Detecting hereditary hemochromatosis.
Hereditary hemochromatosis is the most commonly inherited autosomal recessive disorder. Hemochromatosis is a current or potential progression of abnormally high accumulations of iron in the liver. If left untreated, the condition can lead to chronic or irreversible hepatic fibrosis, cirrhosis, hepatocellular carcinoma, arthritis, and organ failure. Common signs and symptoms seen in the primary care setting include fatigue, weakness, abdominal pain, palpitations, skin pigmentation changes, and arthropathy, but any symptom associated with organ damage may be reported. Because prompt intervention can cease or reverse the debilitating effects of iron overload, prompt disease diagnosis and treatments are imperative.
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D000465:Algorithms; D006432:Hemochromatosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008487:Medical History Taking; D010353:Patient Education as Topic; D018962:Phlebotomy; D015995:Prevalence; D014481:United States / Q000453:epidemiology