Cassia Pereira Kessler Iglesias et al. Paulo Vinicios Falcão Duarte Jacqueline Sampaio dos Santos Miranda Luana da Graça Machado Caio Ribeiro Alves Andrade
Introduction
GCW, age 33, presents acute heart failure (HF), amenorrhea and darkening of the skin. Three months after this initial situation, the patient is referred to a large cardiology centre and is submitted to HF screening, and the suspicion of hemochromatosis is promptly raised. This disease affects the heart in only 15% of cases. It has been shown that early recognition and intervention may change the prognosis. This is a diagnosis that should be considered in all cases of HF screening since it is easy to diagnose and its treatment can drastically change the prognosis of the disease.
Hereditary hemochromatosis (HH) is a genetic disease of iron metabolism characterized by increased intestinal absorption and progressive accumulation of it in different organs. HH is the most common autosomal disease in Caucasians, particularly those with Nordic or Celtic ancestors, affecting one in each 220-250 individuals. According to the mutations found, HH can be classified as: Hemochromatosis associated with HFE (classical hemochromatosis) and hemochromatosis not associated with HFE: Hereditary hemochromatosis due to mutation at the receptor 2 of transferrin-TfR2, juvenile hemochromatosis (hemojuvelin mutation – HJV gene and hepcidin mutation – HAMP gene), ferroportin disease and African iron overload. The vast majority (80-85%) of HH cases that have northern European ancestors are associated with HFE, while 10-15% of HH cases are not associated with HFE.
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