Inherited liver diseases in adults.
Important inherited disorders causing acute and chronic liver disease include hemochromatosis, Wilson's disease, alpha 1-antiprotease (antitrypsin) deficiency, and cystic fibrosis. The detection of an index case has implications for screening family members. A normal life span can be expected with treatment in asymptomatic patients with Wilson's disease and hemochromatosis. We present a clinical approach to disease recognition, investigation, and screening.
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency