Injectable male contraceptive on par with other reversible options

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An injectable male contraceptive combining long-acting testosterone and progestogen achieved near-complete yet reversible suppression of sperm production, according to findings of a prospective phase II study.

“In the past 4 decades, studies have demonstrated that reversible hormonal suppression of spermatogenesis in men can prevent pregnancies in their female partners, although commercial product development has stalled,” wrote Hermann M. Behre, MD, of the Center for Reproductive Medicine and Andrology, Martin Luther University, Germany, and coauthors.

 

In this international multicenter study, 320 healthy men aged 18-45 in stable, monogamous, heterosexual partnerships – without known fertility problems but with no desire for pregnancy in the next 2 years – were given intramuscular injections of 200-mg norethisterone enanthate combined with 1,000-mg testosterone undecanoate every 8 weeks.

The study involved phases. There was an initial suppression phase of treatment of up to 32 weeks, during which couples were told to use alternative nonhormonal contraception. Once two consecutive tests showed sperm concentrations at or below 1 million/mL, the couples began the 56-week efficacy phase where injections continued but couples were advised to not use any other form of contraception. This was followed by a recovery phase initiated when sperm concentrations returned above 1 million/mL.

By 24 weeks after the first injection, 95.9% of those who received at least one injection showed sperm suppression to a concentration of less than or equal to 1 million/mL, according to a paper published online Oct. 27 in the Journal of Clinical Endocrinology & Metabolism.

There were four pregnancies during the efficacy phase of the trial, representing a rate of 1.57 per 100 continuing users, but all occurred before the 16th week of the efficacy phase. Three of these four participants had sperm concentrations at or below 1 million/mL but none was azoospermic around the estimated conception date.

“Effective and safe male contraception continues to be elusive,” said Sarah W. Prager, MD, who was asked to comment on the findings. “This study shows that only 75% of men who are already signing up to participate in a male contraceptive research study would be willing to use the proposed method. Additionally, there seem to still be some significant negative side effects, 61% of which were assessed to be directly related to the male contraceptive study drugs.

“A failure rate of 4% in a study setting is significantly lower than most female contraceptive methods, and many women would potentially not feel comfortable relying on a method with that type of failure rate. Finally, male contraception that is not directly witnessed by a female partner could be suspect, and hard to rely on for any but women in long term, monogamous relationships, according to Dr. Prager, associate professor of obstetrics and gynecology and director of the Ryan Family Planning Program at the University of Washington, Seattle.

“Continuing to seek effective and safe male contraception is a worthy endeavor, but this study tells me that we still have a ways to go before male hormonal contraception can be operationalized,” she said in an interview.

Further findings from the study showed that there were six cases of sperm rebound during the efficacy phase, with sperm concentrations ranging from 2 million to 16.6 million/mL. Overall, the treatment showed a combined failure rate of 7.5%, which included nonsuppression by the end of the suppression phase, sperm rebound during the efficacy phase, or pregnancy during the efficacy phase.

By week 52 of the recovery phase, the cumulative rate of recovery of spermatogenesis to a concentration of at least 15 million/mL was 94.8 per 100 continuing users (J Clin Endocrin Metab. 2016, Oct 27. doi: 10.1210/jc.2016-2141).

However, eight men had not recovered spermatogenesis enough to meet the criteria for return to fertility; five of these showed restored sperm counts by week 74 of the recovery phase, two declined further follow-up, and one did not recover within 4 years of the last injection.

Nearly half of all participants reported acne, and 38.1% reported an increase in libido. There were also 65 reports of emotional disorders, although the authors noted that 62 of these reports all came from the same center in Indonesia. Other adverse events included injection site pain (23.1%), myalgia (16.3%), and gynecomastia (5.6%).

While the potential behavioral effects of the regimen were known, the trial was terminated early. The authors argued that similar effects have been observed both in the intervention and placebo arms of previous trials of this combination, which were designed to look only at suppression of spermatogenesis.

“Contraceptive efficacy studies cannot involve placebo groups for obvious ethical reasons,” they wrote. “Therefore, a definitive answer as to whether the potential risks of this hormonal combination for male contraception outweigh the potential benefits cannot be made based on the present results.”

The study was supported by United Nations Development Programme/United Nations Population Fund/United Nations International Children’s Emergency Fund/ World Health Organization/World Bank Special Programme of Research, Development, and Research Training in Human Reproduction (Human Reproduction Programme, World Health Organization, Geneva, Switzerland), and CONRAD (Eastern Virginia Medical School, Arlington, Va.) using funding from the Bill & Melinda Gates Foundation and U.S. Agency for International Development). No relevant conflicts of interest were declared. Dr. Prager reported having no relevant financial conflicts of interest.

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An injectable male contraceptive combining long-acting testosterone and progestogen achieved near-complete yet reversible suppression of sperm production, according to findings of a prospective phase II study.

“In the past 4 decades, studies have demonstrated that reversible hormonal suppression of spermatogenesis in men can prevent pregnancies in their female partners, although commercial product development has stalled,” wrote Hermann M. Behre, MD, of the Center for Reproductive Medicine and Andrology, Martin Luther University, Germany, and coauthors.

 

In this international multicenter study, 320 healthy men aged 18-45 in stable, monogamous, heterosexual partnerships – without known fertility problems but with no desire for pregnancy in the next 2 years – were given intramuscular injections of 200-mg norethisterone enanthate combined with 1,000-mg testosterone undecanoate every 8 weeks.

The study involved phases. There was an initial suppression phase of treatment of up to 32 weeks, during which couples were told to use alternative nonhormonal contraception. Once two consecutive tests showed sperm concentrations at or below 1 million/mL, the couples began the 56-week efficacy phase where injections continued but couples were advised to not use any other form of contraception. This was followed by a recovery phase initiated when sperm concentrations returned above 1 million/mL.

By 24 weeks after the first injection, 95.9% of those who received at least one injection showed sperm suppression to a concentration of less than or equal to 1 million/mL, according to a paper published online Oct. 27 in the Journal of Clinical Endocrinology & Metabolism.

There were four pregnancies during the efficacy phase of the trial, representing a rate of 1.57 per 100 continuing users, but all occurred before the 16th week of the efficacy phase. Three of these four participants had sperm concentrations at or below 1 million/mL but none was azoospermic around the estimated conception date.

“Effective and safe male contraception continues to be elusive,” said Sarah W. Prager, MD, who was asked to comment on the findings. “This study shows that only 75% of men who are already signing up to participate in a male contraceptive research study would be willing to use the proposed method. Additionally, there seem to still be some significant negative side effects, 61% of which were assessed to be directly related to the male contraceptive study drugs.

“A failure rate of 4% in a study setting is significantly lower than most female contraceptive methods, and many women would potentially not feel comfortable relying on a method with that type of failure rate. Finally, male contraception that is not directly witnessed by a female partner could be suspect, and hard to rely on for any but women in long term, monogamous relationships, according to Dr. Prager, associate professor of obstetrics and gynecology and director of the Ryan Family Planning Program at the University of Washington, Seattle.

“Continuing to seek effective and safe male contraception is a worthy endeavor, but this study tells me that we still have a ways to go before male hormonal contraception can be operationalized,” she said in an interview.

Further findings from the study showed that there were six cases of sperm rebound during the efficacy phase, with sperm concentrations ranging from 2 million to 16.6 million/mL. Overall, the treatment showed a combined failure rate of 7.5%, which included nonsuppression by the end of the suppression phase, sperm rebound during the efficacy phase, or pregnancy during the efficacy phase.

By week 52 of the recovery phase, the cumulative rate of recovery of spermatogenesis to a concentration of at least 15 million/mL was 94.8 per 100 continuing users (J Clin Endocrin Metab. 2016, Oct 27. doi: 10.1210/jc.2016-2141).

However, eight men had not recovered spermatogenesis enough to meet the criteria for return to fertility; five of these showed restored sperm counts by week 74 of the recovery phase, two declined further follow-up, and one did not recover within 4 years of the last injection.

Nearly half of all participants reported acne, and 38.1% reported an increase in libido. There were also 65 reports of emotional disorders, although the authors noted that 62 of these reports all came from the same center in Indonesia. Other adverse events included injection site pain (23.1%), myalgia (16.3%), and gynecomastia (5.6%).

While the potential behavioral effects of the regimen were known, the trial was terminated early. The authors argued that similar effects have been observed both in the intervention and placebo arms of previous trials of this combination, which were designed to look only at suppression of spermatogenesis.

“Contraceptive efficacy studies cannot involve placebo groups for obvious ethical reasons,” they wrote. “Therefore, a definitive answer as to whether the potential risks of this hormonal combination for male contraception outweigh the potential benefits cannot be made based on the present results.”

The study was supported by United Nations Development Programme/United Nations Population Fund/United Nations International Children’s Emergency Fund/ World Health Organization/World Bank Special Programme of Research, Development, and Research Training in Human Reproduction (Human Reproduction Programme, World Health Organization, Geneva, Switzerland), and CONRAD (Eastern Virginia Medical School, Arlington, Va.) using funding from the Bill & Melinda Gates Foundation and U.S. Agency for International Development). No relevant conflicts of interest were declared. Dr. Prager reported having no relevant financial conflicts of interest.

 

An injectable male contraceptive combining long-acting testosterone and progestogen achieved near-complete yet reversible suppression of sperm production, according to findings of a prospective phase II study.

“In the past 4 decades, studies have demonstrated that reversible hormonal suppression of spermatogenesis in men can prevent pregnancies in their female partners, although commercial product development has stalled,” wrote Hermann M. Behre, MD, of the Center for Reproductive Medicine and Andrology, Martin Luther University, Germany, and coauthors.

 

In this international multicenter study, 320 healthy men aged 18-45 in stable, monogamous, heterosexual partnerships – without known fertility problems but with no desire for pregnancy in the next 2 years – were given intramuscular injections of 200-mg norethisterone enanthate combined with 1,000-mg testosterone undecanoate every 8 weeks.

The study involved phases. There was an initial suppression phase of treatment of up to 32 weeks, during which couples were told to use alternative nonhormonal contraception. Once two consecutive tests showed sperm concentrations at or below 1 million/mL, the couples began the 56-week efficacy phase where injections continued but couples were advised to not use any other form of contraception. This was followed by a recovery phase initiated when sperm concentrations returned above 1 million/mL.

By 24 weeks after the first injection, 95.9% of those who received at least one injection showed sperm suppression to a concentration of less than or equal to 1 million/mL, according to a paper published online Oct. 27 in the Journal of Clinical Endocrinology & Metabolism.

There were four pregnancies during the efficacy phase of the trial, representing a rate of 1.57 per 100 continuing users, but all occurred before the 16th week of the efficacy phase. Three of these four participants had sperm concentrations at or below 1 million/mL but none was azoospermic around the estimated conception date.

“Effective and safe male contraception continues to be elusive,” said Sarah W. Prager, MD, who was asked to comment on the findings. “This study shows that only 75% of men who are already signing up to participate in a male contraceptive research study would be willing to use the proposed method. Additionally, there seem to still be some significant negative side effects, 61% of which were assessed to be directly related to the male contraceptive study drugs.

“A failure rate of 4% in a study setting is significantly lower than most female contraceptive methods, and many women would potentially not feel comfortable relying on a method with that type of failure rate. Finally, male contraception that is not directly witnessed by a female partner could be suspect, and hard to rely on for any but women in long term, monogamous relationships, according to Dr. Prager, associate professor of obstetrics and gynecology and director of the Ryan Family Planning Program at the University of Washington, Seattle.

“Continuing to seek effective and safe male contraception is a worthy endeavor, but this study tells me that we still have a ways to go before male hormonal contraception can be operationalized,” she said in an interview.

Further findings from the study showed that there were six cases of sperm rebound during the efficacy phase, with sperm concentrations ranging from 2 million to 16.6 million/mL. Overall, the treatment showed a combined failure rate of 7.5%, which included nonsuppression by the end of the suppression phase, sperm rebound during the efficacy phase, or pregnancy during the efficacy phase.

By week 52 of the recovery phase, the cumulative rate of recovery of spermatogenesis to a concentration of at least 15 million/mL was 94.8 per 100 continuing users (J Clin Endocrin Metab. 2016, Oct 27. doi: 10.1210/jc.2016-2141).

