A 58-year-old man with hereditary haemochromatosis (HFE gene C282Y homozygous) has serum ferritin 2800 ng/mL and transferrin saturation 82%. Liver biopsy shows hepatic iron index of 2.1 (normal <1.9), with fibrosis stage F2. The FIRST-LINE treatment is:

• A Desferrioxamine subcutaneous infusion
• B Deferasirox oral chelation therapy
• C Low-iron diet and abstinence from red meat only
• D Phlebotomy 450–500 mL weekly until ferritin reaches 50–100 ng/mL ✓

Explanation

Weekly therapeutic phlebotomy (450–500 mL, removing approximately 200–250 mg iron per session) until serum ferritin is reduced to 50–100 ng/mL is the standard first-line treatment for hereditary haemochromatosis with elevated iron stores. It improves prognosis significantly if fibrosis is not yet cirrhotic. Desferrioxamine and oral chelators (deferasirox) are reserved for patients with anaemia, heart disease, or inability to tolerate phlebotomy. Dietary restriction alone is insufficient to normalise iron stores.

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

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Written and medically reviewed by the StethoPrep medical team.