Familial Hypercholesterolemia: A Genetic Defect in the Low-Density Lipoprotein Receptor

M. S. Brown, J. L. Goldstein

Research output: Contribution to journalReview article

154 Scopus citations

Abstract

FAMILIAL hypercholesterolemia, an example of a single-gene disorder that produces both hypercholesterolemia and atherosclerosis in man,123is characterized by four cardinal features: hypercholesterolemia resulting from an elevated plasma concentration of low-density lipoprotein; tendon xanthomas; premature coronary heart disease; and autosomal-dominant inheritance. In patients who have inherited a single copy of the gene for familial hypercholesterolemia, the plasma cholesterol level is about 300 to 500 mg per 100 ml from birth, but symptoms do not develop until the third to the sixth decade, when tendon xanthomas and coronary heart disease appear. In patients who have inherited two copies of the gene.

Original languageEnglish (US)
Pages (from-to)1386-1390
Number of pages5
JournalNew England Journal of Medicine
Volume294
Issue number25
DOIs
StatePublished - Jun 17 1976

ASJC Scopus subject areas

  • Medicine(all)

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