However, eight men had not recovered spermatogenesis enough to meet the criteria for return to fertility; five of these showed restored sperm counts by week 74 of the recovery phase, two declined further follow-up, and one did not recover within 4 years of the last injection.

Nearly half of all participants reported acne, and 38.1% reported an increase in libido. There were also 65 reports of emotional disorders, although the authors noted that 62 of these reports all came from the same center in Indonesia. Other adverse events included injection site pain (23.1%), myalgia (16.3%), and gynecomastia (5.6%).

While the potential behavioral effects of the regimen were known, the trial was terminated early. The authors argued that similar effects have been observed both in the intervention and placebo arms of previous trials of this combination, which were designed to look only at suppression of spermatogenesis.

“Contraceptive efficacy studies cannot involve placebo groups for obvious ethical reasons,” they wrote. “Therefore, a definitive answer as to whether the potential risks of this hormonal combination for male contraception outweigh the potential benefits cannot be made based on the present results.”

The study was supported by United Nations Development Programme/United Nations Population Fund/United Nations International Children’s Emergency Fund/ World Health Organization/World Bank Special Programme of Research, Development, and Research Training in Human Reproduction (Human Reproduction Programme, World Health Organization, Geneva, Switzerland), and CONRAD (Eastern Virginia Medical School, Arlington, Va.) using funding from the Bill & Melinda Gates Foundation and U.S. Agency for International Development). No relevant conflicts of interest were declared. Dr. Prager reported having no relevant financial conflicts of interest.

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FROM JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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Key clinical point: An injectable male contraceptive combining long-acting testosterone and progestogen achieves near-complete yet reversible suppression of sperm production.

Major finding: An injectable male contraceptive showed an overall failure rate of 7.5% but achieved sperm suppression to a concentration at or below 1 million/mL in 95.9% of those who received at least one injection.

Data source: Prospective, multicenter phase II trial of 320 healthy couples.

Disclosures: The study was supported by United Nations Development Programme/United Nations Population Fund/United Nations International Children’s Emergency Fund/World Health Organization/World Bank Special Programme of Research, Development, and Research Training in Human Reproduction (Human Reproduction Progamme, World Health Organization, Geneva, Switzerland), and CONRAD (Eastern Virginia Medical School, Arlington, Va.) using funding from the Bill & Melinda Gates Foundation and U.S. Agency for International Development). No relevant conflicts of interest were declared.

Lower mortality with left-sided colon tumors

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Left-sided primary colon tumors are associated with significantly lower mortality than right-sided tumors, according to a systematic review and meta-analysis published online Oct. 27 in JAMA Oncology.

Previous research has suggested that left- and right-sided colon cancer have different biological, molecular, and clinical features, wrote Fausto Petrelli, MD, from the oncology department at ASST Bergamo Ovest (Italy) and his coauthors.

Kuo Chun Hung/Thinkstock
Right-sided colon cancers have a higher prevalence of iron-deficiency anemia because of occult blood loss and are associated with defective mismatch repair genes and KRAS and BRAF mutations. Left-sided colon cancer is associated with a greater incidence of hematochezia and altered bowel habits, and is linked more commonly to the chromosomal instability pathway, p53, NRAS, microRNA-146a, microRNA-147b, and microRNA-1288 (JAMA Oncology. 2016 Oct 27. doi: 10.1001/jamaoncol.2016.4227).

A meta-analysis of 66 studies involving 1,437,846 patients, in which the cancer side was reported and survival data was available, showed patients with a left-sided primary tumor had a significant 18% lower risk of death (P less than .001), compared with those with right-side tumors. This relationship was independent of other factors including stage, race, adjuvant chemotherapy, and the quality of the study, although studies that only included patients with stage IV disease showed an even greater 27% reduction in death in those with left-side tumors.

“An increasingly large amount of evidence is accumulating showing that colon tumors proximal and distal to the splenic flexure are distinct clinical and biological entities,” the authors wrote. “Apart from having a different embryological origin – proximal colon from midgut and distal colon and rectum from hindgut – the right colon displays peculiar differences in mucosal immunology, probably owing to differences in gut microbiota.”

For example, the proximal colon has been found to have a higher concentration of eosinophils and intraepithelial T cells, which may be due to the fact that immune cells in the distal colorectum have to walk an even finer line between immunogenicity against pathogens and tolerance for normal gut microbiota.

“This observation could also explain the differences in immunological response to tumors developing in the proximal colon characterized by an increased immune activity and, in turn, reflect the specific differences in pathogenesis and outcome.”

Given their findings, the authors argued that side of origin should be included as a prognostic factor for both early and advanced disease, and should also be considered in treatment decision making and in future clinical trials.

No conflicts of interest were declared.
 

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Left-sided primary colon tumors are associated with significantly lower mortality than right-sided tumors, according to a systematic review and meta-analysis published online Oct. 27 in JAMA Oncology.

Previous research has suggested that left- and right-sided colon cancer have different biological, molecular, and clinical features, wrote Fausto Petrelli, MD, from the oncology department at ASST Bergamo Ovest (Italy) and his coauthors.

Kuo Chun Hung/Thinkstock
Right-sided colon cancers have a higher prevalence of iron-deficiency anemia because of occult blood loss and are associated with defective mismatch repair genes and KRAS and BRAF mutations. Left-sided colon cancer is associated with a greater incidence of hematochezia and altered bowel habits, and is linked more commonly to the chromosomal instability pathway, p53, NRAS, microRNA-146a, microRNA-147b, and microRNA-1288 (JAMA Oncology. 2016 Oct 27. doi: 10.1001/jamaoncol.2016.4227).

A meta-analysis of 66 studies involving 1,437,846 patients, in which the cancer side was reported and survival data was available, showed patients with a left-sided primary tumor had a significant 18% lower risk of death (P less than .001), compared with those with right-side tumors. This relationship was independent of other factors including stage, race, adjuvant chemotherapy, and the quality of the study, although studies that only included patients with stage IV disease showed an even greater 27% reduction in death in those with left-side tumors.

“An increasingly large amount of evidence is accumulating showing that colon tumors proximal and distal to the splenic flexure are distinct clinical and biological entities,” the authors wrote. “Apart from having a different embryological origin – proximal colon from midgut and distal colon and rectum from hindgut – the right colon displays peculiar differences in mucosal immunology, probably owing to differences in gut microbiota.”

For example, the proximal colon has been found to have a higher concentration of eosinophils and intraepithelial T cells, which may be due to the fact that immune cells in the distal colorectum have to walk an even finer line between immunogenicity against pathogens and tolerance for normal gut microbiota.

“This observation could also explain the differences in immunological response to tumors developing in the proximal colon characterized by an increased immune activity and, in turn, reflect the specific differences in pathogenesis and outcome.”

Given their findings, the authors argued that side of origin should be included as a prognostic factor for both early and advanced disease, and should also be considered in treatment decision making and in future clinical trials.

No conflicts of interest were declared.
 

Left-sided primary colon tumors are associated with significantly lower mortality than right-sided tumors, according to a systematic review and meta-analysis published online Oct. 27 in JAMA Oncology.

Previous research has suggested that left- and right-sided colon cancer have different biological, molecular, and clinical features, wrote Fausto Petrelli, MD, from the oncology department at ASST Bergamo Ovest (Italy) and his coauthors.

Kuo Chun Hung/Thinkstock
Right-sided colon cancers have a higher prevalence of iron-deficiency anemia because of occult blood loss and are associated with defective mismatch repair genes and KRAS and BRAF mutations. Left-sided colon cancer is associated with a greater incidence of hematochezia and altered bowel habits, and is linked more commonly to the chromosomal instability pathway, p53, NRAS, microRNA-146a, microRNA-147b, and microRNA-1288 (JAMA Oncology. 2016 Oct 27. doi: 10.1001/jamaoncol.2016.4227).

A meta-analysis of 66 studies involving 1,437,846 patients, in which the cancer side was reported and survival data was available, showed patients with a left-sided primary tumor had a significant 18% lower risk of death (P less than .001), compared with those with right-side tumors. This relationship was independent of other factors including stage, race, adjuvant chemotherapy, and the quality of the study, although studies that only included patients with stage IV disease showed an even greater 27% reduction in death in those with left-side tumors.

“An increasingly large amount of evidence is accumulating showing that colon tumors proximal and distal to the splenic flexure are distinct clinical and biological entities,” the authors wrote. “Apart from having a different embryological origin – proximal colon from midgut and distal colon and rectum from hindgut – the right colon displays peculiar differences in mucosal immunology, probably owing to differences in gut microbiota.”

For example, the proximal colon has been found to have a higher concentration of eosinophils and intraepithelial T cells, which may be due to the fact that immune cells in the distal colorectum have to walk an even finer line between immunogenicity against pathogens and tolerance for normal gut microbiota.

“This observation could also explain the differences in immunological response to tumors developing in the proximal colon characterized by an increased immune activity and, in turn, reflect the specific differences in pathogenesis and outcome.”

Given their findings, the authors argued that side of origin should be included as a prognostic factor for both early and advanced disease, and should also be considered in treatment decision making and in future clinical trials.

No conflicts of interest were declared.
 

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FROM JAMA ONCOLOGY 

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Key clinical point: Left-sided colon tumors are associated with significantly lower mortality than right-sided tumors.

Major finding: Patients with a left-sided primary tumor had a significant 18% lower risk of death, compared with those with a right-side tumor.

Data source: Systematic review and meta-analysis of 66 studies involving 1,437,846 patients.

Disclosures: No relevant conflicts of interest were declared.

Higher-volume facilities show better myeloma outcomes

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Patients with multiple myeloma who received treatment from facilities that see a greater number of multiple myeloma patients have significantly lower overall mortality, compared with those who attend lower-volume facilities, new research suggests.

There is a strong body of evidence showing higher-volume surgical oncology is associated with better clinical outcomes, but there is a lack of similar studies for medical oncology, wrote Dr. Ronald S. Go and his colleagues at the Mayo Clinic in Rochester, Minn.

To investigate, researchers analyzed National Cancer Database data from 94,722 patients with multiple myeloma who were treated at 1,333 facilities. The median number of new multiple myeloma patients seen across all facilities each year was 6.1 patients, with a quartile range of 3.6 patients per year to 10.3.

Patients treated at facilities in the lowest quartile of patient volume had a 22% higher risk of death, compared with patients treated in the highest-volume–quartile facilities, Dr. Go and his colleagues reported (J Clin Oncol. 2016 Oct 26. doi: 10.1200/JCO.2016.68.3805).

Those in the third-lowest volume quartile had a 17% increased risk of death and those in the second-lowest volume quartile had a 12% increased risk, compared with the highest-volume quartile.

Overall, median survival times were 26.9 months for the lowest-volume quartile, then 29.1 months, 31.9 months, and 49.1 months for the second-lowest, second-highest, and highest-volume quartiles, respectively.

“Compared with facilities treating 10 patients per year, facilities treating 20, 30, and 40 patients per year had approximately 10%, 15%, and 20% lower overall mortality rates,” the authors wrote.

They noted that the relationship between patient volume and mortality was almost linear, with no obvious sign of a plateau. The magnitude of difference in mortality between the high- and low-volume institutions was also similar to that seen in studies of lung and rectal cancer surgery.

This relationship between patient volume and outcomes was independent of potential confounders, such as sociodemographic and geographic factors, comorbidities, and clustering of outcome within hospitals.

More than 60% of patients were treated in facilities within the top-quartile facilities with an annual patient volume of greater than 10.3 new patients a year, but only 18 of the 1,333 facilities treated more than 50 new patients with multiple myeloma each year, the investigators said.

Facilities in the top two quartiles were more likely to be academic, and their patients were more likely to be younger, black, and privately insured and to reside in metropolitan areas.

Commenting on their findings, the authors suggested that it should come as no surprise to see such a link between patient volume and outcomes, especially given the unprecedented rate of new drugs becoming available for the treatment of multiple myeloma and of new information being published about the disease.

“Keeping up with pertinent new knowledge in [multiple myeloma], which comprises only 2% of all cancers, and at the same time maintaining proficiency in its management, is becoming more difficult, especially if one also has to stay current in all the other cancers,” Dr. Go and his associates wrote.

They suggested an approach similar to that taken for oncologic surgery, with patients being referred to centers of excellence, although they noted that this approach should move beyond NCI-designated cancer centers alone.

