Abstract

PINHO, R. et al. Revisão das manifestações da hemocromatose A propósito de um caso clínico com 25 anos de evolução. J Port Gastrenterol. [online]. 2008, vol.15, n.4, pp.161-167. ISSN 0872-8178.

Hereditary hemochromatosis (HH) is a common genetic disease in Caucasians, characterized by iron overload and resulting in damage of the liver and other organs. It has protean manifestations ranging from liver cirrhosis to diabetes mellitus, skin pigmentation, arthropathy and cardiac disease. The authors report the case of an HH patient focusing the discussion on the several clinical features arising along the years. The main factors limiting prognosis and patient wellbeing are identified. The long evolution of the disease is emphasised, since the patient presented with liver cirrhosis 25 years ago, this long survival is probably due to alcohol abstention and intensive phlebotomies. The relevance of early diagnosis is underlined.

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