Family history of hypercholestrolemia and swellings on Achilles tendon - USMLE Forums
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Old 10-17-2011
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Question Family history of hypercholestrolemia and swellings on Achilles tendon

A 30-year-old man has chest pain and shortness of breath for the past 4 hours. He denies prior episodes. He has no medical issues, takes no medications and has no allergies. He reports a strong family history of coronary artery disease. Evaluation reveals positive cardiac enzymes, consistent with a non-Q wave myocardial infarction. He is admitted for management. Examination shows nodular swellings on his Achilles tendon. His serum cholesterol level is 400 mg/dL. Which of the following protein defects is the most likely cause of this patient’s condition?

A. Apoprotein CII
B. Apoprotein E
C. LDL receptor
D. Lipoprotein (a)
E. Lipoprotein lipase
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Old 10-18-2011
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ans C. LDL receptor....
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Old 10-18-2011
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C. LDL receptor
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C. LDL receptor
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Correct Answer Answer

The correct answer is C. Familial hypercholesterolemia is an autosomal dominant defect in the LDL receptor. As a result, tissues are unable to take up cholesterol rich LDL lipoprotein particles from the plasma. The high LDL levels lead to enhanced infiltration of cholesterol into the arterial wall causing enhanced atherosclerosis.
Apoprotein CII (choice A) deficiency leads to familial apoprotein CII deficiency. This causes elevation in chylomicrons and VLDL.
Apoprotein E (choice B) defect causes familial type 3 hyperlipoproteinemia and an increase in chylomicron remnants. Treatment is with gemfibrozil.
Lipoprotein (a) is a particle that has been suggested to increase the risk of coronary artery disease when present in large amounts. It is nearly identical in structure to LDL particles. The particle may slow the breakdown of blood clots (choice D).
Familial lipoprotein lipase deficiency (type 1 hyperlipoproteinemia) is a rare autosomal recessive genetic disorder that results from a deficiency of lipoprotein lipase. The result is massive chylomicronemia (choice E).
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