Hereditary Hemochromatosis
Hemochomatosis is a genetic disease most commonly found in individuals of European origin. It is a result of an over-abundance of iron in the body. Patients with hemochromatosis have an increased amount of iron absorbed from their intestine. This results in an intensified concentration of iron in the cells of the liver, pancreas, heart, and other organs. Over time, this can result in functional impairment of these organs (liver failure and heart failure). Because of the lengthy duration necessary to produce organ damage, the onset of this clinical disease (symptoms) is usually delayed until age 40-60. These patients will have enlargement of the liver, skin pigmentation (slate-gray), weakness, lethargy, chronic abdominal pain, diabetes, joint pain, loss of libido, and impotence. The latest findings include cirrhosis and liver cancer (hepatoma) in a small percentage of patients. Diagnosis is established through blood testing (serum transferrin) and blood iron determination. Eventually, a liver biopsy is required to confirm the diagnosis.
Treatment involves the periodic (weekly) removal of blood (phlebotomy) from the body. This, in effect, decreases the iron in the body responsible for the problem. Only 18% of people diagnosed with hemochromatosis will survive 5 or more years [after the onset of symptoms] if they are not treated.
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