[Refractory heart failure in a 26-year-old woman with idiopathic hemochromatosis].
Idiopathic hemochromatosis, the most frequent inherited disease in Caucasians, is frequently undiagnosed. In this disorder, characterized by a continued inappropriated absorption of dietary iron, the clinical manifestations result from damage to those organ systems in which iron has been pathologically deposited, namely, the heart and the liver. Typically, hemochromatosis becomes clinically manifest in later life and in men more frequently than in women. This has been attributed to the extra loss of iron in women through menstruation and pregnancies. Removal of the excess iron by phlebotomy will prevent all of the complications of hemochromatosis of when begun early. In this paper, we report a case of a young woman with a eight years evolution of amenorrhea, cardiac failure, diabetes mellitus and increased pigmentation of the skin, associated with biochemical markers of iron overload. It is emphasized that hemochromatosis most be excluded in all patients with a unexplained cardiac failure.
Serviço de Medicina-2, Hospital de S. João, Porto.
A
A
Oliveira e Silva
L
L
Maciel
E
E
Fernandes
R
R
Pina
O
O
Candeias
F
F
de Freitas
D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006333:Heart Failure / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans
Insuficiência cardíaca refractária numa mulher de 26 anos com hemocromatose idiopática.