Given the challenges inherent in setting up such a system to deal with rare chronic cancers, they also suggested an interim option of comanagement with a high-volume facility. “This model of care can be further enhanced by preferentially funneling patients with hematologic cancer to a limited number of hematologist-oncologists per practice to accelerate accumulation of clinical experience and development of treatment proficiency.”

The study was supported by the Eagles Cancer Research Fund Pilot Grant, Mayo Clinic division of hematology, and the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. One author declared research funding from Genentech, but no other conflicts were declared.

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Patients with multiple myeloma who received treatment from facilities that see a greater number of multiple myeloma patients have significantly lower overall mortality, compared with those who attend lower-volume facilities, new research suggests.

There is a strong body of evidence showing higher-volume surgical oncology is associated with better clinical outcomes, but there is a lack of similar studies for medical oncology, wrote Dr. Ronald S. Go and his colleagues at the Mayo Clinic in Rochester, Minn.

To investigate, researchers analyzed National Cancer Database data from 94,722 patients with multiple myeloma who were treated at 1,333 facilities. The median number of new multiple myeloma patients seen across all facilities each year was 6.1 patients, with a quartile range of 3.6 patients per year to 10.3.

Patients treated at facilities in the lowest quartile of patient volume had a 22% higher risk of death, compared with patients treated in the highest-volume–quartile facilities, Dr. Go and his colleagues reported (J Clin Oncol. 2016 Oct 26. doi: 10.1200/JCO.2016.68.3805).

Those in the third-lowest volume quartile had a 17% increased risk of death and those in the second-lowest volume quartile had a 12% increased risk, compared with the highest-volume quartile.

Overall, median survival times were 26.9 months for the lowest-volume quartile, then 29.1 months, 31.9 months, and 49.1 months for the second-lowest, second-highest, and highest-volume quartiles, respectively.

“Compared with facilities treating 10 patients per year, facilities treating 20, 30, and 40 patients per year had approximately 10%, 15%, and 20% lower overall mortality rates,” the authors wrote.

They noted that the relationship between patient volume and mortality was almost linear, with no obvious sign of a plateau. The magnitude of difference in mortality between the high- and low-volume institutions was also similar to that seen in studies of lung and rectal cancer surgery.

This relationship between patient volume and outcomes was independent of potential confounders, such as sociodemographic and geographic factors, comorbidities, and clustering of outcome within hospitals.

More than 60% of patients were treated in facilities within the top-quartile facilities with an annual patient volume of greater than 10.3 new patients a year, but only 18 of the 1,333 facilities treated more than 50 new patients with multiple myeloma each year, the investigators said.

Facilities in the top two quartiles were more likely to be academic, and their patients were more likely to be younger, black, and privately insured and to reside in metropolitan areas.

Commenting on their findings, the authors suggested that it should come as no surprise to see such a link between patient volume and outcomes, especially given the unprecedented rate of new drugs becoming available for the treatment of multiple myeloma and of new information being published about the disease.

“Keeping up with pertinent new knowledge in [multiple myeloma], which comprises only 2% of all cancers, and at the same time maintaining proficiency in its management, is becoming more difficult, especially if one also has to stay current in all the other cancers,” Dr. Go and his associates wrote.

They suggested an approach similar to that taken for oncologic surgery, with patients being referred to centers of excellence, although they noted that this approach should move beyond NCI-designated cancer centers alone.

Given the challenges inherent in setting up such a system to deal with rare chronic cancers, they also suggested an interim option of comanagement with a high-volume facility. “This model of care can be further enhanced by preferentially funneling patients with hematologic cancer to a limited number of hematologist-oncologists per practice to accelerate accumulation of clinical experience and development of treatment proficiency.”

The study was supported by the Eagles Cancer Research Fund Pilot Grant, Mayo Clinic division of hematology, and the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. One author declared research funding from Genentech, but no other conflicts were declared.

 

Patients with multiple myeloma who received treatment from facilities that see a greater number of multiple myeloma patients have significantly lower overall mortality, compared with those who attend lower-volume facilities, new research suggests.

There is a strong body of evidence showing higher-volume surgical oncology is associated with better clinical outcomes, but there is a lack of similar studies for medical oncology, wrote Dr. Ronald S. Go and his colleagues at the Mayo Clinic in Rochester, Minn.

To investigate, researchers analyzed National Cancer Database data from 94,722 patients with multiple myeloma who were treated at 1,333 facilities. The median number of new multiple myeloma patients seen across all facilities each year was 6.1 patients, with a quartile range of 3.6 patients per year to 10.3.

Patients treated at facilities in the lowest quartile of patient volume had a 22% higher risk of death, compared with patients treated in the highest-volume–quartile facilities, Dr. Go and his colleagues reported (J Clin Oncol. 2016 Oct 26. doi: 10.1200/JCO.2016.68.3805).

Those in the third-lowest volume quartile had a 17% increased risk of death and those in the second-lowest volume quartile had a 12% increased risk, compared with the highest-volume quartile.

Overall, median survival times were 26.9 months for the lowest-volume quartile, then 29.1 months, 31.9 months, and 49.1 months for the second-lowest, second-highest, and highest-volume quartiles, respectively.

“Compared with facilities treating 10 patients per year, facilities treating 20, 30, and 40 patients per year had approximately 10%, 15%, and 20% lower overall mortality rates,” the authors wrote.

They noted that the relationship between patient volume and mortality was almost linear, with no obvious sign of a plateau. The magnitude of difference in mortality between the high- and low-volume institutions was also similar to that seen in studies of lung and rectal cancer surgery.

This relationship between patient volume and outcomes was independent of potential confounders, such as sociodemographic and geographic factors, comorbidities, and clustering of outcome within hospitals.

More than 60% of patients were treated in facilities within the top-quartile facilities with an annual patient volume of greater than 10.3 new patients a year, but only 18 of the 1,333 facilities treated more than 50 new patients with multiple myeloma each year, the investigators said.

Facilities in the top two quartiles were more likely to be academic, and their patients were more likely to be younger, black, and privately insured and to reside in metropolitan areas.

Commenting on their findings, the authors suggested that it should come as no surprise to see such a link between patient volume and outcomes, especially given the unprecedented rate of new drugs becoming available for the treatment of multiple myeloma and of new information being published about the disease.

“Keeping up with pertinent new knowledge in [multiple myeloma], which comprises only 2% of all cancers, and at the same time maintaining proficiency in its management, is becoming more difficult, especially if one also has to stay current in all the other cancers,” Dr. Go and his associates wrote.

They suggested an approach similar to that taken for oncologic surgery, with patients being referred to centers of excellence, although they noted that this approach should move beyond NCI-designated cancer centers alone.

Given the challenges inherent in setting up such a system to deal with rare chronic cancers, they also suggested an interim option of comanagement with a high-volume facility. “This model of care can be further enhanced by preferentially funneling patients with hematologic cancer to a limited number of hematologist-oncologists per practice to accelerate accumulation of clinical experience and development of treatment proficiency.”

The study was supported by the Eagles Cancer Research Fund Pilot Grant, Mayo Clinic division of hematology, and the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. One author declared research funding from Genentech, but no other conflicts were declared.

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FROM THE JOURNAL OF CLINICAL ONCOLOGY

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Key clinical point: Patients with multiple myeloma treated at high-volume facilities have a lower mortality than those treated at lower-volume institutions.

Major finding: Individuals with multiple myeloma treated at facilities in the lowest quartile of patient volume had a 22% higher risk of death, compared with patients treated in the highest-volume–quartile facilities.

Data source: Analysis of National Cancer Database data from 94,722 patients with multiple myeloma treated at 1,333 facilities.

Disclosures: The study was supported by the Eagles Cancer Research Fund Pilot Grant, Mayo Clinic division of hematology, and the Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. One author declared research funding from Genentech, but no other conflicts were declared.

Resveratrol may reduce androgen levels in PCOS

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The naturally occurring polyphenol resveratrol may have beneficial hormonal effects in women with polycystic ovary syndrome (PCOS), according to the results of a new study.

Previous in vitro research by the lead author, Beata Banaszewska, MD, from the division of infertility and reproductive endocrinology, in the department of gynecology, obstetrics, and gynecological oncology, Poznan University of Medical Sciences, Poznan, Poland, and her colleagues, suggested that resveratrol may inhibit cell growth and reduce androgen production in rat theca-interstitial cells, which are implicated in excessive androgen production in PCOS in humans.

Fuse/Thinkstock.com
Red wine pouring into wine glass
“Importantly, it seems that resveratrol actions on ovarian steroidogenesis are selective, given that it has no effect on progesterone production by theca cells,” the authors wrote in the October 18 online edition of the Journal of Clinical Endocrinology & Metabolism.

They conducted a placebo-controlled trial, randomizing 34 women with PCOS to 1,500 mg oral resveratrol or placebo daily, with clinical, endocrine and metabolic assessments performed at baseline and three months after initiating treatment. The mean age of the women was 27 years; their mean BMI was 27.1 to 27.6 kg.m2.
 

At three months, serum total testosterone, the primary outcome, had declined significantly by 23.1% in the resveratrol group (P = .01), but increased by a non-significant 2.9% in the placebo group. The reduction in serum testosterone was even greater among individuals with a lower body mass index (J Clin Endocrinol Metab. 101: 3575–81, 2016. October 18. doi: 10.1210/jc.2016-1858).

Similarly, levels of dehydroepiandrosterone sulfate declined by a significant 22.2% in the resveratrol group (P = .01), but increased by a non-significant 10.5% in the placebo group, suggesting an effect on ovarian as well as adrenal androgen production.

“The magnitude of improvement of hyperandrogenemia observed in response to resveratrol is comparable to or greater than that found in response to OC [oral contraceptive] pills or metformin, with the exception of preparations containing cypretorone acetate, which are not available in the United States,” the authors wrote. They cited another study showing a 19% reduction in testosterone either with 12 months of treatment with the oral contraceptive pill or with metformin.

They also noted that while reductions in testosterone with metformin occur gradually over 3 to 6 months, their study showed a marked reduction in just three months.

Researchers also saw a significant 31.8% decline in fasting insulin (P = .007) and a 66.3% increase (P =.04) in the Insulin Sensitivity Index among patients treated with resveratrol.

Resveratrol was not associated with significant effects on BMI, ovarian volume, gonadotropins, lipid profile, or markers of inflammation and endothelial function. The women on placebo did show a significant reduction in ovarian volume, and increases in total and high-density lipoprotein cholesterol levels, prompting the authors to suggest that resveratrol may have prevented an increase in cholesterol that would otherwise have occurred.

Other than two patients on resveratrol reporting transient numbness, no other adverse events were noted.

While resveratrol, which is found in grapes, nuts and berries, is known to have anti-inflammatory, antioxidant, and cardioprotective properties, the authors said this was the first clinical study examining its effects in PCOS.

“Although identification of the mechanisms of action of resveratrol is not possible in this clinical trial, several possible mechanisms may be considered,” including a reduction of growth of theca cells, “and the improvement of insulin sensitivity with consequent reduction of insulin levels,” they wrote.

“Furthermore, given that insulin is known to stimulate androgen production in both ovarian and adrenal tissues, it is likely that the resveratrol-induced reduction of insulin observed in the present study may have contributed to a decrease of androgen levels,” they added.

RevGenetics provided the resveratrol for the study. The study was supported by the authors’ own institutions, and no conflicts of interest were declared.

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The naturally occurring polyphenol resveratrol may have beneficial hormonal effects in women with polycystic ovary syndrome (PCOS), according to the results of a new study.

Previous in vitro research by the lead author, Beata Banaszewska, MD, from the division of infertility and reproductive endocrinology, in the department of gynecology, obstetrics, and gynecological oncology, Poznan University of Medical Sciences, Poznan, Poland, and her colleagues, suggested that resveratrol may inhibit cell growth and reduce androgen production in rat theca-interstitial cells, which are implicated in excessive androgen production in PCOS in humans.

Fuse/Thinkstock.com
Red wine pouring into wine glass
“Importantly, it seems that resveratrol actions on ovarian steroidogenesis are selective, given that it has no effect on progesterone production by theca cells,” the authors wrote in the October 18 online edition of the Journal of Clinical Endocrinology & Metabolism.

They conducted a placebo-controlled trial, randomizing 34 women with PCOS to 1,500 mg oral resveratrol or placebo daily, with clinical, endocrine and metabolic assessments performed at baseline and three months after initiating treatment. The mean age of the women was 27 years; their mean BMI was 27.1 to 27.6 kg.m2.
 

