A 40-year-old man with hereditary hemochromatosis (HFE C282Y homozygous) undergoes liver biopsy due to elevated ferritin (2800 ng/mL). Biopsy shows hepatic iron concentration (HIC) 380 µmol/g dry weight and hepatic iron index (HII) 6.1, with mild fibrosis (F2). What is the target of phlebotomy therapy?

• A Serum ferritin <50 ng/mL
• B Transferrin saturation <45%
• C Serum ferritin <200 ng/mL with transferrin saturation <50%
• D Serum ferritin <200 ng/mL (men) and <150 ng/mL (women) ✓

Explanation

Per EASL 2022 hemochromatosis guidelines, the target of phlebotomy in hereditary hemochromatosis is serum ferritin <200 ng/mL in men and <150 ng/mL in women (ideally 50-100 ng/mL) with transferrin saturation monitored to avoid iron deficiency. Phlebotomy frequency is typically 500 mL blood (removing ~250 mg iron) weekly until target, then maintenance 2-4 times/year. Iron depletion can halt progression of fibrosis and even partially reverse early-stage fibrosis. HII (hepatic iron index = HIC/age) >2 is diagnostic for C282Y homozygosity.

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

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Written and medically reviewed by the StethoPrep medical team.