User login
Diagnosis of bleeding disorders in girls and women can lag behind diagnosis in boys and men by more than a decade, meaning needless delays in treatment and poor quality of life for many with hemophilia or related conditions.
“There is increasing awareness about issues faced by women and girls with inherited bleeding disorders, but disparities still exist both in both access to diagnosis and treatment,” said Roseline D’Oiron, MD, from Hôpital Bicêtre in Paris.
“Diagnosis, when it is made, is often made late, particularly in women. Indeed, a recent study from the European Hemophilia Consortium including more than 700 women with bleeding disorders showed that the median age at diagnosis was 16 years old,” she said during the annual congress of the European Association for Haemophilia and Allied Disorders.
She said that delayed diagnosis of bleeding disorders in women and girls may be caused by a lack of knowledge by patients, families, and general practitioners about family history of bleeding disorders, abnormal bleeding events, and heavy menstrual bleeding. In addition, despite the frequency and severity of heavy bleeding events, patients, their families, and caregivers may underestimate the effect on the patient’s quality of life.
Disparities documented
Dr. D’Oiron pointed to several studies showing clear sex-based disparities in time to diagnosis. For example, a study published in Haemophilia showed that in 22 girls with hemophilia A or hemophilia B, the diagnosis of severe hemophilia was delayed by a median of 6.5 months compared with the diagnosis in boys, and a diagnosis of moderate hemophilia in girls was delayed by a median of 39 months.
In a second, single-center study comparing 44 women and girls with mild hemophilia (factor VIII or factor XI levels from 5 to 50 IU/dL) with 77 men and boys with mild hemophilia, the mean age at diagnosis was 31.63 years versus 19.18 years, respectively – a delay of 12.45 years.
A third study comparing 442 girls/women and 442 boys/men with mild hemophilia in France showed a difference of 6.07 years in diagnosis: the median age for girls/women at diagnosis was 16.91 years versus10.84 years for boys/men.
Why it matters
Dr. D’Oiron described the case of a patient named Clare, who first experienced, at age 8, 12 hours of bleeding following a dental procedure. At age 12.5, she began having heavy menstrual bleeding, causing her to miss school for a few days each month, to be feel tired, and have poor-quality sleep.
Despite repeated bleeding episodes, severe anemia, and iron deficiency, her hemophilia was not suspected until after her 16th birthday, and a definitive diagnosis of hemophilia in both Clare and her mother was finally made when Clare was past 17, when a nonsense variant factor in F8, the gene encoding for factor VIII, was detected.
“For Clare, it took more the 8 years after the first bleeding symptoms, and nearly 4 years after presenting with heavy menstrual bleeding to recognize that she had a bleeding problem,” she said.
In total, Clare had about 450 days of heavy menstrual bleeding, causing her to miss an estimated 140 days of school because of the delayed diagnosis and treatment.
“In my view, this is the main argument why it is urgent for these patients to achieve diagnosis early: this is to reduce the duration [of] a very poor quality of life,” Dr. D’Oiron said.
Barriers to diagnosis
Patients and families have reported difficulty distinguishing normal bleeding from abnormal symptoms, and girls may be reluctant to discuss their symptoms with their family or peers. In addition, primary care practitioners may not recognize the severity of the symptoms and therefore may not refer patients to hematologists for further workup.
These findings emphasize the need for improved tools to help patients differentiate between normal and abnormal bleeding, using symptom recognition–based language tools that can lead to early testing and application of accurate diagnostic tools, she said.
Standardization of definitions can help to improve screening and diagnosis, Dr. D’Oiron said, pointing to a recent study in Blood Advances proposing definitions for future research in von Willebrand disease.
For example, the authors of that study proposed a definition of heavy menstrual bleeding to include any of the following:
- Bleeding lasting 8 or more days
- Bleeding that consistently soaks through one or more sanitary protections every 2 hours on multiple days
- Requires use of more than one sanitary protection item at a time
- Requires changing sanitary protection during the night
- Is associated with repeat passing of blood clots
- Has a Pictorial Blood Assessment Chart score greater than 100.
Problem and solutions
Answering the question posed in the title of her talk, Dr. D’Oiron said: “Yes, we do have a problem with the diagnosis of bleeding disorders in women and girls, but we also have solutions.”
