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June 17, 1976New England Journal of Medicine

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

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Population

Patients with familial hypercholesterolemia

Design

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Implication

Informs recognition of autosomal-dominant hypercholesterolemia; leaves open therapeutic implications in the statin era.

Key Points

  • To delineate the clinical and genetic characteristics of familial hypercholesterolemia arising from mutations affecting low-density lipoprotein receptor function.
  • Evaluated phenotypic expression, inheritance patterns, and plasma lipoprotein levels in individuals carrying single or double copies of the familial hypercholesterolemia gene.
  • Identified four cardinal features: elevated plasma low-density lipoprotein, tendon xanthomas, premature coronary heart disease, and autosomal-dominant transmission.
  • Patients heterozygous for the mutant allele exhibit plasma cholesterol levels between 300 and 500 mg per 100 ml from birth, typically manifesting tendon xanthomas and coronary disease during the third to sixth decades.

Structured PICO

P
Population
Patients with familial hypercholesterolemia

This foundational paper describes familial hypercholesterolemia as a genetic defect in the LDL receptor leading to severe hypercholesterolemia and premature coronary heart disease.

Cite This Study

A 1976 study studied this question.

synapsesocial.com/papers/6a7eff5dcda104a52269a4aehttps://doi.org/10.1056/nejm197606172942509
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Use of mutant fibroblasts in the analysis of the regulation of cholesterol metabolism in human cells1975 · 43 citations
  2. 2Homozygous Familial Hypercholesterolemia1975 · 53 citations
  3. 3Binding, internalization, and degradation of low density lipoprotein by normal human fibroblasts and by fibroblasts from a case of homozygous familial hypercholesterolemia.1976 · 87 citations
  4. 4Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.1975 · 178 citations
  5. 5Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia.1975 · 244 citations