Zu viel Eisen – State of the Art: EASL Clinical Practice Guidelines zur Hämochromatose

The European Association for the Study of the Liver (EASL) has published new Clinical Practice Guidelines for hemochromatosis. Hemochromatosis is a genetic disorder where a deficiency of the iron-regulating hormone hepcidin leads to increased iron export from cells and enhanced intestinal iron absorption. This results in elevated transferrin saturation and the formation of toxic nontransferrin-bound iron, which can damage tissues. A key update in the guidelines is the revised definition, emphasizing that while hemochromatosis is indeed a genetic disorder, it is defined by the presence of a clinical phenotype with increased transferrin saturation and liver iron overload. The prevalence of hemochromatosis varies in central Europe due to the distribution of HFE gene mutations (p.C282Y, p.H63D). Penetrance increases with age, with men being affected more often. For individuals showing biochemical signs of iron overload, the diagnosis requires genetic testing. Therapy involves regular bloodletting to maintain ferritin levels below 100 µg/L. An assessment of hepatic and extrahepatic manifestations is recommended for all hemochromatosis patients, including liver stiffness measurement, hepatocellular carcinoma (HCC) screening, and evaluation of joint, endocrine, cardiac, and sexual dysfunctions.