title: [Hereditary hemochromatosis: the most frequent inherited human disease].
abstract: Hereditary hemochromatosis is now recognized as a very common inherited disease of the Caucasian population. It is defined as a disorder of unique clinicopathology caused by mutations of genes that control iron metabolism. Inappropriately increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress in tissues. This results in significant cellular damage, induction of inflammation, and fibrosis. Liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiac insufficiency are diagnosed in the advanced phase of this disease. The natural course is modified by environmental factors and personal predisposition. Three forms of hemochromatosis with the pathophysiology of iron overload are described. Among them the classical form, juvenile hemochromatosis with severe course and circulatory insufficiency, and ferroportin disease are presented. Properly directed diagnostics makes early treatment protecting against disease progression and multiorgan insufficiency possible.
authors.affiliation: Klinika Chorób Zakaźnych Akademii Medycznej w Gdańsku.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sikorska
authors.forename: Krzysztof Piotr
authors.initials: KP
authors.lastname: Bielawski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Romanowski
authors.forename: Piotr
authors.initials: P
authors.lastname: Stalke
mesh_terms: D002877:Chromosomes, Human / Q000235:genetics; D005192:Family Health; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics; D044465:White People / Q000235:genetics*
chemical_list: D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron