Killed by the Iron Giant A Case of Fatal Hemochromatosis in a 33-Year-Old Woman

摘要

We report an unusual case of a 33-year-old woman who died from severe cardiomyopathy. Analysis of cardiac tissue revealed massive myocyte iron overload consistent with hemochromatosis, and genetic studies showed the presence of the C282Y mutation. The patient was previously healthy except for longstanding secondary amenorrhea. Lack of monthly menstrual blood loss may have contributed to the development of more severe, early iron overload in this patient and may have been related to pituitary iron overload resulting in hypogonadotropic hypogonadism. A careful menstrual history should be taken in all women and reproductive irregularities carefully investigated.