The American journal of the medical sciences
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The authors report the longest-lived patient with homozygous familial hypercholesterolemia, the seventh case of a defect in internalization of low-density lipoprotein (LDL). The patient is a 57-year-old man, whose plasma total cholesterol (TC) and LDL-cholesterol (LDL-C) concentrations were 465-660 mg/100 ml and 461 mg/100 ml, respectively, while his plasma high-density lipoprotein-cholesterol (HDL-C) was 13.6-16.9 mg/100 ml. ⋯ His coronary angiogram revealed diffuse coronary artery narrowing. Receptor studies revealed that his fibroblasts bound as much LDL as normal cells, but could not internalize or degrade LDL.