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Q2: Answer: E
This patient has elevated transaminases with normal alkaline phosphatase and total bilirubin levels. His AST is greater than his ALT. He does not meet criteria for having nonalcolholic steatohepatitis because of his history of drinking at least five drinks per day. Additionally, his AST:ALT ratio would be atypical for classic NASH presentation. This patient does not have chronic hepatitis B as his serologies reveal that he is hepatitis B immune. This patient’s labs are not suggestive of iron overload with a normal serum ferritin and normal iron saturation. Although this patient has emphysema diagnosed at a young age and an undetectable alpha-1-antitrypsin level, this patient’s liver enzyme elevations are not due to alpha-1-antitrypsin deficiency. Alpha-1-antitrypsin is a glycoprotein that functions as a serine protease inhibitor and is produced predominantly in hepatocytes and then secreted from the cell.
In alpha-1-antitrypsin mutations that affect the liver (most commonly the ZZ phenotype), there is an amino acid substitution that results in the production of an abnormal alpha-1-antitrypsin molecule that polymerizes within the hepatocyte preventing secretion from the cell and resulting in abnormal accumulation of the alpha-1-antitrypsin in hepatocytes with resulting hepatic damage over time. This patient, however, has the alpha-1-antitrypsin phenotype null/null, which results in the absence of alpha-1-antitrypsin production. As such, null/null individuals are at very high risk for emphysema due to the complete absence of the alpha-1-antitrypsin enzyme. However, since null/null individuals produce no alpha-1-antitrypsin at all, there is no abnormally polymerized alpha-1-antitrypsin protein build-up. Based upon the clinical history and laboratory data, this patient’s liver enzyme elevations are most likely due to alcohol abuse.
References
1. Fairbanks K.D., Tavill A.S. Liver disease in alpha-1-antitrypsin deficiency: A review. Am J Gastro. 2008;103:2136-41.
2. Silverman E.A., Sandhaus R.A. Alpha-1 antitrypsin deficiency. N Engl J Med. 2009;360;2749-5.
Q2: Answer: E
This patient has elevated transaminases with normal alkaline phosphatase and total bilirubin levels. His AST is greater than his ALT. He does not meet criteria for having nonalcolholic steatohepatitis because of his history of drinking at least five drinks per day. Additionally, his AST:ALT ratio would be atypical for classic NASH presentation. This patient does not have chronic hepatitis B as his serologies reveal that he is hepatitis B immune. This patient’s labs are not suggestive of iron overload with a normal serum ferritin and normal iron saturation. Although this patient has emphysema diagnosed at a young age and an undetectable alpha-1-antitrypsin level, this patient’s liver enzyme elevations are not due to alpha-1-antitrypsin deficiency. Alpha-1-antitrypsin is a glycoprotein that functions as a serine protease inhibitor and is produced predominantly in hepatocytes and then secreted from the cell.
In alpha-1-antitrypsin mutations that affect the liver (most commonly the ZZ phenotype), there is an amino acid substitution that results in the production of an abnormal alpha-1-antitrypsin molecule that polymerizes within the hepatocyte preventing secretion from the cell and resulting in abnormal accumulation of the alpha-1-antitrypsin in hepatocytes with resulting hepatic damage over time. This patient, however, has the alpha-1-antitrypsin phenotype null/null, which results in the absence of alpha-1-antitrypsin production. As such, null/null individuals are at very high risk for emphysema due to the complete absence of the alpha-1-antitrypsin enzyme. However, since null/null individuals produce no alpha-1-antitrypsin at all, there is no abnormally polymerized alpha-1-antitrypsin protein build-up. Based upon the clinical history and laboratory data, this patient’s liver enzyme elevations are most likely due to alcohol abuse.
References
1. Fairbanks K.D., Tavill A.S. Liver disease in alpha-1-antitrypsin deficiency: A review. Am J Gastro. 2008;103:2136-41.
2. Silverman E.A., Sandhaus R.A. Alpha-1 antitrypsin deficiency. N Engl J Med. 2009;360;2749-5.
Q2: Answer: E
This patient has elevated transaminases with normal alkaline phosphatase and total bilirubin levels. His AST is greater than his ALT. He does not meet criteria for having nonalcolholic steatohepatitis because of his history of drinking at least five drinks per day. Additionally, his AST:ALT ratio would be atypical for classic NASH presentation. This patient does not have chronic hepatitis B as his serologies reveal that he is hepatitis B immune. This patient’s labs are not suggestive of iron overload with a normal serum ferritin and normal iron saturation. Although this patient has emphysema diagnosed at a young age and an undetectable alpha-1-antitrypsin level, this patient’s liver enzyme elevations are not due to alpha-1-antitrypsin deficiency. Alpha-1-antitrypsin is a glycoprotein that functions as a serine protease inhibitor and is produced predominantly in hepatocytes and then secreted from the cell.
In alpha-1-antitrypsin mutations that affect the liver (most commonly the ZZ phenotype), there is an amino acid substitution that results in the production of an abnormal alpha-1-antitrypsin molecule that polymerizes within the hepatocyte preventing secretion from the cell and resulting in abnormal accumulation of the alpha-1-antitrypsin in hepatocytes with resulting hepatic damage over time. This patient, however, has the alpha-1-antitrypsin phenotype null/null, which results in the absence of alpha-1-antitrypsin production. As such, null/null individuals are at very high risk for emphysema due to the complete absence of the alpha-1-antitrypsin enzyme. However, since null/null individuals produce no alpha-1-antitrypsin at all, there is no abnormally polymerized alpha-1-antitrypsin protein build-up. Based upon the clinical history and laboratory data, this patient’s liver enzyme elevations are most likely due to alcohol abuse.
References
1. Fairbanks K.D., Tavill A.S. Liver disease in alpha-1-antitrypsin deficiency: A review. Am J Gastro. 2008;103:2136-41.
2. Silverman E.A., Sandhaus R.A. Alpha-1 antitrypsin deficiency. N Engl J Med. 2009;360;2749-5.
Q2. A 38-year-old man presents for evaluation of elevated liver enzymes. His past medical history is notable for being diagnosed with emphysema when he was 32 years old. He continues to smoke ½ pack of cigarettes per day and he drinks approximately five beers per day with binge drinking on weekends. He denies a history of drug use. His laboratory data are notable for the following: aspartate aminotransferase, 139 U/L; alanine aminotransferase, 76 U/L; total bilirubin, 0.8 mg/dL; alkaline phosphatase, 104 U/L; and serum albumin, 4.1 g/dL. Additional laboratory testing showed the following: HCV Ab, negative; HBsAg, negative; HBsAb, positive; HBc Total Ab, positive; alpha-1 antitrypsin phenotype, null/null; alpha-1 antitrypsin level, undetectable; antismooth muscle antibody, negative; antinuclear antibody, negative; ferritin, 114 mcg/L; iron saturation, 37%.
Hepatic ultrasound reveals an enlarged echogenic liver with patent portal and hepatic veins.