Definition and symptoms
Hemochromatosis is a genetic liver disease caused by the inappropriate accumulation of too much iron in the bloodstream. The excess iron is stored in the liver and, over time, can lead to liver failure. Symptoms usually arise in middle adulthood and include yellowing of the skin or eyes, fatigue, swelling of the legs, and confusion.
Risk factors and diagnostics
Risk factors
Patients with hemochromatosis may have a family member who also has the disease or is a carrier of the defective gene.
Diagnostics
Diagnostic work up includes blood work including iron studies, abdominal ultrasounds or radiologic imaging, and liver biopsy.
Treatment
Treatment includes removal of iron from the blood stream with routine blood draws. If caught early, iron levels can stabilize with treatment and prevent liver failure.
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