Iron Overload Cardiomyopathy due to Non-Classical Hereditary Hemochromatosis

Abstract

Hemochromatosis is defined as abnormal deposition of iron in body organs which can cause organ dysfunction. The most commonly affected organs are the liver, heart, endocrine glands, pancreas, joints and skin with manifestations of cirrhosis, cardiomyopathy, hypogonadism, endocrinopathies, diabetes mellitus, arthropathy, skin pigmentation, and increased risk of liver cancer in cirrhotic patients. The disease severity ranges from asymptomatic tissue damage with simple biochemical abnormalities detected incidentally to serious life-threatening disease that usually affects young people. Excessive iron accumulation in the body usually takes place either by genetic mutations causing increased gastrointestinal iron absorption (hemochromatosis) or secondary to excessive administration of exogenous iron by red blood cell transfusions or dietary sources (hemosiderosis). Cardiac hemochromatosis or primary iron-overload cardiomyopathy is recognized as the presence of systolic or diastolic cardiac dysfunction secondary to increased deposition of iron in the heart in the absence of other concomitant processes. Although heart failure secondary to iron overload could be lethal, it is potentially a preventable and a treatable disease when diagnosed and treated early in its course.




J Med Cases. 2019;10(2):58-61
doi: https://doi.org/10.14740/jmc3240