MILD LIVER-ENZYME ABNORMALITIES - ELIMINATING HEMOCHROMATOSIS AS CAUSE

Chronic mild liver enzyme abnormalities are attributable to hereditary hemochromatosis in at least 3% of cases. Hemochromatosis formerly was diagnosed late with diabetes and hepatic and cardiac failure. Only re cently have the autosomal recessive inheritance and subtle early prese ntations been understood. However, patients still wait many years and see many physicians before receiving a correct diagnosis. Increased se rum transferrin saturation is currently the best test for detection of those likely to accumulate iron. Serum ferritin identifies those requ iring treatment. When liver biopsy (controversial in asymptomatic indi viduals) is indicated, chemical measurement of liver iron content is h elpful and therapeutic phlebotomy is the only effective treatment. Cau casian-type hemochromatosis (prevalence of 0.005) is associated with g enetic abnormalities in HLA-H but also occurs in other ethnic groups. Those of African descent may have a different but also heritable iron- loading disease. Caucasian-type and to a lesser extent African iron lo ading are detectable early by laboratory testing. Early treatment rest ores normal expectations of length and quality of life in the Caucasia n disease. Long-term treatment data are not yet available in African i ron loading. Laboratory-initiated screening programs using unsaturated iron-binding capacity can eliminate symptomatic hemochromatosis.