A 35-year-old man presents to the cardiology clinic with a history of myocardial infarction at age 32. On examination, he has prominent xanthomas on his Achilles tendons and extensor tendons of the hands, and corneal arcus. His fasting lipid profile shows total cholesterol 520 mg/dL, LDL-C 420 mg/dL, and triglycerides 140 mg/dL. His father had an MI at age 48, and his 8-year-old son has been found to have elevated LDL-C on screening. The condition marked **B** in the diagram is suspected. Which of the following best describes the primary molecular defect in this patient's condition?
Ready to test yourself?
Test your Medicine knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Familial Hypercholesterolemia MCQs with AI-powered explanations tailored to your performance.
Create Free Account