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20 yo with tendon xanthoma

2865 Views 4 Replies 4 Participants Last post by  Seetal
A 20-year-old man comes to the physician's office for a scheduled health maintenance examination. His father died of a myocardial infarction at age 55 years. Physical examination shows a tendon xanthoma on the elbow. His serum total cholesterol concentration is 360 mg/dL. A mutation is most likely to be found in which of the following genes?

(A) apoA2
(B) apoC2
(C) apoε4
(D) LDL receptor
(E) VLDL receptor
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The answer is most likely D. LDL receptor mutation causes development of atherosclerosis , xanthomas and arcus corneae.
yes, that's right all other mutations cause high triglyceride rather than high cholesterol or LDL :)

This is Hypercholestrolemia most likely IIa, and the most likely complication is Heart attacks which his dad died from. Plus extensor tendon xanthomas are only in cholesterol associated hyperlipidemias.
yes u're all ryte. the answer is D.:) thanks for the explanations!
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