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Hereditary hemochromatosis — USMLE Step 3 MCQ

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ModerateInternal Medicine (chronic management)Hereditary hemochromatosisUSMLE Step 3

A 55-year-old man has fatigue and arthralgia. Laboratory studies show AST 88 U/L, ALT 94 U/L, fasting transferrin saturation 72%, and ferritin 870 ng/mL. He has hyperpigmented skin and new diabetes. Which of the following is the most likely diagnosis?

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Correct answer: DHereditary hemochromatosis

Elevated transferrin saturation with high ferritin, liver enzyme elevation, diabetes, arthralgia, and hyperpigmentation suggest hereditary hemochromatosis.

Reference: AASLD hemochromatosis guidance