Revisão das manifestações da hemocromatose A propósito de um caso clínico com 25 anos de evolução

R. Pinho, S. Fernandes, S. Leite, J. Pinto, M. Afonso, A. P. Silva, L. Alberto, J. Fraga (1)

 

 

Resumo

A Hemocromatose Hereditária (HH) é a doença familiar mais frequente nos descendentes do norte da Europa da raça caucasiana caracterizada por sobrecarga de ferro predominantemente no fígado, mas também noutros órgãos, causando a sua disfunção. Tem manifestações clínicas tão variadas como a cirrose hepática, a diabetes mellitus, a tonalidade bronzeada da pele, a artropatia e a disfunção do miocárdio. Os autores apresentam o caso de um doente com HH, com particular relevo para as várias manifestações clínicas que surgem durante a evolução da  doença e fazem a sua discussão. Apontam os principais factores limitadores do prognóstico e da qualidade de vida. Destacam o longo tempo de  evolução, dado que o doente se apresentou com cirrose há 25 anos, que atribuem à abstinência alcoólica e ao tratamento intensivo com flebotomias. Reforçam a importância do diagnóstico precoce.

 

 

Summary

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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(1)Serviço de Gastrenterologia e Hepatologia – Centro Hospitalar de Vila Nova de Gaia, Vila Nova de Gaia, Portugal

Correspondência:

Rolando Taveira Pinho

Serviço de Gastrenterologia e Hepatologia - Centro Hospital de Vila Nova de Gaia

Rua Conceição Fernandes

4434-502 – Vila Nova de Gaia - Portugal

E-mail: rolandopinho@portugalmail.pt

 

Recebido para publicação: 25/09/2007

Aceite para publicação: 30/07/2008