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family history in liver diseases
#harrison #liver #medicine
family history can be helpful in assessing liver disease. Familial causes of liver disease include Wilson disease; hemochromatosis and α 1 antitrypsin deficiency; and the more uncommon inherited pedi- atric liver diseases—that is, familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, and Alagille syndrome. Onset of severe liver disease in childhood or adolescence in conjunction with a family history of liver disease or neuropsychiatric disturbance should lead to investigation for Wilson’s disease. A family history of cirrhosis, diabetes, or endocrine failure and the appearance of liver disease in adulthood suggests hemochromatosis and should prompt investiga- tion of iron status. Abnormal iron studies in adult patients warrant genotyping of the HFE gene for the C282Y and H63D mutations typical of genetic hemochromatosis. In children and adolescents with iron overload, other non-HFE causes of hemochromatosis should be sought. A family history of emphysema should lead to investigation of α 1 antit- rypsin levels and, if levels are low, for protease inhibitor (Pi) genotype
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  • owner: nerdparty67 - (no access) - HARRISON Principles of Internal Medicine 20th Edition.pdf, p2334
  • owner: Anonymouse - (no access) - @MBS_MedicalBooksStore_2018_Harrison's.pdf, p2380


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