Hereditary hemochromatosis.

Introduction. - Hereditary hemochromatosis is a fairly common disease in th e Caucasian population, with a prevalence estimated at between 1.5 to 3/1,0 00 inhabitants. Over the past few years, its symptomatology has altered at present, ifs clinical aspect with diabetes mellitus, cirrhosis, and darker skin pigmentation only constitutes 10% of new cases of this disease. Current knowledge and key points. - In 1996, the discovery of the C282Y mut ation in the HFE gene radically altered the diagnostic approach to heredita ry hemochromatosis. At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficie nt is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer n ecessary to establish the diagnosis, but this is still useful in cases of p ossible cirrhosis, which is the main risk factor for hepatocellular carcino ma. Phlebotomy remains the sole recommended treatment, and should be undert aken in a case-specific manner. Family screening should be carried out for all first-degree relatives for every new case that is diagnosed. Future prospects and projects. - The discovery of the HFE gene has permitte d hereditary hemochromatosis to be easily differentiated from other forms o f hepatic iron overload including a new syndrome, dysmetabolic hepatosidero sis. Cases of homozygotic C282Y without hepatic iron overload have been des cribed, but the clinical outcome of some of these cases requires further st udy, and adds to the controversy on whether systematic population screening should be made available. (C) 2000 Editions scientifiques et medicales Els evier SAS.