[Refractory heart failure in a 26-year-old woman with idiopathic hemochromatosis]

Rev Port Cardiol. 1994 Oct;13(10):771-5; 736-7.
[Article in Portuguese]


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.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Heart Failure / diagnosis
  • Heart Failure / etiology*
  • Heart Failure / pathology
  • Hemochromatosis / complications*
  • Hemochromatosis / diagnosis
  • Hemochromatosis / pathology
  • Humans