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Old 04-23-2010
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Default 20 yo with tendon xanthoma

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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  #2  
Old 04-23-2010
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The answer is most likely D. LDL receptor mutation causes development of atherosclerosis , xanthomas and arcus corneae.
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Old 04-23-2010
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yes, that's right all other mutations cause high triglyceride rather than high cholesterol or LDL
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Old 04-23-2010
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Default D

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.
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Old 04-24-2010
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yes u're all ryte. the answer is D. thanks for the explanations!
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Biochemistry-, Cardiovascular-, Step-1-Questions

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