2004
DOI: 10.1093/aje/kwh237
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Familial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review

Abstract: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low density lipoprotein receptor gene (LDLR) can result in the FH phenotype, and there is evidence that receptor-negative mutations result in a more severe phenotype than do receptor-defective mutations. Mutations in the apol… Show more

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Cited by 315 publications
(234 citation statements)
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References 96 publications
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“…Owing to the extremely high plasma LDL-C levels, HoFH patients are considered to be at the highest level of risk for early ASCVD, which may be up to 100 times higher than the risk in the general population 7,9 . HoFH individuals frequently develop aortic or supra-aortic valve stenosis in addition to atherosclerosis in the aorta, coronary, carotid and peripheral arteries 7 .…”
Section: Role Of Funding Sourcementioning
confidence: 99%
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“…Owing to the extremely high plasma LDL-C levels, HoFH patients are considered to be at the highest level of risk for early ASCVD, which may be up to 100 times higher than the risk in the general population 7,9 . HoFH individuals frequently develop aortic or supra-aortic valve stenosis in addition to atherosclerosis in the aorta, coronary, carotid and peripheral arteries 7 .…”
Section: Role Of Funding Sourcementioning
confidence: 99%
“…Despite the elevated lifetime ASCVD risk in FH, the risk is heterogeneous in primary prevention 9,18,33 . This is true even among individuals with the same FH-causing mutation 57 .…”
Section: In 3382mentioning
confidence: 99%
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“…1,2 As many as 24% of asymptomatic patients with FH have been found to have extensive CAD, although 16% of patients have no CAD. 3 This heterogeneity and the lack of agreed clinical criteria for the diagnosis of FH complicates the detection and treatment of FH.…”
Section: Introductionmentioning
confidence: 99%
“…The specific genes involved in these processes and their variants in the general population are the subject of numerous ongoing studies. 32 Endothelial dysfunction is caused by a wide range of factors including inflammatory processes, smoking, or elevated levels of lipoproteins such as LDL. We did not find any results indicating that particular gene mutations determine endothelial dysfunction.…”
Section: Photoplethysmographic Pulse Waveform Analysismentioning
confidence: 99%