At three months, serum total testosterone, the primary outcome, had declined significantly by 23.1% in the resveratrol group (P = .01), but increased by a non-significant 2.9% in the placebo group. The reduction in serum testosterone was even greater among individuals with a lower body mass index (J Clin Endocrinol Metab. 101: 3575–81, 2016. October 18. doi: 10.1210/jc.2016-1858).

Similarly, levels of dehydroepiandrosterone sulfate declined by a significant 22.2% in the resveratrol group (P = .01), but increased by a non-significant 10.5% in the placebo group, suggesting an effect on ovarian as well as adrenal androgen production.

“The magnitude of improvement of hyperandrogenemia observed in response to resveratrol is comparable to or greater than that found in response to OC [oral contraceptive] pills or metformin, with the exception of preparations containing cypretorone acetate, which are not available in the United States,” the authors wrote. They cited another study showing a 19% reduction in testosterone either with 12 months of treatment with the oral contraceptive pill or with metformin.

They also noted that while reductions in testosterone with metformin occur gradually over 3 to 6 months, their study showed a marked reduction in just three months.

Researchers also saw a significant 31.8% decline in fasting insulin (P = .007) and a 66.3% increase (P =.04) in the Insulin Sensitivity Index among patients treated with resveratrol.

Resveratrol was not associated with significant effects on BMI, ovarian volume, gonadotropins, lipid profile, or markers of inflammation and endothelial function. The women on placebo did show a significant reduction in ovarian volume, and increases in total and high-density lipoprotein cholesterol levels, prompting the authors to suggest that resveratrol may have prevented an increase in cholesterol that would otherwise have occurred.

Other than two patients on resveratrol reporting transient numbness, no other adverse events were noted.

While resveratrol, which is found in grapes, nuts and berries, is known to have anti-inflammatory, antioxidant, and cardioprotective properties, the authors said this was the first clinical study examining its effects in PCOS.

“Although identification of the mechanisms of action of resveratrol is not possible in this clinical trial, several possible mechanisms may be considered,” including a reduction of growth of theca cells, “and the improvement of insulin sensitivity with consequent reduction of insulin levels,” they wrote.

“Furthermore, given that insulin is known to stimulate androgen production in both ovarian and adrenal tissues, it is likely that the resveratrol-induced reduction of insulin observed in the present study may have contributed to a decrease of androgen levels,” they added.

RevGenetics provided the resveratrol for the study. The study was supported by the authors’ own institutions, and no conflicts of interest were declared.

 

The naturally occurring polyphenol resveratrol may have beneficial hormonal effects in women with polycystic ovary syndrome (PCOS), according to the results of a new study.

Previous in vitro research by the lead author, Beata Banaszewska, MD, from the division of infertility and reproductive endocrinology, in the department of gynecology, obstetrics, and gynecological oncology, Poznan University of Medical Sciences, Poznan, Poland, and her colleagues, suggested that resveratrol may inhibit cell growth and reduce androgen production in rat theca-interstitial cells, which are implicated in excessive androgen production in PCOS in humans.

Fuse/Thinkstock.com
Red wine pouring into wine glass
“Importantly, it seems that resveratrol actions on ovarian steroidogenesis are selective, given that it has no effect on progesterone production by theca cells,” the authors wrote in the October 18 online edition of the Journal of Clinical Endocrinology & Metabolism.

They conducted a placebo-controlled trial, randomizing 34 women with PCOS to 1,500 mg oral resveratrol or placebo daily, with clinical, endocrine and metabolic assessments performed at baseline and three months after initiating treatment. The mean age of the women was 27 years; their mean BMI was 27.1 to 27.6 kg.m2.
 

At three months, serum total testosterone, the primary outcome, had declined significantly by 23.1% in the resveratrol group (P = .01), but increased by a non-significant 2.9% in the placebo group. The reduction in serum testosterone was even greater among individuals with a lower body mass index (J Clin Endocrinol Metab. 101: 3575–81, 2016. October 18. doi: 10.1210/jc.2016-1858).

Similarly, levels of dehydroepiandrosterone sulfate declined by a significant 22.2% in the resveratrol group (P = .01), but increased by a non-significant 10.5% in the placebo group, suggesting an effect on ovarian as well as adrenal androgen production.

“The magnitude of improvement of hyperandrogenemia observed in response to resveratrol is comparable to or greater than that found in response to OC [oral contraceptive] pills or metformin, with the exception of preparations containing cypretorone acetate, which are not available in the United States,” the authors wrote. They cited another study showing a 19% reduction in testosterone either with 12 months of treatment with the oral contraceptive pill or with metformin.

They also noted that while reductions in testosterone with metformin occur gradually over 3 to 6 months, their study showed a marked reduction in just three months.

Researchers also saw a significant 31.8% decline in fasting insulin (P = .007) and a 66.3% increase (P =.04) in the Insulin Sensitivity Index among patients treated with resveratrol.

Resveratrol was not associated with significant effects on BMI, ovarian volume, gonadotropins, lipid profile, or markers of inflammation and endothelial function. The women on placebo did show a significant reduction in ovarian volume, and increases in total and high-density lipoprotein cholesterol levels, prompting the authors to suggest that resveratrol may have prevented an increase in cholesterol that would otherwise have occurred.

Other than two patients on resveratrol reporting transient numbness, no other adverse events were noted.

While resveratrol, which is found in grapes, nuts and berries, is known to have anti-inflammatory, antioxidant, and cardioprotective properties, the authors said this was the first clinical study examining its effects in PCOS.

“Although identification of the mechanisms of action of resveratrol is not possible in this clinical trial, several possible mechanisms may be considered,” including a reduction of growth of theca cells, “and the improvement of insulin sensitivity with consequent reduction of insulin levels,” they wrote.

“Furthermore, given that insulin is known to stimulate androgen production in both ovarian and adrenal tissues, it is likely that the resveratrol-induced reduction of insulin observed in the present study may have contributed to a decrease of androgen levels,” they added.

RevGenetics provided the resveratrol for the study. The study was supported by the authors’ own institutions, and no conflicts of interest were declared.

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FROM THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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Key clinical point: The naturally occurring polyphenol resveratrol may reduce androgen and DHEAS levels in women with polycystic ovary syndrome.

Major finding: Treatment with resveratrol reduced total testosterone by 23.1% and dehydroepiandrosterone sulfate by 22.2%, while these levels increased in the placebo group.

Data source: A randomized placebo controlled trial in 34 women with polycystic ovary syndrome, randomizing women to 1,500 mg of oral resveratrol daily, or placebo.

Disclosures: The study was supported by the authors’ own institutions, and no conflicts of interest were declared. RevGenetics provided the resveratrol for the study.

Molecular subtypes of Crohn’s may shape treatment approach

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Researchers have identified two distinct molecular subclasses of Crohn’s disease, based on gene expression and phenotype, which could help with better tailoring of treatment.

Crohn’s disease is a chronic inflammatory disorder with a diverse clinical presentation and pattern of progression, yet the molecular and genetic factors underlying the disease are not well understood.

This complicates treatment – which currently relies on doctors’ subjective clinical classification – and makes it difficult to develop an evidence-based personalized approach.

Writing in the Oct. 14 online edition of Gut, Matthew Weiser, a graduate student in the genetics department at the University of North Carolina at Chapel Hill and his coauthors report the results of a genetic and molecular analysis of noninflamed colon tissue from a cohort of 21 adult patients with Crohn’s disease and from healthy controls.

This analysis revealed two distinct molecular phenotypes in colon tissue, which they labeled as “colon-like” and “ileum-like.” They found significant differences in cellular metabolism and immune pathways (Gut. 2016 Oct 14. doi: 10.1136/gutjnl-2016-312518).

In the colon-like subtype, the tissue samples – which were all taken from the colon – showed gene expression patterns that were typical of cells from the colon. However, in the ileum-like subtype, the gene expression patterns in these colon cells more closely resembled the gene expression of ileum cells.

They also saw significant differences in other molecular traits, such as chromatin accessibility, and pathways involved in lipid and xenobiotic metabolism.

“Furthermore, chromatin accessibility data suggest these subclasses exist due to stable molecular transformations of the genomic architecture in colon tissue cells, and not transient differences due to external cellular signaling,” researchers reported.

To rule out the possibility that these differences might be from treatment history, researchers conducted a similar analysis using samples from 201 treatment-naive pediatric patients with Crohn’s disease and found the same molecular and genetic patterns.

“Together, these data strongly suggest that the colon-like and ileum-like molecular signatures define two forms of [Crohn’s disease] present, regardless of tissue sampling location, patient age, or treatment status.”

The researchers also examined the impact the two subtypes might have on the clinical disease and therefore the therapeutic approach taken. In the cohort of treatment-naive pediatric patients, they found that patients with the more colon-like Crohn’s disease were more likely to have both colon and ileum involvement, have deep ulcers, and show more macroscopic inflammation than those with more ileum-like Crohn’s disease.

They also found that adults in the colon-like disease subclass were the only ones who were likely to have rectal disease or require a colectomy, although they noted that the sample size was small.

More patients with the ileum-like disease showed no inflammation and were also more likely to have involvement of the colon only.

“Although our sample size is small, these data suggest that molecular subtypes of [Crohn’s disease] can stratify patients into clinically distinct and relevant subgroups and may prospectively identify those more likely to require intensive medical therapy,” the authors wrote.

“As a first step, molecular stratifications of archived patient tissue and serum from major clinical trials could be performed in the context of response to biological and microbial therapies for [Crohn’s disease].”

The authors pointed out that they did not study samples from both intestinal regions in each patient but suggested that their findings should motivate future studies in larger cohorts using matched tissue samples from both the colon and ileum.

“These data emphasize the need to continue and expand these studies over time to incorporate the evolving clinical phenotype in both adult and pediatric patients, and the need to study both tissues in the same patient.”

The study was supported by the National Institute of Environmental Health Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, American Gastroenterological Association, Broad Medical Research Program, Crohn’s and Colitis Foundation of America, International Human Microbiome Consortium, UNC Team Translational Science Award, and Helmsley Charitable Trust SHARE 2, Project 3. No conflicts of interest were declared.

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Researchers have identified two distinct molecular subclasses of Crohn’s disease, based on gene expression and phenotype, which could help with better tailoring of treatment.

Crohn’s disease is a chronic inflammatory disorder with a diverse clinical presentation and pattern of progression, yet the molecular and genetic factors underlying the disease are not well understood.

This complicates treatment – which currently relies on doctors’ subjective clinical classification – and makes it difficult to develop an evidence-based personalized approach.

Writing in the Oct. 14 online edition of Gut, Matthew Weiser, a graduate student in the genetics department at the University of North Carolina at Chapel Hill and his coauthors report the results of a genetic and molecular analysis of noninflamed colon tissue from a cohort of 21 adult patients with Crohn’s disease and from healthy controls.

This analysis revealed two distinct molecular phenotypes in colon tissue, which they labeled as “colon-like” and “ileum-like.” They found significant differences in cellular metabolism and immune pathways (Gut. 2016 Oct 14. doi: 10.1136/gutjnl-2016-312518).

In the colon-like subtype, the tissue samples – which were all taken from the colon – showed gene expression patterns that were typical of cells from the colon. However, in the ileum-like subtype, the gene expression patterns in these colon cells more closely resembled the gene expression of ileum cells.

They also saw significant differences in other molecular traits, such as chromatin accessibility, and pathways involved in lipid and xenobiotic metabolism.

“Furthermore, chromatin accessibility data suggest these subclasses exist due to stable molecular transformations of the genomic architecture in colon tissue cells, and not transient differences due to external cellular signaling,” researchers reported.

To rule out the possibility that these differences might be from treatment history, researchers conducted a similar analysis using samples from 201 treatment-naive pediatric patients with Crohn’s disease and found the same molecular and genetic patterns.

“Together, these data strongly suggest that the colon-like and ileum-like molecular signatures define two forms of [Crohn’s disease] present, regardless of tissue sampling location, patient age, or treatment status.”

The researchers also examined the impact the two subtypes might have on the clinical disease and therefore the therapeutic approach taken. In the cohort of treatment-naive pediatric patients, they found that patients with the more colon-like Crohn’s disease were more likely to have both colon and ileum involvement, have deep ulcers, and show more macroscopic inflammation than those with more ileum-like Crohn’s disease.

