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Familial hypercholesterolemia — ABIM Board MCQ

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EasyCardiovascularFamilial hypercholesterolemiaABIM Board

A 49-year-old man is not taking lipid-lowering medication. His LDL cholesterol levels are 232 mg/dL and 228 mg/dL on separate measurements. His father had a myocardial infarction at age 46 years. He has no diabetes, and his 10-year PREVENT-ASCVD risk estimate is 6%. Examination shows Achilles tendon xanthomas. Which of the following is the most appropriate next step?

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Correct answer: A — High-intensity statin therapy with evaluation for familial hypercholesterolemia

The correct answer is A. Untreated LDL cholesterol of at least 190 mg/dL is severe primary hypercholesterolemia and warrants high-intensity statin therapy independent of a calculated 10-year risk estimate. Tendon xanthomas and a first-degree relative with premature myocardial infarction strongly suggest familial hypercholesterolemia; evaluation also facilitates identification and screening of affected relatives. Lifestyle modification is important but is not sufficient alone. Moderate-intensity statin therapy is less appropriate when high-intensity therapy is tolerated. Coronary artery calcium scoring can help with selected risk-based primary-prevention decisions, but it should not delay treatment when LDL cholesterol is this high and familial hypercholesterolemia is suspected. Niacin monotherapy is not first-line LDL-lowering treatment.

Reference: Grundy SM, Stone NJ, Bailey AL, et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol, severe primary hypercholesterolemia recommendation. 2018. https://professional.heart.org/en/science-news/2018-guideline-on-the-management-of-blood-cholesterol/top-things-to-know