Hemochromatosis is an iron overload syndrome causing iron deposits and consequent damage to various organs, including the liver, heart, pancreas, and pituitary gland.
Hemochromatosis is the third most common inherited disorder affecting caucasians, with cystic fibrosis and alpha 1-antitrypsin deficiency being more prevalent. The symptoms of hemochromatosis usually become evident in middle age; males are affected three times more often than females. Symptoms include weakness, malaise, loss of libido, weight loss, change in skin color, and abdominal or joint pain. Of those patients who develop symptoms, approximately 95% have hepatomegaly. Serum ferratin and iron levels are elevated. A liver biopsy is done to provide a histologic assessment of liver damage. Close relatives of the patient who develops hemochromatosis are also screened for the disease. Hepatocellular cancer develops in approximately 30% of symptomatic patients. The primary treatment is removal of excess iron from the body by phlebotomy.
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