Definition of Hemochromatosis

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Hemochromatosis: An inherited disorder characterized by abnormally high absorption of iron by the intestinal tract, resulting in excessive storage of iron, particularly in the liver, skin, pancreas, heart, joints, and testes. Common early symptoms include abdominal pain, weakness, lethargy, and weight loss. The onset of symptoms is usually between 30 to 50 years of age in males and after menopause in females. The excess iron gives the skin a bronze color and damages the liver, causing liver scarring (fibrosis) or cirrhosis, usually after age 40. Diabetes also occurs due to damage to the pancreas. Other findings include congestive heart failure or arrhythmias, arthritis, and hypogonadism. Treatment is removal of excess iron by periodic phlebotomy (removal of blood) to deplete the body iron. Early diagnosis and treatment before symptoms develop prevents all the complications of the disease. Hemochromatosis is inherited in an autosomal recessive manner. Also known as bronze diabetes and hereditary hemochromatosis.

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