Familial hypercholesterolemia

a genetic defect in the low density lipoprotein receptor

M. S. Brown, J. L. Goldstein

Research output: Contribution to journalArticle

151 Citations (Scopus)

Abstract

Familial hypercholesterolemia, an example of a single gene disorder that produces both hypercholesterolemia and atherosclerosis in man, is 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, the clinical picture is much more severe: plasma cholesterol levels usually exceed 800 mg per 100 ml; cutaneous planar and tendon xanthomas appear during the first few years of life; and signs of coronary heart disease are evident before the age of 20 years. About one in 500 persons in the general population and about one in 20 patients with myocardial infarction have the heterozygous form of familial hypercholesterolemia, one of the commonest simply inherited disorders in man.

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

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Xanthomatosis
Hyperlipoproteinemia Type II
LDL Receptors
Tendons
Coronary Disease
Hypercholesterolemia
Cholesterol
Genes
LDL Lipoproteins
Atherosclerosis
Myocardial Infarction
Parturition
Skin
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Familial hypercholesterolemia : a genetic defect in the low density lipoprotein receptor. / Brown, M. S.; Goldstein, J. L.

In: New England Journal of Medicine, Vol. 294, No. 25, 1976, p. 1386-1390.

Research output: Contribution to journalArticle

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