Hemochromatosis

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-overv
  iew
• http//www.healthscout.com/ency/68/743/main.html