Risk of brain infarction in familial hypercholesterolemia.

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Abstract
We followed 54 subjects with heterozygous familial hypercholesterolemia for an average of 10 (range 3-14) years. Half were treated surgically with partial ileal bypass and the other half (matched for age, sex, coronary heart disease, blood pressure, diabetes mellitus, smoking, obesity, and serum cholesterol concentration) were treated conservatively with diet and hypolipidemic drugs. The mean decrease in serum cholesterol concentration from the average value of 522 mg/dl on entry into the study was 32% in the surgically treated group and 10% in the conservatively treated group. One quarter of the subjects (14 of 54) had symptomatic cerebrovascular disorders and one tenth (six of 54) suffered a brain infarction at a mean age of 43 (range 30-57) years. Two thirds of the brain infarctions occurred during follow-up. The method of treatment of familial hypercholesterolemia did not affect the number of new cerebrovascular events. The incidence of brain infarction was 7.4/1000/yr. The risk of brain infarction in these subjects with familial hypercholesterolemia was at least 20 times higher than in the general population. We conclude that symptomatic subjects with familial hypercholesterolemia have not only a high risk of coronary heart disease but also a high risk of cerebrovascular disorders.