The solutions include family and patient outreach efforts; communication to improve awareness; inclusion of general practitioners in the circle of care; and early screening, diagnosis, and treatment.
A bleeding disorders specialist who was not involved in the study said that Dr. D’Oiron’s report closely reflects what she sees in the clinic.
“I do pediatrics, and usually what happens is that I see a teenager with heavy menstrual bleeding and we take her history, and we find out that Mom and multiple female family members have had horrible menstrual bleeding, possibly many of whom have had hysterectomies for it, and then diagnosing the parents and other family members after diagnosing the girl that we’re seeing” said Veronica H. Flood, MD, from the Medical College of Wisconsin, Milwaukee.
“It is unfortunately a very real thing,” she added.
Reasons for the delay likely include lack of awareness of bleeding disorders.
“If you present to a hematologist, we think about bleeding disorders, but if you present to a primary care physician, they don’t always have that on their radar,” she said.
Additionally, a girl from a family with a history of heavy menstrual bleeding may just assume that what she is experiencing is “normal,” despite the serious affect it has on her quality of life, Dr. Flood said.
Dr. D’Oiron’s research is supported by her institution, the French Hemophilia Association, FranceCoag and Mhemon, the European Hemophilia Consortium, and the World Federation of Hemophilia. She reported advisory board or invited speaker activities for multiple companies. Dr. Flood reported having no conflicts of interest to disclose.
Diagnosis of bleeding disorders in girls and women can lag behind diagnosis in boys and men by more than a decade, meaning needless delays in treatment and poor quality of life for many with hemophilia or related conditions.
“There is increasing awareness about issues faced by women and girls with inherited bleeding disorders, but disparities still exist both in both access to diagnosis and treatment,” said Roseline D’Oiron, MD, from Hôpital Bicêtre in Paris.
“Diagnosis, when it is made, is often made late, particularly in women. Indeed, a recent study from the European Hemophilia Consortium including more than 700 women with bleeding disorders showed that the median age at diagnosis was 16 years old,” she said during the annual congress of the European Association for Haemophilia and Allied Disorders.
She said that delayed diagnosis of bleeding disorders in women and girls may be caused by a lack of knowledge by patients, families, and general practitioners about family history of bleeding disorders, abnormal bleeding events, and heavy menstrual bleeding. In addition, despite the frequency and severity of heavy bleeding events, patients, their families, and caregivers may underestimate the effect on the patient’s quality of life.
Disparities documented
Dr. D’Oiron pointed to several studies showing clear sex-based disparities in time to diagnosis. For example, a study published in Haemophilia showed that in 22 girls with hemophilia A or hemophilia B, the diagnosis of severe hemophilia was delayed by a median of 6.5 months compared with the diagnosis in boys, and a diagnosis of moderate hemophilia in girls was delayed by a median of 39 months.
In a second, single-center study comparing 44 women and girls with mild hemophilia (factor VIII or factor XI levels from 5 to 50 IU/dL) with 77 men and boys with mild hemophilia, the mean age at diagnosis was 31.63 years versus 19.18 years, respectively – a delay of 12.45 years.
A third study comparing 442 girls/women and 442 boys/men with mild hemophilia in France showed a difference of 6.07 years in diagnosis: the median age for girls/women at diagnosis was 16.91 years versus10.84 years for boys/men.
Why it matters
Dr. D’Oiron described the case of a patient named Clare, who first experienced, at age 8, 12 hours of bleeding following a dental procedure. At age 12.5, she began having heavy menstrual bleeding, causing her to miss school for a few days each month, to be feel tired, and have poor-quality sleep.
Despite repeated bleeding episodes, severe anemia, and iron deficiency, her hemophilia was not suspected until after her 16th birthday, and a definitive diagnosis of hemophilia in both Clare and her mother was finally made when Clare was past 17, when a nonsense variant factor in F8, the gene encoding for factor VIII, was detected.
“For Clare, it took more the 8 years after the first bleeding symptoms, and nearly 4 years after presenting with heavy menstrual bleeding to recognize that she had a bleeding problem,” she said.
In total, Clare had about 450 days of heavy menstrual bleeding, causing her to miss an estimated 140 days of school because of the delayed diagnosis and treatment.
