Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus. Disease data Klasyfikacja Disease Synonimy Symptomatic form of HFE-related hereditary hemochromatosis Objawowa postać hemochromatozy dziedzicznej związanej z HFE Objawowa postać hemochromatozy klasycznej Symptomatic form of classic hemochromatosis Objawowa postać hemochromatozy związanej z HFE Kod ORPHA 465508 Kod OMIM 235200 Kod ICD10 E83.1 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl