Aashi
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A 29-year old man comes to your office for a routine visit. His only complaint is leg pain after walking a three-block distance. He states that six months ago he was able to walk a longer distance without having to stop. His father died of a heart attack at the age of 44. His mother had diabetes mellitus, and she too died of a heart attack at the age of 47. His older brother, who is now 35 years old, had a stroke and underwent a carotid endarterectomy last year.
The patient presents as a thin individual with a blood pressure of 135/70 mm Hg and a heart rate of 78/min. Physical examination findings are remarkable for the presence of multiple xanthelasmas on the face, chest, and upper back. There is bilateral, irregular, firm, and nodular thickening in the Achilles tendons and extensor tendons of the hands. This patient's medications include atorvastatin, gemfibrozil at maximum doses, and niacin, which was added to the regimen six months ago. He is maintaining a fat-free diet and exercises regularly. Laboratory test results show: total cholesterol 815 mg/dL, triglycerides 515 mg/dL, and HDL 55 mg/dL. The level of total cholesterol has increased by 15% since the last visit.
What would you recommend to this patient?
(A) Nutritionist consult
(B) Stress test for detection of silent ischemia
(C) Plasmapheresis
(D) Liver transplantation
(E) Increase the dose of statins as long as transaminases are within the normal range
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| prathapdoctor
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Familial hypercholesteremia, ? liver transplantation.
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| robin082006
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Familial hypercholesteremia unresponsive to drugs, I go with C first
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| doc_clotaire
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This patient is at risk for premature MI as his parents . My first recomendation would be :
B
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| fox
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I think you can increase statins as long as transaminases are normal....Wow we have 4 different answers!!
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| Aashi
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Answer:
(C) Plasmapheresis
Explanation:
This patient presents with familial hypercholesterolemia (FH), which is a common autosomal dominant disorder due to absent or defective LDL receptors and resulting in a decreased capacity to remove plasma LDL. LDL cholesterol levels are markedly increased. It is associated with characteristic xanthomas in the Achilles, patellar, and extensor tendons of the hands and by the presence of xanthelasma. Corneal arcus is frequently seen. It is frequently associated with early coronary artery disease (CAD), peripheral vascular disease, and cerebral vascular disease. The plasma cholesterol level is generally in the range of 300 to 500 mg/dL, and in some patients homozygous for FH, it can exceed 800 to 1,000 mg/dL. Triglyceride levels are usually normal, but in 10% of patients, they may be mildly elevated.
Because of the risk of CAD, these patients need especially vigorous therapy. A low-fat and low-cholesterol diet should be initiated, although it gives only a moderate result and will not be enough to control the problem by itself. Effective therapy can be achieved with HMG-CoA reductase inhibitors (statins) as first-line therapy. They lower LDL by 20 to 45%. When they are combined with a bile acid-binding resin, levels of LDL may be decreased by 50 to 60%. In some patients, triple therapy with a statin, a bile acid-binding resin, and niacin may be necessary. Patients homozygous for FH may not be responsive to these measures. For them, measures such as plasmapheresis or LDL apheresis are indicated. Liver transplant is the last resort when all else fails as treatment.
This patient is already on maximum doses of statins and bile acid-binding agent. The addition of niacin did not help. There is very little chance that any additional medical therapy will solve this patient's problem; that is why plasmapheresis is indicated.
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