Diagnosis and Management of Hemochromatosis

Abstract

Hereditary hemochromatosis is an autosomal recessive genetic disease which results from intestinal absorption of iron in excess of bodily requirements. The excessive iron is deposited and stored in organs such as the liver, heart, endocrine glands, pancreas, joints, and skin. This results in damage and possible failure of these organs leading to premature death. Unfortunately, this disease is often misdiagnosed and may go untreated for years. Screening tests for this disease are serum transferrin saturation and serum ferritin. Liver biopsy will diagnose the disease, though often not needed due to the high reliability of the laboratory tests. Treatment depends upon disease progression. In mild cases, phlebotomy programs with laboratory monitoring are initiated. In more severe cases, phlebotomy programs with close laboratory and abdominal ultrasound monitoring are completed. Secondary diseases from organ damage may also need to be treated. It is important that all of the possible problems associated with the disease be explained and the importance of the treatment be stressed.