Home › MCQs › MBBS › Question #10357
Back to Questions
MBBS QUESTION #10357
Question 1
A patient with familial hypercholesterolemia develops markedly elevated LDL cholesterol and premature atherosclerosis due to a genetic defect involving:
  • The LDL receptor, impairing hepatic and peripheral cellular uptake and clearance of circulating LDL particles✔️
  • Lipoprotein lipase exclusively
  • HDL synthesis exclusively
  • Chylomicron assembly exclusively
Correct Answer Explanation
Mutations in the LDL receptor gene (or, less commonly, in apolipoprotein B or PCSK9) impair receptor-mediated hepatic clearance of LDL particles from plasma, causing markedly elevated LDL cholesterol from birth and a substantially increased risk of premature coronary artery disease, especially in homozygous individuals.