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Hemochromatosis

Hemochromatosis. Bryan Imayanagita 7/30/10. Background. Metabolic disorder Abnormal buildup of iron Hemosiderosis vs. hemochromatosis Primary vs. secondary. Pathophysiology . autosomal recessive disorder single site mutation, in the HFE gene Lower levels of hepcidin

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Hemochromatosis

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  1. Hemochromatosis Bryan Imayanagita 7/30/10

  2. Background • Metabolic disorder • Abnormal buildup of iron • Hemosiderosis vs. hemochromatosis • Primary vs. secondary

  3. Pathophysiology • autosomal recessive disorder • single site mutation, in the HFE gene • Lower levels of hepcidin • increased total body iron stores of up to 20-40 g, (normal: 1-3 g)

  4. Presentation • Liver cirrhosis with 30% of those having hepatocellular carcinoma • Diabetes • Cardiomyopathy • Tanning of the skin • arthritis • 40% of males develop pituitary hypogonadism

  5. Diagnosis • Usually escapes early detection • Blood tests • ferritin test and the transferring saturation • MRI preferred over CT

  6. Treatment • Bloodletting • Anemia can occur • deferoxamine

  7. Sources • http://emedicine.medscape.com/article/369012-overview • http://www.healthscout.com/ency/68/743/main.html

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