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Biochemistry, cell biology, and genetics

Familial Dyslipidemias & Atherosclerosis | USMLE Step 1

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SAMPLE QUESTION

A 27-year-old man is evaluated after his father has a myocardial infarction at age 43. Examination shows firm, painless thickening of both Achilles tendons. His fasting LDL cholesterol is 328 mg/dL, HDL cholesterol is 48 mg/dL, and triglycerides are 110 mg/dL. Similar LDL elevations were documented when he was a teenager.

Which abnormality most likely accounts for his lipid profile?