Needed: New Therapy for Hypercholesterolemia
- 3 March 1977
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 296 (9), 508-510
- https://doi.org/10.1056/nejm197703032960909
Abstract
Familial hypercholesterolemia is an unequivocal example of a single-gene defect that produces hypercholesterolemia followed by atherosclerosis. Although the disease is transmitted as a dominant trait, rare patients inherit two copies of the mutant gene and thus express the more severe homozygous form of the disease.1 Studies of these homozygotes have been particularly valuable in extending knowledge of the link between cholesterol and lipoprotein metabolism. The homozygous form of familial hypercholesterolemia is characterized by xanthomatosis, prematurely severe atherosclerosis and fourfold to six-fold elevations of plasma cholesterol in the form of low-density lipoprotein. Despite this massive elevation of plasma cholesterol levels, studies . . .Keywords
This publication has 11 references indexed in Scilit:
- Regulation of low density lipoprotein receptor activity in freshly isolated human lymphocytes.JCI Insight, 1976
- Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locusCell, 1976
- Transiently Reduced Activity of Carbamyl Phosphate Synthetase and Ornithine Transcarbamylase in Liver of Children with Reye's SyndromeNew England Journal of Medicine, 1976
- Conversion of very low density lipoprotein to low density lipoprotein. A metabolic study of apolipoprotein B kinetics in human subjects.JCI Insight, 1975
- Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia.JCI Insight, 1975
- The metabolism of the apoprotein of plasma low density lipoprotein in familial hype rbetalipoproteinaemia in the homozygous formAtherosclerosis, 1975
- Dietary and Drug Treatment of Primary HyperlipoproteinemiaAnnals of Internal Medicine, 1972
- The metabolism of low density lipoprotein in familial type II hyperlipoproteinemiaJCI Insight, 1972
- The metabolism of very low density lipoprotein proteins I. Preliminary in vitro and in vivo observationsBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1972
- The inheritance of essential familial hypercholesterolemiaAmerican Journal Of Medicine, 1964