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Hereditary hemochromatosis — ABIM Board MCQ

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HardGastroenterology/HepatologyHereditary hemochromatosisABIM Board

A 46-year-old man is evaluated for fatigue, arthralgia of the second and third metacarpophalangeal joints, and mildly elevated aminotransferase levels. Repeat testing shows a ferritin level of 920 ng/mL and transferrin saturation of 68%. HFE testing demonstrates C282Y homozygosity, and MRI confirms increased hepatic iron concentration. Transient elastography shows no advanced fibrosis. Hemoglobin is 15.2 g/dL, and he has no heart failure or other contraindication to blood removal. Which of the following is the most appropriate next step in management?

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Correct answer: A — Begin serial therapeutic phlebotomy with hemoglobin and ferritin monitoring

The correct answer is A. This patient has HFE-related hereditary hemochromatosis with biochemical and MRI-confirmed iron overload and adequate hemoglobin. First-line treatment is serial therapeutic phlebotomy, generally performed weekly during induction with hemoglobin monitoring until ferritin is approximately 50–100 ng/mL, followed by individualized maintenance therapy. Deferasirox is not first-line and is reserved for patients unable to tolerate phlebotomy, such as those with significant anemia or heart failure. Observation is inappropriate because clinically relevant iron overload is already established. Liver biopsy is unnecessary solely to confirm iron overload in a C282Y homozygote with supportive laboratory and MRI findings and no evidence of advanced fibrosis. Hepatocellular carcinoma surveillance is indicated for advanced fibrosis or cirrhosis and does not replace iron depletion.

Reference: Walter K. What Is Hereditary Hemochromatosis? JAMA. 2022;328(18):1879. Treatment and Lifestyle Modifications for Patients With HH. https://jamanetwork.com/journals/jama/fullarticle/2798168