They also found that adults in the colon-like disease subclass were the only ones who were likely to have rectal disease or require a colectomy, although they noted that the sample size was small.

More patients with the ileum-like disease showed no inflammation and were also more likely to have involvement of the colon only.

“Although our sample size is small, these data suggest that molecular subtypes of [Crohn’s disease] can stratify patients into clinically distinct and relevant subgroups and may prospectively identify those more likely to require intensive medical therapy,” the authors wrote.

“As a first step, molecular stratifications of archived patient tissue and serum from major clinical trials could be performed in the context of response to biological and microbial therapies for [Crohn’s disease].”

The authors pointed out that they did not study samples from both intestinal regions in each patient but suggested that their findings should motivate future studies in larger cohorts using matched tissue samples from both the colon and ileum.

“These data emphasize the need to continue and expand these studies over time to incorporate the evolving clinical phenotype in both adult and pediatric patients, and the need to study both tissues in the same patient.”

The study was supported by the National Institute of Environmental Health Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, American Gastroenterological Association, Broad Medical Research Program, Crohn’s and Colitis Foundation of America, International Human Microbiome Consortium, UNC Team Translational Science Award, and Helmsley Charitable Trust SHARE 2, Project 3. No conflicts of interest were declared.

 

Researchers have identified two distinct molecular subclasses of Crohn’s disease, based on gene expression and phenotype, which could help with better tailoring of treatment.

Crohn’s disease is a chronic inflammatory disorder with a diverse clinical presentation and pattern of progression, yet the molecular and genetic factors underlying the disease are not well understood.

This complicates treatment – which currently relies on doctors’ subjective clinical classification – and makes it difficult to develop an evidence-based personalized approach.

Writing in the Oct. 14 online edition of Gut, Matthew Weiser, a graduate student in the genetics department at the University of North Carolina at Chapel Hill and his coauthors report the results of a genetic and molecular analysis of noninflamed colon tissue from a cohort of 21 adult patients with Crohn’s disease and from healthy controls.

This analysis revealed two distinct molecular phenotypes in colon tissue, which they labeled as “colon-like” and “ileum-like.” They found significant differences in cellular metabolism and immune pathways (Gut. 2016 Oct 14. doi: 10.1136/gutjnl-2016-312518).

In the colon-like subtype, the tissue samples – which were all taken from the colon – showed gene expression patterns that were typical of cells from the colon. However, in the ileum-like subtype, the gene expression patterns in these colon cells more closely resembled the gene expression of ileum cells.

They also saw significant differences in other molecular traits, such as chromatin accessibility, and pathways involved in lipid and xenobiotic metabolism.

“Furthermore, chromatin accessibility data suggest these subclasses exist due to stable molecular transformations of the genomic architecture in colon tissue cells, and not transient differences due to external cellular signaling,” researchers reported.

To rule out the possibility that these differences might be from treatment history, researchers conducted a similar analysis using samples from 201 treatment-naive pediatric patients with Crohn’s disease and found the same molecular and genetic patterns.

“Together, these data strongly suggest that the colon-like and ileum-like molecular signatures define two forms of [Crohn’s disease] present, regardless of tissue sampling location, patient age, or treatment status.”

The researchers also examined the impact the two subtypes might have on the clinical disease and therefore the therapeutic approach taken. In the cohort of treatment-naive pediatric patients, they found that patients with the more colon-like Crohn’s disease were more likely to have both colon and ileum involvement, have deep ulcers, and show more macroscopic inflammation than those with more ileum-like Crohn’s disease.

They also found that adults in the colon-like disease subclass were the only ones who were likely to have rectal disease or require a colectomy, although they noted that the sample size was small.

More patients with the ileum-like disease showed no inflammation and were also more likely to have involvement of the colon only.

“Although our sample size is small, these data suggest that molecular subtypes of [Crohn’s disease] can stratify patients into clinically distinct and relevant subgroups and may prospectively identify those more likely to require intensive medical therapy,” the authors wrote.

“As a first step, molecular stratifications of archived patient tissue and serum from major clinical trials could be performed in the context of response to biological and microbial therapies for [Crohn’s disease].”

The authors pointed out that they did not study samples from both intestinal regions in each patient but suggested that their findings should motivate future studies in larger cohorts using matched tissue samples from both the colon and ileum.

“These data emphasize the need to continue and expand these studies over time to incorporate the evolving clinical phenotype in both adult and pediatric patients, and the need to study both tissues in the same patient.”

The study was supported by the National Institute of Environmental Health Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, American Gastroenterological Association, Broad Medical Research Program, Crohn’s and Colitis Foundation of America, International Human Microbiome Consortium, UNC Team Translational Science Award, and Helmsley Charitable Trust SHARE 2, Project 3. No conflicts of interest were declared.

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Key clinical point: Researchers have identified two distinct molecular subclasses of Crohn’s disease, based on gene expression and phenotype, which could help with better tailoring of treatment.

Major finding: Molecular and genetic analysis has revealed a “colon-like” subtype and “ileum-like” subtype of Crohn’s disease, with distinct molecular profiles that correspond with clinical features.

Data source: Molecular and genetic analysis of samples from 21 adults with Crohn’s disease and 201 treatment-naive pediatric Crohn’s disease patients.

Disclosures: The study was supported by the National Institute of Environmental Health Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, American Gastroenterological Association, Broad Medical Research Program, Crohn’s and Colitis Foundation of America, International Human Microbiome Consortium, UNC Team Translational Science Award, and Helmsley Charitable Trust SHARE 2, Project 3. No conflicts of interest were declared.

Hepatitis infection raises non-Hodgkin lymphoma risk in HIV patients

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HIV-infected individuals on antiretroviral therapy who also have chronic coinfection with hepatitis B or C virus have an increased risk of developing non-Hodgkin lymphoma, according to new research published in Annals of Internal Medicine.

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Researchers undertook a cohort study of 52,479 treatment-naive individuals with HIV infection, using 18 of 33 cohorts from the Collaboration of Observational HIV Epidemiological Research Europe. Of these participants, 1,336 had chronic HBV and 7,506 had chronic HCV infection, and more than three-quarters (77%) later started treatment with antiretroviral therapy.

After 13 months of follow-up in the treatment-naive group and 50 months in the antiretroviral group, there were 252 cases of non-Hodgkin lymphoma in the treatment-naive group and 310 cases in the treated group (Ann Intern Med. 2016 Oct 17. doi: 10.7326/M16-0240).

Antiretroviral-treated patients with chronic hepatitis B showed a significant 74% greater risk (95% confidence interval, 1.08-2.82) and those with hepatitis C showed a 73% greater risk (95% CI, 1.21-2.46) of non-Hodgkin lymphoma compared to treated individuals with neither coinfection. However, the differences in non-Hodgkin lymphoma rates in treatment-naive HBV and HCV coinfected individuals were not significant, which the authors suggested could be due to lower numbers of events and limited follow-up.

“The median CD4 count at the time of NHL diagnosis was less than 0.250 x 109 cells/L in both ART-naive and treated patients coinfected with HBV and HCV, indicating that coinfected patients with NHL initiate ART late or have insufficient HIV viral control and immune recovery that may be due to multiple reasons,” the authors wrote. “This unfavorable constellation is aggravated by the fact that chronic HBV infection attenuates immune recovery in ART-treated patients; whether this is also the case for chronic HCV infection is less clear.”

The authors said routine screening for chronic HBV and HCV infection, in conjunction with early diagnosis and treatment of HIV infection, was essential to reduce morbidity and mortality from non-Hodgkin lymphoma.

“Our findings provide strong evidence that HCV coinfected patients with poor immune status or restoration (CD4 count lower than 0.250 x 109 cells/L) are at high risk for NHL and death and deserve high priority for access to well-tolerated, interferon-free, direct-acting antiviral treatment programs similar to those for patients with advanced liver fibrosis or cirrhosis.”

The study was supported by the European Union Seventh Framework Programme, Schweizerische Krebsliga, Agence Nationale de Recherches sur le SIDA et les Hepatites Virales (ANRS), Paris; the HIV Monitoring Foundation, Amsterdam; and the Augustinus Foundation, Copenhagen. Eleven authors declared grants, personal fees, and other support from pharmaceutical companies including those involved in the manufacture of HIV and hepatitis drugs. No other conflicts of interest were reported.

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HIV-infected individuals on antiretroviral therapy who also have chronic coinfection with hepatitis B or C virus have an increased risk of developing non-Hodgkin lymphoma, according to new research published in Annals of Internal Medicine.

©vchal/Thinkstock


Researchers undertook a cohort study of 52,479 treatment-naive individuals with HIV infection, using 18 of 33 cohorts from the Collaboration of Observational HIV Epidemiological Research Europe. Of these participants, 1,336 had chronic HBV and 7,506 had chronic HCV infection, and more than three-quarters (77%) later started treatment with antiretroviral therapy.

After 13 months of follow-up in the treatment-naive group and 50 months in the antiretroviral group, there were 252 cases of non-Hodgkin lymphoma in the treatment-naive group and 310 cases in the treated group (Ann Intern Med. 2016 Oct 17. doi: 10.7326/M16-0240).

Antiretroviral-treated patients with chronic hepatitis B showed a significant 74% greater risk (95% confidence interval, 1.08-2.82) and those with hepatitis C showed a 73% greater risk (95% CI, 1.21-2.46) of non-Hodgkin lymphoma compared to treated individuals with neither coinfection. However, the differences in non-Hodgkin lymphoma rates in treatment-naive HBV and HCV coinfected individuals were not significant, which the authors suggested could be due to lower numbers of events and limited follow-up.

“The median CD4 count at the time of NHL diagnosis was less than 0.250 x 109 cells/L in both ART-naive and treated patients coinfected with HBV and HCV, indicating that coinfected patients with NHL initiate ART late or have insufficient HIV viral control and immune recovery that may be due to multiple reasons,” the authors wrote. “This unfavorable constellation is aggravated by the fact that chronic HBV infection attenuates immune recovery in ART-treated patients; whether this is also the case for chronic HCV infection is less clear.”

The authors said routine screening for chronic HBV and HCV infection, in conjunction with early diagnosis and treatment of HIV infection, was essential to reduce morbidity and mortality from non-Hodgkin lymphoma.

“Our findings provide strong evidence that HCV coinfected patients with poor immune status or restoration (CD4 count lower than 0.250 x 109 cells/L) are at high risk for NHL and death and deserve high priority for access to well-tolerated, interferon-free, direct-acting antiviral treatment programs similar to those for patients with advanced liver fibrosis or cirrhosis.”

The study was supported by the European Union Seventh Framework Programme, Schweizerische Krebsliga, Agence Nationale de Recherches sur le SIDA et les Hepatites Virales (ANRS), Paris; the HIV Monitoring Foundation, Amsterdam; and the Augustinus Foundation, Copenhagen. Eleven authors declared grants, personal fees, and other support from pharmaceutical companies including those involved in the manufacture of HIV and hepatitis drugs. No other conflicts of interest were reported.

 

HIV-infected individuals on antiretroviral therapy who also have chronic coinfection with hepatitis B or C virus have an increased risk of developing non-Hodgkin lymphoma, according to new research published in Annals of Internal Medicine.

©vchal/Thinkstock


Researchers undertook a cohort study of 52,479 treatment-naive individuals with HIV infection, using 18 of 33 cohorts from the Collaboration of Observational HIV Epidemiological Research Europe. Of these participants, 1,336 had chronic HBV and 7,506 had chronic HCV infection, and more than three-quarters (77%) later started treatment with antiretroviral therapy.

After 13 months of follow-up in the treatment-naive group and 50 months in the antiretroviral group, there were 252 cases of non-Hodgkin lymphoma in the treatment-naive group and 310 cases in the treated group (Ann Intern Med. 2016 Oct 17. doi: 10.7326/M16-0240).

Antiretroviral-treated patients with chronic hepatitis B showed a significant 74% greater risk (95% confidence interval, 1.08-2.82) and those with hepatitis C showed a 73% greater risk (95% CI, 1.21-2.46) of non-Hodgkin lymphoma compared to treated individuals with neither coinfection. However, the differences in non-Hodgkin lymphoma rates in treatment-naive HBV and HCV coinfected individuals were not significant, which the authors suggested could be due to lower numbers of events and limited follow-up.

