SciELO - Scientific Electronic Library Online

vol.4 número1Experiência emocional percebida por pacientes submetidos à craniotomia com despertar intraoperatório. índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados



Links relacionados


Revista Uruguaya de Medicina Interna

versão impressa ISSN 2393-6797versão On-line ISSN 2393-6797


BRIN, Mariana; SPIESS, Julio; VALVERDE, Marcelo  e  LLAMBI, Laura. Hereditary hemochromatosis: debut as compensated cirrhosis of incidental diagnosis. Report of a case and review of the topic. Rev. Urug. Med. Int. [online]. 2019, vol.4, n.1, pp.40-48. ISSN 2393-6797.

Hereditary Hemochromatosis (HH) is defined by tissue accumulation of iron, predominantly in theliver, pancreas and myocardium, being one of the forms of iron overload of congenital cause. The diagnosis of HH in adulthood is rare in our environment and must be taken into account in the presence of chronic liver disease of uncertain etiology. In this article we present a clinical case of an alcoholic patient who debuted clinically with a digestive bleeding, context in which the diagnosis of cirrhosis was established. Given the family history of chronic liver disease of uncertain etiology, the recent diagnosis of diabetes, and the finding of a profile of iron overload, despite problematic alcohol consumption, studies were requested to confirm the HH approach. The genetic study in search of homozygosis of the C282Y allele for the HFE gene was positive. Serial phlebotomies were started with favourable evolution at follow-up. The clinical case is presented, and a review of the literature is made.

Palavras-chave : hereditary hemochromatosis; iron overload; C282Y..

        · resumo em Português | Espanhol     · texto em Espanhol     · Espanhol ( pdf )