Familial hypercholesterolemia: Pathogenesis of a receptor disease

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Abstract

Familial hypercholesterolemia is a prototype for a class of diseases that result from defects in receptor molecules. The three cardinal features of familial hypercholesterolemia are: 1) a selective elevation in the plasma level of one cholesterol-carrying lipoprotein, low density lipoprotein (LDL); 2) a selective deposition of LDL-derived cholesterol in macrophage-like scavenger cells throughout the body, but not in parenchymal cells; and 3) inheritance as an autosomal dominant trait with gene dosage effect, i.e., the disease is more serious in patients with the homozygous than with the heterozygous state. In this article, the authors review the evidence that each of these cardinal features of familial hypercholesterolemia can be explained by a genetic defect in a cell surface receptor for plasma LDL.

Original languageEnglish (US)
Title of host publicationJohns Hopkins Medical Journal
Pages8-16
Number of pages9
Volume143
Edition1
Publication statusPublished - 1978

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Goldstein, J. L., & Brown, M. S. (1978). Familial hypercholesterolemia: Pathogenesis of a receptor disease. In Johns Hopkins Medical Journal (1 ed., Vol. 143, pp. 8-16)