[Hereditary hemachromatosis: clinical case report and literature review].
Hemachromatosis is a hereditary condition, producing progressive iron overload as a result of the mutation in proteins that regulate intestinal iron absorption. It is a systemic disease with several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease and a proportion of asymptomatic patients. When it is diagnosed and treatment with phlebotomies is initiated before any organ damage is developed, the prognosis is very good, with normal survival free of manifestations. This condition is common in European populations. We report the case of a Peruvian patient of European ancestry who is asymptomatic, but has high levels of aminotransferases and elevated iron markers. Genetic testing confirmed the patient's diagnosis of hereditary hemachromatosis.
Prochazka
Ricardo
R
Servicio de Gastroenterologia, Hospital Nacional Cayetano Heredia, Universidad Peruana Cayetano Heredia, Lima, Perú.
Tagle
Martín
M
D000328:Adult; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007501:Iron / Q000097:blood; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D018962:Phlebotomy; D016896:Treatment Outcome
D007501:Iron