“In my view, this is the main argument why it is urgent for these patients to achieve diagnosis early: this is to reduce the duration [of] a very poor quality of life,” Dr. D’Oiron said.
Barriers to diagnosis
Patients and families have reported difficulty distinguishing normal bleeding from abnormal symptoms, and girls may be reluctant to discuss their symptoms with their family or peers. In addition, primary care practitioners may not recognize the severity of the symptoms and therefore may not refer patients to hematologists for further workup.
These findings emphasize the need for improved tools to help patients differentiate between normal and abnormal bleeding, using symptom recognition–based language tools that can lead to early testing and application of accurate diagnostic tools, she said.
Standardization of definitions can help to improve screening and diagnosis, Dr. D’Oiron said, pointing to a recent study in Blood Advances proposing definitions for future research in von Willebrand disease.
For example, the authors of that study proposed a definition of heavy menstrual bleeding to include any of the following:
- Bleeding lasting 8 or more days
- Bleeding that consistently soaks through one or more sanitary protections every 2 hours on multiple days
- Requires use of more than one sanitary protection item at a time
- Requires changing sanitary protection during the night
- Is associated with repeat passing of blood clots
- Has a Pictorial Blood Assessment Chart score greater than 100.
Problem and solutions
Answering the question posed in the title of her talk, Dr. D’Oiron said: “Yes, we do have a problem with the diagnosis of bleeding disorders in women and girls, but we also have solutions.”
The solutions include family and patient outreach efforts; communication to improve awareness; inclusion of general practitioners in the circle of care; and early screening, diagnosis, and treatment.
A bleeding disorders specialist who was not involved in the study said that Dr. D’Oiron’s report closely reflects what she sees in the clinic.
“I do pediatrics, and usually what happens is that I see a teenager with heavy menstrual bleeding and we take her history, and we find out that Mom and multiple female family members have had horrible menstrual bleeding, possibly many of whom have had hysterectomies for it, and then diagnosing the parents and other family members after diagnosing the girl that we’re seeing” said Veronica H. Flood, MD, from the Medical College of Wisconsin, Milwaukee.
“It is unfortunately a very real thing,” she added.
Reasons for the delay likely include lack of awareness of bleeding disorders.
“If you present to a hematologist, we think about bleeding disorders, but if you present to a primary care physician, they don’t always have that on their radar,” she said.
Additionally, a girl from a family with a history of heavy menstrual bleeding may just assume that what she is experiencing is “normal,” despite the serious affect it has on her quality of life, Dr. Flood said.
Dr. D’Oiron’s research is supported by her institution, the French Hemophilia Association, FranceCoag and Mhemon, the European Hemophilia Consortium, and the World Federation of Hemophilia. She reported advisory board or invited speaker activities for multiple companies. Dr. Flood reported having no conflicts of interest to disclose.
Diagnosis of bleeding disorders in girls and women can lag behind diagnosis in boys and men by more than a decade, meaning needless delays in treatment and poor quality of life for many with hemophilia or related conditions.
“There is increasing awareness about issues faced by women and girls with inherited bleeding disorders, but disparities still exist both in both access to diagnosis and treatment,” said Roseline D’Oiron, MD, from Hôpital Bicêtre in Paris.
“Diagnosis, when it is made, is often made late, particularly in women. Indeed, a recent study from the European Hemophilia Consortium including more than 700 women with bleeding disorders showed that the median age at diagnosis was 16 years old,” she said during the annual congress of the European Association for Haemophilia and Allied Disorders.
She said that delayed diagnosis of bleeding disorders in women and girls may be caused by a lack of knowledge by patients, families, and general practitioners about family history of bleeding disorders, abnormal bleeding events, and heavy menstrual bleeding. In addition, despite the frequency and severity of heavy bleeding events, patients, their families, and caregivers may underestimate the effect on the patient’s quality of life.
Disparities documented
Dr. D’Oiron pointed to several studies showing clear sex-based disparities in time to diagnosis. For example, a study published in Haemophilia showed that in 22 girls with hemophilia A or hemophilia B, the diagnosis of severe hemophilia was delayed by a median of 6.5 months compared with the diagnosis in boys, and a diagnosis of moderate hemophilia in girls was delayed by a median of 39 months.