“The median CD4 count at the time of NHL diagnosis was less than 0.250 x 109 cells/L in both ART-naive and treated patients coinfected with HBV and HCV, indicating that coinfected patients with NHL initiate ART late or have insufficient HIV viral control and immune recovery that may be due to multiple reasons,” the authors wrote. “This unfavorable constellation is aggravated by the fact that chronic HBV infection attenuates immune recovery in ART-treated patients; whether this is also the case for chronic HCV infection is less clear.”

The authors said routine screening for chronic HBV and HCV infection, in conjunction with early diagnosis and treatment of HIV infection, was essential to reduce morbidity and mortality from non-Hodgkin lymphoma.

“Our findings provide strong evidence that HCV coinfected patients with poor immune status or restoration (CD4 count lower than 0.250 x 109 cells/L) are at high risk for NHL and death and deserve high priority for access to well-tolerated, interferon-free, direct-acting antiviral treatment programs similar to those for patients with advanced liver fibrosis or cirrhosis.”

The study was supported by the European Union Seventh Framework Programme, Schweizerische Krebsliga, Agence Nationale de Recherches sur le SIDA et les Hepatites Virales (ANRS), Paris; the HIV Monitoring Foundation, Amsterdam; and the Augustinus Foundation, Copenhagen. Eleven authors declared grants, personal fees, and other support from pharmaceutical companies including those involved in the manufacture of HIV and hepatitis drugs. No other conflicts of interest were reported.

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Key clinical point: HIV-infected individuals on antiretroviral therapy who also have chronic coinfection with hepatitis B or C virus have an increased risk of developing non-Hodgkin lymphoma.

Major finding: Antiretroviral-treated patients with chronic hepatitis B showed a significant 74% greater risk and those with hepatitis C showed a 73% greater risk of non-Hodgkin lymphoma, compared to treated individuals with neither coinfection.

Data source: A cohort study of 52,479 treatment-naive individuals with HIV infection, using 18 of 33 cohorts from the Collaboration of Observational HIV Epidemiological Research Europe.

Disclosures: The study was supported by the European Union Seventh Framework Programme, Schweizerische Krebsliga, Agence Nationale de Recherches sur le SIDA et les Hepatites Virales (ANRS), Paris; the HIV Monitoring Foundation, Amsterdam; and the Augustinus Foundation, Copenhagen. Eleven authors declared grants, personal fees, and other support from pharmaceutical companies including those involved in the manufacture of HIV and hepatitis drugs. No other conflicts of interest were reported.

Tryptase gene variant linked to GI, joint, and skin symptoms

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Researchers have identified a genetic variant associated with inherited elevated basal serum tryptase levels and linked to a distinct group of comorbid multisystem complaints.

These features, including cutaneous flushing, certain chronic pain disorders, autonomic dysfunction, and gastrointestinal dysmotility, have been reported in association with genetic disorders or joint hypermobility syndromes such as Ehlers-Danlos syndrome type III (hypermobility type, EDS III) and often follow a dominant inheritance pattern in affected families, providing a reason to look into a genetic basis for these patient characteristics, according to Jonathan J. Lyons, MD, of the National Institute of Allergy and Infectious Diseases, and his coauthors. The researchers reported their findings Oct. 17 in Nature Genetics.

ktsimage/Thinkstock
“Recently, we and others described family cohorts with symp­tom complexes conforming to these functional presentations but found them in association uniquely with elevated basal serum lev­els of tryptase – a mast cell mediator commonly used to assist in the diagnosis of mast cell–associated diseases,” they wrote. “Because elevated basal serum tryptase levels without mastocytosis is a relatively common trait in the general population and in one report has been associated with functional symptoms, we set out to identify the genetic cause for elevated tryptase levels and to characterize associated clinical phenotypes in these families and in unselected individuals.”

The researchers recruited 96 individuals from 35 families with a syndrome of elevated basal serum tryptase levels and multiple comorbid symptoms following an autosomal dominant pattern of inheritance.

These symptoms included gastrointestinal dys­motility such as irritable bowel syndrome or chronic gastroesophageal reflux, connective tissue abnormalities such as joint hypermobility, congenital skeletal abnormalities, retained primary dentition, symptoms suggestive of autonomic dysfunction such as postural orthostatic tachycardia syndrome, and elevated composite autonomic symptom scores. Other symptoms included recurrent cutaneous flushing and pruritus – often associated with urticaria and complaints of sleep disruption – and systemic reaction to stinging insects.

Using exome and genome sequencing followed by linkage analysis, researchers identified duplications and triplications within the TPSAB1 gene encoding alpha-tryptase (Nat Genet. 2016 Oct 17. doi: 10.1038/ng.3696). Further analysis found elevated alpha-tryptase/beta-tryptase ratios among affected family members and suggested that multiple copies of the alpha-tryptase sequence were inherited together.

To confirm the finding, researchers examined genetic data from a cohort of healthy unrelated volunteers in the National Human Genome Research Institute ClinSeq cohort, which identified 125 samples with partially enriched duplication of alpha tryptase–encoding sequence using a common haplotype.

Of these, three individuals had single-allele duplications of the alpha tryptase–encoding sequence and also presented with similar symptoms to the original cohort: cutaneous flushing, itching, or hives, systemic venom reactions, irritable bowel syndrome, retained primary dentition, and elevated autonomic symptom scores.

“We have found that this phenotype is most frequently inher­ited in an autosomal dominant manner and that, when this occurs, it is exclusively associated with increased copy number on a single allele of alpha tryptase–encoding sequence in the TPSAB1 gene, a genetic trait we have termed hereditary alpha-tryptasemia,” the researchers reported. “The families studied in our initial cohort likely represent the most severe phenotypes among individuals affected with hereditary alpha-tryptasemia, owing in part to the lack of detection of triplication of alpha tryptase–encoding sequence in unselected populations, which we have tentatively designated as hereditary alpha-tryptasemia syndrome.”

The authors suggested that part of the clinical presentation of this syndrome included symptoms that may be associated clinically with mast cell mediator release. In the context of elevated basal serum tryptase levels, this might prompt a doctor to investigate for clonal mast cell disease, which would include bone-marrow biopsy.

However, given that such an investigation would be challenging, and given that elevated tryptase levels are not uncommon in the generally population, they suggested tryptase genotyping may be warranted.

The study was supported by the National Institute of Allergy and Infectious Diseases, the ARTrust/the Mastocytosis Society, and the National Human Genome Research Institute. One author declared royalties associated with the tryptase UniCAP assay, and consulting fees from Genentech. Another author declared an advisory position and royalties from private industry.

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Researchers have identified a genetic variant associated with inherited elevated basal serum tryptase levels and linked to a distinct group of comorbid multisystem complaints.

These features, including cutaneous flushing, certain chronic pain disorders, autonomic dysfunction, and gastrointestinal dysmotility, have been reported in association with genetic disorders or joint hypermobility syndromes such as Ehlers-Danlos syndrome type III (hypermobility type, EDS III) and often follow a dominant inheritance pattern in affected families, providing a reason to look into a genetic basis for these patient characteristics, according to Jonathan J. Lyons, MD, of the National Institute of Allergy and Infectious Diseases, and his coauthors. The researchers reported their findings Oct. 17 in Nature Genetics.

ktsimage/Thinkstock
“Recently, we and others described family cohorts with symp­tom complexes conforming to these functional presentations but found them in association uniquely with elevated basal serum lev­els of tryptase – a mast cell mediator commonly used to assist in the diagnosis of mast cell–associated diseases,” they wrote. “Because elevated basal serum tryptase levels without mastocytosis is a relatively common trait in the general population and in one report has been associated with functional symptoms, we set out to identify the genetic cause for elevated tryptase levels and to characterize associated clinical phenotypes in these families and in unselected individuals.”

The researchers recruited 96 individuals from 35 families with a syndrome of elevated basal serum tryptase levels and multiple comorbid symptoms following an autosomal dominant pattern of inheritance.

These symptoms included gastrointestinal dys­motility such as irritable bowel syndrome or chronic gastroesophageal reflux, connective tissue abnormalities such as joint hypermobility, congenital skeletal abnormalities, retained primary dentition, symptoms suggestive of autonomic dysfunction such as postural orthostatic tachycardia syndrome, and elevated composite autonomic symptom scores. Other symptoms included recurrent cutaneous flushing and pruritus – often associated with urticaria and complaints of sleep disruption – and systemic reaction to stinging insects.

Using exome and genome sequencing followed by linkage analysis, researchers identified duplications and triplications within the TPSAB1 gene encoding alpha-tryptase (Nat Genet. 2016 Oct 17. doi: 10.1038/ng.3696). Further analysis found elevated alpha-tryptase/beta-tryptase ratios among affected family members and suggested that multiple copies of the alpha-tryptase sequence were inherited together.

To confirm the finding, researchers examined genetic data from a cohort of healthy unrelated volunteers in the National Human Genome Research Institute ClinSeq cohort, which identified 125 samples with partially enriched duplication of alpha tryptase–encoding sequence using a common haplotype.

Of these, three individuals had single-allele duplications of the alpha tryptase–encoding sequence and also presented with similar symptoms to the original cohort: cutaneous flushing, itching, or hives, systemic venom reactions, irritable bowel syndrome, retained primary dentition, and elevated autonomic symptom scores.

“We have found that this phenotype is most frequently inher­ited in an autosomal dominant manner and that, when this occurs, it is exclusively associated with increased copy number on a single allele of alpha tryptase–encoding sequence in the TPSAB1 gene, a genetic trait we have termed hereditary alpha-tryptasemia,” the researchers reported. “The families studied in our initial cohort likely represent the most severe phenotypes among individuals affected with hereditary alpha-tryptasemia, owing in part to the lack of detection of triplication of alpha tryptase–encoding sequence in unselected populations, which we have tentatively designated as hereditary alpha-tryptasemia syndrome.”

The authors suggested that part of the clinical presentation of this syndrome included symptoms that may be associated clinically with mast cell mediator release. In the context of elevated basal serum tryptase levels, this might prompt a doctor to investigate for clonal mast cell disease, which would include bone-marrow biopsy.

However, given that such an investigation would be challenging, and given that elevated tryptase levels are not uncommon in the generally population, they suggested tryptase genotyping may be warranted.

The study was supported by the National Institute of Allergy and Infectious Diseases, the ARTrust/the Mastocytosis Society, and the National Human Genome Research Institute. One author declared royalties associated with the tryptase UniCAP assay, and consulting fees from Genentech. Another author declared an advisory position and royalties from private industry.

 

Researchers have identified a genetic variant associated with inherited elevated basal serum tryptase levels and linked to a distinct group of comorbid multisystem complaints.

These features, including cutaneous flushing, certain chronic pain disorders, autonomic dysfunction, and gastrointestinal dysmotility, have been reported in association with genetic disorders or joint hypermobility syndromes such as Ehlers-Danlos syndrome type III (hypermobility type, EDS III) and often follow a dominant inheritance pattern in affected families, providing a reason to look into a genetic basis for these patient characteristics, according to Jonathan J. Lyons, MD, of the National Institute of Allergy and Infectious Diseases, and his coauthors. The researchers reported their findings Oct. 17 in Nature Genetics.

ktsimage/Thinkstock
“Recently, we and others described family cohorts with symp­tom complexes conforming to these functional presentations but found them in association uniquely with elevated basal serum lev­els of tryptase – a mast cell mediator commonly used to assist in the diagnosis of mast cell–associated diseases,” they wrote. “Because elevated basal serum tryptase levels without mastocytosis is a relatively common trait in the general population and in one report has been associated with functional symptoms, we set out to identify the genetic cause for elevated tryptase levels and to characterize associated clinical phenotypes in these families and in unselected individuals.”

The researchers recruited 96 individuals from 35 families with a syndrome of elevated basal serum tryptase levels and multiple comorbid symptoms following an autosomal dominant pattern of inheritance.

These symptoms included gastrointestinal dys­motility such as irritable bowel syndrome or chronic gastroesophageal reflux, connective tissue abnormalities such as joint hypermobility, congenital skeletal abnormalities, retained primary dentition, symptoms suggestive of autonomic dysfunction such as postural orthostatic tachycardia syndrome, and elevated composite autonomic symptom scores. Other symptoms included recurrent cutaneous flushing and pruritus – often associated with urticaria and complaints of sleep disruption – and systemic reaction to stinging insects.

