The longest-lived patient with homozygous familial hypercholesterolemia secondary to a defect in internalization of the LDL receptor.

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. He was the product of a consanguineous marriage, and his parents, brothers, and a sister had mild hypercholesterolemia. 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.