A 50-year-old man with hemochromatosis (HFE gene: C282Y homozygous) has serum ferritin 2400 ng/mL and transferrin saturation 78%. Liver biopsy shows grade 3 hepatic iron deposition with early bridging fibrosis but no cirrhosis. What is the treatment of choice and the goal of therapy?
- A Desferrioxamine SC infusion; target ferritin <200 ng/mL
- B Dietary iron restriction and vitamin C avoidance; no phlebotomy required at this stage
- C Weekly therapeutic phlebotomy; target serum ferritin 20–50 ng/mL and transferrin saturation <30% ✓
- D Liver transplantation as primary therapy given fibrosis
Explanation
Hereditary hemochromatosis is treated by therapeutic phlebotomy (removal of 450–500 mL blood weekly or biweekly) until target serum ferritin of 20–50 ng/mL and transferrin saturation <30% are achieved, then maintenance phlebotomy 2–4 times yearly. Phlebotomy reverses hepatic fibrosis at the early-stage, improves liver enzymes, and reduces cardiovascular risk. Desferrioxamine is reserved for patients unable to tolerate phlebotomy (e.g., severe anemia, heart failure). Liver transplantation is for end-stage cirrhosis. Vitamin C should be avoided as it mobilizes storage iron and can precipitate cardiac arrhythmias.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
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