Using exome and genome sequencing followed by linkage analysis, researchers identified duplications and triplications within the TPSAB1 gene encoding alpha-tryptase (Nat Genet. 2016 Oct 17. doi: 10.1038/ng.3696). Further analysis found elevated alpha-tryptase/beta-tryptase ratios among affected family members and suggested that multiple copies of the alpha-tryptase sequence were inherited together.

To confirm the finding, researchers examined genetic data from a cohort of healthy unrelated volunteers in the National Human Genome Research Institute ClinSeq cohort, which identified 125 samples with partially enriched duplication of alpha tryptase–encoding sequence using a common haplotype.

Of these, three individuals had single-allele duplications of the alpha tryptase–encoding sequence and also presented with similar symptoms to the original cohort: cutaneous flushing, itching, or hives, systemic venom reactions, irritable bowel syndrome, retained primary dentition, and elevated autonomic symptom scores.

“We have found that this phenotype is most frequently inher­ited in an autosomal dominant manner and that, when this occurs, it is exclusively associated with increased copy number on a single allele of alpha tryptase–encoding sequence in the TPSAB1 gene, a genetic trait we have termed hereditary alpha-tryptasemia,” the researchers reported. “The families studied in our initial cohort likely represent the most severe phenotypes among individuals affected with hereditary alpha-tryptasemia, owing in part to the lack of detection of triplication of alpha tryptase–encoding sequence in unselected populations, which we have tentatively designated as hereditary alpha-tryptasemia syndrome.”

The authors suggested that part of the clinical presentation of this syndrome included symptoms that may be associated clinically with mast cell mediator release. In the context of elevated basal serum tryptase levels, this might prompt a doctor to investigate for clonal mast cell disease, which would include bone-marrow biopsy.

However, given that such an investigation would be challenging, and given that elevated tryptase levels are not uncommon in the generally population, they suggested tryptase genotyping may be warranted.

The study was supported by the National Institute of Allergy and Infectious Diseases, the ARTrust/the Mastocytosis Society, and the National Human Genome Research Institute. One author declared royalties associated with the tryptase UniCAP assay, and consulting fees from Genentech. Another author declared an advisory position and royalties from private industry.

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Key clinical point: Hereditary alpha-tryptasemia is associated with elevated basal serum tryptase levels and multisystem complaints, including GI and connective tissue symptoms.

Major finding: Increased copy number on a single allele of alpha tryptase–encoding sequence in the TPSAB1 gene is associated with elevated basal serum tryptase and a collection of symptoms including irritable bowel syndrome, joint hypermobility, and autonomic dysfunction.

Data source: Study of 96 individuals from 35 families with a syndrome of elevated basal serum tryptase levels and multiple comorbid symptoms.

Disclosures: The study was supported by the National Institute of Allergy and Infectious Diseases, the ARTrust/the Mastocytosis Society, and the National Human Genome Research Institute. One author declared royalties associated with the tryptase UniCAP assay, and consulting fees from Genentech. Another author declared an advisory position and royalties from private industry.

Silicone joint arthroplasty for RA shows sustained improvements at 7 years

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Rheumatoid arthritis patients who underwent silicone metacarpophalangeal joint replacement maintained significant improvement in ulnar drift and extensor lag after 7 years of follow-up in the prospective, multicenter Silicone Arthroplasty in Rheumatoid Arthritis (SARA) study.

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Rhumatoid arthritis hands with ulnar drift
Investigators led by Kevin C. Chung, MD, and his colleagues from the University of Michigan, Ann Arbor, conducted what they claim is the largest prospective cohort study yet of RA joint replacement surgery by following 170 patients with RA, 73 of whom had elected to undergo SMPA with a Swanson implant and 97 who chose nonsurgical management. Patients were selected because they had severe deformity at the MCP joints, based on their combined ulnar deviation and an extensor lag greater than or equal to 50 degrees on average for each finger.

The practice of replacing deformed MCP joints with a hinged silicone implant has been around for almost half a century, the investigators noted, but despite widespread use, there is a lack of high-quality surgical outcomes data for the procedure. The authors suggested that the scarcity of data may create a barrier for surgical referrals from rheumatologists and could account for the declining rate of surgical intervention for RA joint deformities.

The significant improvement in ulnar drift that occurred in patients who underwent SMPA versus no surgery remained even after adjustment for baseline severity, age, sex, and use of biologics. The adjustment was especially important because the nonsurgical group had better function at baseline, with significantly stronger grip and pinch strength, better Michigan Hand Questionnaire (MHQ) scores, and significantly better ulnar drift, extensor lag, and arc of motion than in the surgical group (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23105).

The nonsurgical group largely maintained its baseline functional state during the 7-year follow-up period except for a decline in pinch strength.

“When the SMPA cohort was compared with the non-SMPA cohort, the covariate-adjusted difference showed significant benefits associated with SMPA hand outcome as measured by the MHQ function, aesthetics, and satisfaction scores, with no measures showing significantly better outcomes for the non-SMPA group,” the researchers wrote. “Although the average treatment effect estimate (ATT estimate) showed a decline over time for the average benefit from SMPA in those treated, the function score benefit as shown by the ATT estimate remained significant at year 5.”

Patients in the nonsurgical group were also given the option to crossover and receive surgery after 1 year, which two did. Eleven patients in the surgical group also decided to undergo surgery on their other hand.

Researchers saw one mild and three moderate implant-related adverse events during the study, including one patient who experienced ulnar deviation and needed a new joint replacement, one who dislocated the implant of the little finger a few weeks after insertion, and one who experienced sepsis in the joints 6 years after insertion and needed replacements for two implants. The fracture incidence of about 10% fits into the mid-range of previously reported fracture rates with this implant.

The study experienced significant losses to follow-up, particularly in the surgical group in which 7-year data were only available for 43% of participants in this group. The authors suggested this could have been because the surgical patients achieved their goals and were less inclined to the follow-up visits.

The study was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. No conflicts of interest were declared.
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Rheumatoid arthritis patients who underwent silicone metacarpophalangeal joint replacement maintained significant improvement in ulnar drift and extensor lag after 7 years of follow-up in the prospective, multicenter Silicone Arthroplasty in Rheumatoid Arthritis (SARA) study.

iStock
Rhumatoid arthritis hands with ulnar drift
Investigators led by Kevin C. Chung, MD, and his colleagues from the University of Michigan, Ann Arbor, conducted what they claim is the largest prospective cohort study yet of RA joint replacement surgery by following 170 patients with RA, 73 of whom had elected to undergo SMPA with a Swanson implant and 97 who chose nonsurgical management. Patients were selected because they had severe deformity at the MCP joints, based on their combined ulnar deviation and an extensor lag greater than or equal to 50 degrees on average for each finger.

The practice of replacing deformed MCP joints with a hinged silicone implant has been around for almost half a century, the investigators noted, but despite widespread use, there is a lack of high-quality surgical outcomes data for the procedure. The authors suggested that the scarcity of data may create a barrier for surgical referrals from rheumatologists and could account for the declining rate of surgical intervention for RA joint deformities.

The significant improvement in ulnar drift that occurred in patients who underwent SMPA versus no surgery remained even after adjustment for baseline severity, age, sex, and use of biologics. The adjustment was especially important because the nonsurgical group had better function at baseline, with significantly stronger grip and pinch strength, better Michigan Hand Questionnaire (MHQ) scores, and significantly better ulnar drift, extensor lag, and arc of motion than in the surgical group (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23105).

The nonsurgical group largely maintained its baseline functional state during the 7-year follow-up period except for a decline in pinch strength.

“When the SMPA cohort was compared with the non-SMPA cohort, the covariate-adjusted difference showed significant benefits associated with SMPA hand outcome as measured by the MHQ function, aesthetics, and satisfaction scores, with no measures showing significantly better outcomes for the non-SMPA group,” the researchers wrote. “Although the average treatment effect estimate (ATT estimate) showed a decline over time for the average benefit from SMPA in those treated, the function score benefit as shown by the ATT estimate remained significant at year 5.”

Patients in the nonsurgical group were also given the option to crossover and receive surgery after 1 year, which two did. Eleven patients in the surgical group also decided to undergo surgery on their other hand.

Researchers saw one mild and three moderate implant-related adverse events during the study, including one patient who experienced ulnar deviation and needed a new joint replacement, one who dislocated the implant of the little finger a few weeks after insertion, and one who experienced sepsis in the joints 6 years after insertion and needed replacements for two implants. The fracture incidence of about 10% fits into the mid-range of previously reported fracture rates with this implant.

The study experienced significant losses to follow-up, particularly in the surgical group in which 7-year data were only available for 43% of participants in this group. The authors suggested this could have been because the surgical patients achieved their goals and were less inclined to the follow-up visits.

The study was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. No conflicts of interest were declared.

 

Rheumatoid arthritis patients who underwent silicone metacarpophalangeal joint replacement maintained significant improvement in ulnar drift and extensor lag after 7 years of follow-up in the prospective, multicenter Silicone Arthroplasty in Rheumatoid Arthritis (SARA) study.

iStock
Rhumatoid arthritis hands with ulnar drift
Investigators led by Kevin C. Chung, MD, and his colleagues from the University of Michigan, Ann Arbor, conducted what they claim is the largest prospective cohort study yet of RA joint replacement surgery by following 170 patients with RA, 73 of whom had elected to undergo SMPA with a Swanson implant and 97 who chose nonsurgical management. Patients were selected because they had severe deformity at the MCP joints, based on their combined ulnar deviation and an extensor lag greater than or equal to 50 degrees on average for each finger.

The practice of replacing deformed MCP joints with a hinged silicone implant has been around for almost half a century, the investigators noted, but despite widespread use, there is a lack of high-quality surgical outcomes data for the procedure. The authors suggested that the scarcity of data may create a barrier for surgical referrals from rheumatologists and could account for the declining rate of surgical intervention for RA joint deformities.

The significant improvement in ulnar drift that occurred in patients who underwent SMPA versus no surgery remained even after adjustment for baseline severity, age, sex, and use of biologics. The adjustment was especially important because the nonsurgical group had better function at baseline, with significantly stronger grip and pinch strength, better Michigan Hand Questionnaire (MHQ) scores, and significantly better ulnar drift, extensor lag, and arc of motion than in the surgical group (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23105).

The nonsurgical group largely maintained its baseline functional state during the 7-year follow-up period except for a decline in pinch strength.

“When the SMPA cohort was compared with the non-SMPA cohort, the covariate-adjusted difference showed significant benefits associated with SMPA hand outcome as measured by the MHQ function, aesthetics, and satisfaction scores, with no measures showing significantly better outcomes for the non-SMPA group,” the researchers wrote. “Although the average treatment effect estimate (ATT estimate) showed a decline over time for the average benefit from SMPA in those treated, the function score benefit as shown by the ATT estimate remained significant at year 5.”

Patients in the nonsurgical group were also given the option to crossover and receive surgery after 1 year, which two did. Eleven patients in the surgical group also decided to undergo surgery on their other hand.

Researchers saw one mild and three moderate implant-related adverse events during the study, including one patient who experienced ulnar deviation and needed a new joint replacement, one who dislocated the implant of the little finger a few weeks after insertion, and one who experienced sepsis in the joints 6 years after insertion and needed replacements for two implants. The fracture incidence of about 10% fits into the mid-range of previously reported fracture rates with this implant.

The study experienced significant losses to follow-up, particularly in the surgical group in which 7-year data were only available for 43% of participants in this group. The authors suggested this could have been because the surgical patients achieved their goals and were less inclined to the follow-up visits.

The study was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. No conflicts of interest were declared.
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Key clinical point: Silicone MCP joint replacement in rheumatoid arthritis is associated with significant and sustained improvements in ulnar drift and extensor lag.

Major finding: Patients who elected to undergo silicone MCP joint replacement showed significant improvements in ulnar drift and extensor lag, as well as in function, aesthetics, and satisfaction scores at 7 years after the procedure.

Data source: Cohort study of 170 patients with rheumatoid arthritis–related severe deformity at the metacarpophalangeal joints.

Disclosures: The study was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. No conflicts of interest were declared.

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More restrictive hemoglobin threshold recommended for transfusion

Guidelines support individualized transfusion decisions
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New guidelines on red blood cell blood transfusion recommend a restrictive threshold in which transfusion is not indicated until the hemoglobin level is 7-8 g/dL for most patients, finding that it is safe in most clinical settings.

