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  increased total body iron stores of up to 20-40 g, (normal: 1-3 g)

Presentation

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

Diagnosis

 Usually escapes early detection  Blood tests  ferritin test and the transferring saturation  MRI preferred over CT

Treatment

 Bloodletting  Anemia can occur  deferoxamine

Sources

 http://emedicine.medscape.com/article/369012 -overview  http://www.healthscout.com/ency/68/743/mai n.html