Medicine · Liver Disease (Cirrhosis, Hepatitis, Autoimmune, Wilson's, Hemochromatosis)

A 45-year-old man with haemochromatosis (C282Y homozygous) is confirmed on liver biopsy. Serum ferritin is 1800 μg/L and liver iron concentration is markedly elevated. The GOLD STANDARD treatment to reduce iron overload is:

  • A Therapeutic phlebotomy (venesection) weekly until ferritin <50 μg/L
  • B Deferoxamine subcutaneous infusion
  • C Deferasirox oral chelation
  • D Dietary restriction of iron and vitamin C
Correct answer: A. Therapeutic phlebotomy (venesection) weekly until ferritin <50 μg/L

Explanation

Therapeutic phlebotomy (venesection) is the gold standard and first-line treatment for hereditary haemochromatosis. Weekly removal of 500 mL blood (approximately 250 mg iron) continues until serum ferritin falls below 50 μg/L and transferrin saturation is normal, after which maintenance phlebotomy 3–4 times per year is continued. Chelation therapy is reserved for patients with anaemia or other contraindications to phlebotomy. Dietary restriction alone is insufficient.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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