Hereditary Liver Diseases: Wilson's Disease and Hemochromatosis

Abstract

Wilson's disease and HFE-hemochromatosis are autosomal-recessively inherited metabolic diseases of the liver. Copper overload in case of Wilson's disease and iron overload in case of hemochromatosis lead to organ damage of the liver and other organs. In order to diagnose these diseases at an early stage and introduce therapy, knowledge of the symptoms and diagnostic criteria of these diseases is important. Iron overload in hemochromatosis patients is treated with phlebotomies and copper overload in Wilson's disease patients with either chelating medications (D-penicillamine or trientine) or zinc salts. After introduction of lifelong therapy both diseases typically have a favorable disease course and further development of organ-damage can be prevented, especially with respect to liver-damage.