1985 Volume 13 Issue 4 Pages 991-992
A 55-year old male with homozygous familial hypercholesterolemia is described. His plasma cholesterol concentration was 540mg/dl. His parents of a consaguineous marriage, brothers and a sister also had mild hypercholesterolemia. Tendinous and tuberous xanthomas had appeared since he was 10-year old. Recently angina pectoris on efforts turned out and an electrocardiogram showed myocardial ischemic damage. A coronary angiogram revealed diffuse coronary arterial narrowing, although it has been reported that strictures are commonly seen in the proximal portions of the coronary arteries but the distal vessels are remarkably free of disease in familial hypercholesterolemic homozygotes. Usually familial hypercholesterolemic homozygotes die from myocardial infarction before age 30, this patient is 55-year old and the most long-lived as far as we surveyed. The receptor studies revealed that the fibroblasts of this patient bound as much LDL as normal cells, but they could not mediate internalization of receptor-bound LDL and degradation of LDL was negligible. So this case is the fourth case of homozygous familial hypercholesterolemia mutant with a defect in internalization.
