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Hereditary hemochromatosis — ABIM Board MCQ

Instant feedback + full explanation. One question, done properly.

ModerateGastroenterology/HepatologyHereditary hemochromatosisABIM Board

A 52-year-old man has fatigue, arthralgia, diabetes, and elevated ALT. Transferrin saturation is 72 percent and ferritin is 980 ng/mL. Genetic testing shows C282Y homozygosity. Which of the following is the most likely cause?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Inappropriately increased intestinal iron absorption due to HFE mutation

Hereditary hemochromatosis from HFE mutation causes increased intestinal iron absorption and iron deposition in liver, pancreas, joints, heart, and pituitary. Phlebotomy is the main treatment when iron overload is confirmed.

Reference: AASLD Hemochromatosis Practice Guideline