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.

• 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

Hepatic Dysfunction

Infectious

• Hepatitis
  • Viral hepatitis
• Malaria
• HIV (present in 50% of AIDS patients)
• EBV
• Babesiosis, leptospirosis
• Typhoid
• Hepatic abscess, amebiasis

Neoplastic

• Metastases
• Hepatocellular carcinoma
• Multiple myeloma
• Leukemia
• Lymphoma
• Myeloproliferative disorders

Metabolic

• Hemochromatosis
• Wilson's disease
• Non-alcoholic steatohepatitis
• Inborn errors of metabolism

Biliary

• Biliary cirrhosis

Drugs

• Alcoholic cirrhosis
• Alcoholic hepatitis
• Hepatotoxic drugs

Miscellaneous

• Other causes of cirrhosis
• Autoimmune hepatitis
• Veno-occlusive disease
• CHF (right heart failure)

Hyperglycemia

• Physiologic stress response (rarely causes glucose >200 mg/dL)
• Diabetes mellitus (main)
  • Nonketotic hyperglycemia
  • Hyperosmolar hyperglycemic state (HHS/HONC)
  • Diabetic ketoacidosis (adult)
  • Diabetic ketoacidosis (peds)
    • Cerebral edema in DKA
  • Diabetic foot infection
  • Diabetic peripheral neuropathy
• Hemochromatosis
• Iron toxicity
• Sepsis

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

• Phlebotomy
• Chelation with deferoxamine

See Also

• Iron toxicity