Clinical phenotype in relation to the distance-to-index-patient in familial hypercholesterolemia.

Joost Besseling,Roeland Huijgen,Seth S Martin,Barbara A Hutten,John J P Kastelein,G Kees Hovingh

Atherosclerosis（2016）

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摘要

•Levels of LDL-C vary widely among patients with familial hypercholesterolemia.•It can be hypothesized that patients identified early in a cascade screening setting express a more severe phenotype.•However, we found no association between distance-to-index and LDL-C or CVD risk.•These findings lend support for genetic cascade testing in familial hypercholesterolemia.

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关键词

Familial hypercholesterolemia,Genotype–phenotype relation,Low-density lipoprotein cholesterol,Distance-to-index

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