In a second, single-center study comparing 44 women and girls with mild hemophilia (factor VIII or factor XI levels from 5 to 50 IU/dL) with 77 men and boys with mild hemophilia, the mean age at diagnosis was 31.63 years versus 19.18 years, respectively – a delay of 12.45 years.
A third study comparing 442 girls/women and 442 boys/men with mild hemophilia in France showed a difference of 6.07 years in diagnosis: the median age for girls/women at diagnosis was 16.91 years versus10.84 years for boys/men.
Why it matters
Dr. D’Oiron described the case of a patient named Clare, who first experienced, at age 8, 12 hours of bleeding following a dental procedure. At age 12.5, she began having heavy menstrual bleeding, causing her to miss school for a few days each month, to be feel tired, and have poor-quality sleep.
Despite repeated bleeding episodes, severe anemia, and iron deficiency, her hemophilia was not suspected until after her 16th birthday, and a definitive diagnosis of hemophilia in both Clare and her mother was finally made when Clare was past 17, when a nonsense variant factor in F8, the gene encoding for factor VIII, was detected.
“For Clare, it took more the 8 years after the first bleeding symptoms, and nearly 4 years after presenting with heavy menstrual bleeding to recognize that she had a bleeding problem,” she said.
In total, Clare had about 450 days of heavy menstrual bleeding, causing her to miss an estimated 140 days of school because of the delayed diagnosis and treatment.
“In my view, this is the main argument why it is urgent for these patients to achieve diagnosis early: this is to reduce the duration [of] a very poor quality of life,” Dr. D’Oiron said.
Barriers to diagnosis
Patients and families have reported difficulty distinguishing normal bleeding from abnormal symptoms, and girls may be reluctant to discuss their symptoms with their family or peers. In addition, primary care practitioners may not recognize the severity of the symptoms and therefore may not refer patients to hematologists for further workup.
These findings emphasize the need for improved tools to help patients differentiate between normal and abnormal bleeding, using symptom recognition–based language tools that can lead to early testing and application of accurate diagnostic tools, she said.
Standardization of definitions can help to improve screening and diagnosis, Dr. D’Oiron said, pointing to a recent study in Blood Advances proposing definitions for future research in von Willebrand disease.
For example, the authors of that study proposed a definition of heavy menstrual bleeding to include any of the following:
- Bleeding lasting 8 or more days
- Bleeding that consistently soaks through one or more sanitary protections every 2 hours on multiple days
- Requires use of more than one sanitary protection item at a time
- Requires changing sanitary protection during the night
- Is associated with repeat passing of blood clots
- Has a Pictorial Blood Assessment Chart score greater than 100.
Problem and solutions
Answering the question posed in the title of her talk, Dr. D’Oiron said: “Yes, we do have a problem with the diagnosis of bleeding disorders in women and girls, but we also have solutions.”
The solutions include family and patient outreach efforts; communication to improve awareness; inclusion of general practitioners in the circle of care; and early screening, diagnosis, and treatment.
A bleeding disorders specialist who was not involved in the study said that Dr. D’Oiron’s report closely reflects what she sees in the clinic.
“I do pediatrics, and usually what happens is that I see a teenager with heavy menstrual bleeding and we take her history, and we find out that Mom and multiple female family members have had horrible menstrual bleeding, possibly many of whom have had hysterectomies for it, and then diagnosing the parents and other family members after diagnosing the girl that we’re seeing” said Veronica H. Flood, MD, from the Medical College of Wisconsin, Milwaukee.
“It is unfortunately a very real thing,” she added.
Reasons for the delay likely include lack of awareness of bleeding disorders.
“If you present to a hematologist, we think about bleeding disorders, but if you present to a primary care physician, they don’t always have that on their radar,” she said.
Additionally, a girl from a family with a history of heavy menstrual bleeding may just assume that what she is experiencing is “normal,” despite the serious affect it has on her quality of life, Dr. Flood said.
Dr. D’Oiron’s research is supported by her institution, the French Hemophilia Association, FranceCoag and Mhemon, the European Hemophilia Consortium, and the World Federation of Hemophilia. She reported advisory board or invited speaker activities for multiple companies. Dr. Flood reported having no conflicts of interest to disclose.
FROM EAHAD 2021