Hemochromatosis and Heart Involvement

   Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron from food or drugs, liver diseases or repeated blood transfusions. Deposition of excess iron in parenchymal tissues leads to cellular dysfunction and clinical manifestations of the disease. The liver, pancreas, joints, skin, pituitary gland and heart are most often affected. Cardiac hemochromatosis is an important and potentially preventable cause of heart failure. Initially, diastolic dysfunction and arrhythmias develop, at later stages a picture of dilated cardiomyopathy can appear. Signs of heart damage in hemochromatosis can be detected using complex 2D and Doppler echocardiography, cardiac MRI with T2* relaxation time measurement and other diagnostic methods. Genetic testing is the gold standard for diagnosing hemochromatosis and should be performed after secondary causes of iron overload have been excluded. The basis of therapy is therapeutic phlebotomy and iron chelation. Median survival is less than a year in untreated patients with severe heart failure caused by hemochromatosis. However, with early and aggressive treatment, survival approaches that of patients with heart failure of other etiologies.

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