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Revista Uruguaya de Medicina Interna

versión impresa ISSN 2393-6797versión On-line ISSN 2393-6797

Resumen

BRIN, Mariana; SPIESS, Julio; VALVERDE, Marcelo  y  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.  http://dx.doi.org/10.26445/04.01.2.

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.

Palabras clave : hereditary hemochromatosis; iron overload; C282Y..

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