Hemochromatosis

Background

  • Accumulation of iron in the body
  • Most commonly due to hereditary hemochromatosis (HHC) or iron overload from transfusion
    • Hereditary hemochromatosis most common in people of Celtic ancestry
  • AKA "bronze diabetes"

Clinical Features

Abdomen enlargement caused by giant hepatomegaly occupying the entire abdomen in a patient with secondary hemochromatosis.

Differential Diagnosis

Hepatic Dysfunction

Infectious

Neoplastic

Metabolic

Biliary

  • Biliary cirrhosis

Drugs

Miscellaneous

Hyperglycemia

Evaluation

  • Serum ferritin:
    • >300 ng/mL in males and postmenopausal women
    • >150 - 200 ng/mL in premenopausal women
  • Transferrin saturation: >45-50% is suggestive of iron overload
  • Outpatient HFE genetic test to confirm diagnosis

Management

Disposition

See Also

External Links

References

  1. Tintanelli's