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Hemochromatosis is a disorder associated with deposits
of excess iron that causes multiple organ dysfunction. Hemochromatosis has been
called “bronze diabetes” due to the discoloration of the skin and associated
disease of the pancreas. Hereditary hemochromatosis is the most common
autosomal recessive disorder in whites. Secondary hemochromatosis occurs
because of erythropoiesis disorders and treatment of the diseases with blood
transfusions.
A common initial presentation is an asymptomatic
patient with mildly elevated liver enzymes who is subsequently found to have
elevated serum ferritin and transferrin saturation. Ferritin levels greater
than 300 ng per mL for men and 200 ng per mL for women and transferrin
saturations greater than 45% are highly suggestive of hereditary
hemochromatosis.
Phlebotomy is the mainstay of treatment and can help
improve heart function, reduce abnormal skin pigmentation, and lessen the risk
of liver complications. Liver transplantation may be considered in select
patients. Individuals with hereditary hemochromatosis have an increased risk of
hepatocellular carcinoma and colorectal and breast cancers. Genetic testing for
the hereditary hemochromatosis genes should be offered after 18 years of age to
first-degree relatives of patients with the condition.
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