A patient with multiple tendon xanthomas is found to have a serum cholesterol level of 398 mg/dL and an LDL level of 220 mg/dL. What is the most likely defect?

Options

1. Lipoprotein lipase deficiency
2. LDL receptor defect
3. Defective Apo B-100
4. PCSK9 gain-of-function mutation

Correct Answer

LDL receptor defect

Explanation

Familial hypercholesterolemia is most commonly caused by LDL receptor defects, leading to impaired clearance of LDL cholesterol. This results in markedly elevated serum cholesterol and LDL levels, along with tendon xanthomas.

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