Abstract

PROCHAZKA, Ricardo  and  TAGLE, Martín. Hemocromatosis Hereditaria: Reporte de caso clínico y revisión de la literatura. Rev. gastroenterol. Perú [online]. 2006, vol.26, n.3, pp.312-317. ISSN 1022-5129.

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 patientís diagnosis of hereditary hemachromatosis.

Keywords : hemochromatosis; aminotransferases; iron.

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