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The two-tiered approach of this important update to the red blood cell transfusion guidelines acknowledges the current state of the evidence and also provides support for making more individualized transfusion decisions.

These new guidelines represent medicine at its best in that they are evidence based, derived from randomized controlled trials, reflect important clinical perspectives, and are definitive for conditions in which data are substantial, but provide greater flexibility for conditions in which data are less certain.

One major limitation of these guidelines is that they are based on hemoglobin level as the transfusion trigger, when good clinical practice dictates that the decision to transfuse should also be based on clinical factors, availability of alternative therapies, and patient preferences.
 

Mark H. Yazer, MD and Darrell J. Triulzi, MD, are in the division of transfusion medicine at the University of Pittsburgh Medical Center. These comments are adapted from an editorial (JAMA 2016, Oct 12. doi: 10.1001/jama.2016.10887 ). Dr Triulzi reported receiving grants from the National Heart, Lung, and Blood Institute; and receiving personal fees for serving on an advisory board for Fresenius Kabi.

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The two-tiered approach of this important update to the red blood cell transfusion guidelines acknowledges the current state of the evidence and also provides support for making more individualized transfusion decisions.

These new guidelines represent medicine at its best in that they are evidence based, derived from randomized controlled trials, reflect important clinical perspectives, and are definitive for conditions in which data are substantial, but provide greater flexibility for conditions in which data are less certain.

One major limitation of these guidelines is that they are based on hemoglobin level as the transfusion trigger, when good clinical practice dictates that the decision to transfuse should also be based on clinical factors, availability of alternative therapies, and patient preferences.
 

Mark H. Yazer, MD and Darrell J. Triulzi, MD, are in the division of transfusion medicine at the University of Pittsburgh Medical Center. These comments are adapted from an editorial (JAMA 2016, Oct 12. doi: 10.1001/jama.2016.10887 ). Dr Triulzi reported receiving grants from the National Heart, Lung, and Blood Institute; and receiving personal fees for serving on an advisory board for Fresenius Kabi.

Body

 

The two-tiered approach of this important update to the red blood cell transfusion guidelines acknowledges the current state of the evidence and also provides support for making more individualized transfusion decisions.

These new guidelines represent medicine at its best in that they are evidence based, derived from randomized controlled trials, reflect important clinical perspectives, and are definitive for conditions in which data are substantial, but provide greater flexibility for conditions in which data are less certain.

One major limitation of these guidelines is that they are based on hemoglobin level as the transfusion trigger, when good clinical practice dictates that the decision to transfuse should also be based on clinical factors, availability of alternative therapies, and patient preferences.
 

Mark H. Yazer, MD and Darrell J. Triulzi, MD, are in the division of transfusion medicine at the University of Pittsburgh Medical Center. These comments are adapted from an editorial (JAMA 2016, Oct 12. doi: 10.1001/jama.2016.10887 ). Dr Triulzi reported receiving grants from the National Heart, Lung, and Blood Institute; and receiving personal fees for serving on an advisory board for Fresenius Kabi.

Title
Guidelines support individualized transfusion decisions
Guidelines support individualized transfusion decisions

 

New guidelines on red blood cell blood transfusion recommend a restrictive threshold in which transfusion is not indicated until the hemoglobin level is 7-8 g/dL for most patients, finding that it is safe in most clinical settings.

 

New guidelines on red blood cell blood transfusion recommend a restrictive threshold in which transfusion is not indicated until the hemoglobin level is 7-8 g/dL for most patients, finding that it is safe in most clinical settings.

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Key clinical point: A restrictive threshold for red blood cell transfusion, in which transfusion is not indicated until the hemoglobin level is 7-8 g/dL, is now recommended for most patients.

Major finding: A more restrictive threshold for red blood cell transfusion is not associated with an increased risk of mortality or other adverse outcomes from transfusion.

Data source: Updated guidelines from the AABB (formerly known as the American Association of Blood Banks).

Disclosures: Guideline development was supported by AABB. Four authors declared grants, fees, stock options or consultancies from pharmaceutical companies including CSL and Fresenius Kabi, but no other conflicts of interest were declared.

TNF inhibitors’ effect on ankylosing spondylitis progression may be greatest after 6 years

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The benefits of treatment with TNF-alpha inhibitors in reducing spinal radiographic progression in ankylosing spondylitis became most evident 6-8 years after the biologic therapy was initiated, according to findings from a prospective observational cohort study.

The study enrolled 210 consecutive patients from the Groningen Leeuwarden AS (GLAS) cohort who initiated treatment with TNF-alpha inhibitors during 2004-2012 and who received baseline and biannual radiographs over the 8-year follow-up.

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radiograph of ankylosing spondylitis
The radiographs were scored by two readers blinded to patient characteristics and also were randomized with radiographs from patients with ankylosing spondylitis who had not taken TNF-alpha inhibitors during the 8-year period (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23097).

In patients with complete modified Stoke AS Spine Score (mSASSS) data over 8 years of follow-up, the estimated mean spinal radiographic progression was 2.3 points during the first 2 years of treatment and then declined steadily to 1.4 in years 2-4, 1.0 in years 4-6 and 0.8 in years 6-8. This decrease was seen even after adjusting for baseline mSASSS, the presence of syndesmophytes, sex, HLA-B27 status, age, symptom duration, smoking duration, body mass index, disease activity, and NSAID use.

Patients with longer follow-up also showed more use of NSAIDs, higher C-reactive protein levels, and more spinal radiographic damage at baseline. There were, however, significant improvements in all disease activity measures as soon as patients began treatment, and patients also showed a rapid decrease in NSAID use over time, said Fiona Maas of the University Medical Center Groningen (Netherlands) and her associates.

Multiple studies have been conducted into the impact of TNF-alpha inhibitors on spinal radiographic progression in ankylosing spondylitis, but the results have been subject to some debate, the investigators noted.

“It is known that radiographic progression in AS is overall slow and highly variable between patients,” they wrote. “Therefore, differences in patient numbers at the different time points during follow-up can affect the outcome measure of interest, in this case radiographic progression.”

In this study, researchers saw a straightforward linear progression of disease in the first 4 years after treatment was initiated but a deflection from linear progression in years 6 and 8.

“These results may refer to a delayed effect of TNF-alpha inhibitors on radiographic progression and support the TNF brake hypothesis,” they wrote, suggesting that the long-term inhibition of inflammation with TNF-alpha inhibitors diminishes new bone formation over time in patients with longstanding disease.

The GLAS cohort was supported Pfizer. Four authors declared research grants and consulting fees from pharmaceutical companies including Pfizer. No other conflicts of interest were declared.
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The benefits of treatment with TNF-alpha inhibitors in reducing spinal radiographic progression in ankylosing spondylitis became most evident 6-8 years after the biologic therapy was initiated, according to findings from a prospective observational cohort study.

The study enrolled 210 consecutive patients from the Groningen Leeuwarden AS (GLAS) cohort who initiated treatment with TNF-alpha inhibitors during 2004-2012 and who received baseline and biannual radiographs over the 8-year follow-up.

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radiograph of ankylosing spondylitis
The radiographs were scored by two readers blinded to patient characteristics and also were randomized with radiographs from patients with ankylosing spondylitis who had not taken TNF-alpha inhibitors during the 8-year period (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23097).

In patients with complete modified Stoke AS Spine Score (mSASSS) data over 8 years of follow-up, the estimated mean spinal radiographic progression was 2.3 points during the first 2 years of treatment and then declined steadily to 1.4 in years 2-4, 1.0 in years 4-6 and 0.8 in years 6-8. This decrease was seen even after adjusting for baseline mSASSS, the presence of syndesmophytes, sex, HLA-B27 status, age, symptom duration, smoking duration, body mass index, disease activity, and NSAID use.

Patients with longer follow-up also showed more use of NSAIDs, higher C-reactive protein levels, and more spinal radiographic damage at baseline. There were, however, significant improvements in all disease activity measures as soon as patients began treatment, and patients also showed a rapid decrease in NSAID use over time, said Fiona Maas of the University Medical Center Groningen (Netherlands) and her associates.

Multiple studies have been conducted into the impact of TNF-alpha inhibitors on spinal radiographic progression in ankylosing spondylitis, but the results have been subject to some debate, the investigators noted.

“It is known that radiographic progression in AS is overall slow and highly variable between patients,” they wrote. “Therefore, differences in patient numbers at the different time points during follow-up can affect the outcome measure of interest, in this case radiographic progression.”

In this study, researchers saw a straightforward linear progression of disease in the first 4 years after treatment was initiated but a deflection from linear progression in years 6 and 8.

“These results may refer to a delayed effect of TNF-alpha inhibitors on radiographic progression and support the TNF brake hypothesis,” they wrote, suggesting that the long-term inhibition of inflammation with TNF-alpha inhibitors diminishes new bone formation over time in patients with longstanding disease.

The GLAS cohort was supported Pfizer. Four authors declared research grants and consulting fees from pharmaceutical companies including Pfizer. No other conflicts of interest were declared.

 

The benefits of treatment with TNF-alpha inhibitors in reducing spinal radiographic progression in ankylosing spondylitis became most evident 6-8 years after the biologic therapy was initiated, according to findings from a prospective observational cohort study.

The study enrolled 210 consecutive patients from the Groningen Leeuwarden AS (GLAS) cohort who initiated treatment with TNF-alpha inhibitors during 2004-2012 and who received baseline and biannual radiographs over the 8-year follow-up.

feellife/Thinkstock
radiograph of ankylosing spondylitis
The radiographs were scored by two readers blinded to patient characteristics and also were randomized with radiographs from patients with ankylosing spondylitis who had not taken TNF-alpha inhibitors during the 8-year period (Arthritis Care Res. 2016 Oct 1. doi: 10.1002/acr.23097).

In patients with complete modified Stoke AS Spine Score (mSASSS) data over 8 years of follow-up, the estimated mean spinal radiographic progression was 2.3 points during the first 2 years of treatment and then declined steadily to 1.4 in years 2-4, 1.0 in years 4-6 and 0.8 in years 6-8. This decrease was seen even after adjusting for baseline mSASSS, the presence of syndesmophytes, sex, HLA-B27 status, age, symptom duration, smoking duration, body mass index, disease activity, and NSAID use.

Patients with longer follow-up also showed more use of NSAIDs, higher C-reactive protein levels, and more spinal radiographic damage at baseline. There were, however, significant improvements in all disease activity measures as soon as patients began treatment, and patients also showed a rapid decrease in NSAID use over time, said Fiona Maas of the University Medical Center Groningen (Netherlands) and her associates.

Multiple studies have been conducted into the impact of TNF-alpha inhibitors on spinal radiographic progression in ankylosing spondylitis, but the results have been subject to some debate, the investigators noted.

“It is known that radiographic progression in AS is overall slow and highly variable between patients,” they wrote. “Therefore, differences in patient numbers at the different time points during follow-up can affect the outcome measure of interest, in this case radiographic progression.”

In this study, researchers saw a straightforward linear progression of disease in the first 4 years after treatment was initiated but a deflection from linear progression in years 6 and 8.

“These results may refer to a delayed effect of TNF-alpha inhibitors on radiographic progression and support the TNF brake hypothesis,” they wrote, suggesting that the long-term inhibition of inflammation with TNF-alpha inhibitors diminishes new bone formation over time in patients with longstanding disease.

The GLAS cohort was supported Pfizer. Four authors declared research grants and consulting fees from pharmaceutical companies including Pfizer. No other conflicts of interest were declared.
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Key clinical point: The benefits of TNF-alpha inhibitors in reducing spinal radiographic progression in ankylosing spondylitis become most evident 6-8 years after treatment initiation.

Major finding: Spinal radiographic progression rates on the modified Stoke AS Spine Score in ankylosing spondylitis patients treated with TNF-alpha inhibitors dropped from 2.3 during the first 2 years of treatment to 0.8 in years 6-8 after treatment initiation.

Data source: The Groningen Leeuwarden AS (GLAS) prospective observational cohort study involving 210 patients with ankylosing spondylitis.

Disclosures: The GLAS cohort was supported by Pfizer. Four authors declared research grants and consulting fees from pharmaceutical companies, including Pfizer. No other conflicts of interest were declared.