[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)].
Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
Stremmel
W
W
Medizinische Klinik, Universität Heidelberg.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis* / Q000378:metabolism; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D010808:Physical Examination