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

  • Cirrhosis
  • Diabetes due to iron deposition in pancreatic beta cells
  • Cardiomyopathy
  • Arthritis: knuckles of the second and third fingers most common
  • Bronzing of the skin

Differential Diagnosis

Hyperglycemia

Evaluation

  • Serum ferritin:
    • >300 ng/mL in males and postmenopausal women
    • >150 - 200 ng/mL in premenopausal women

Management

References

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