Article
Clinical phenotype in relation to the distance-to-index-patient in familial hypercholesterolemia.
Atherosclerosis - 1 Mar 2016
Besseling Joost, Huijgen Roeland, Martin Seth S, Hutten Barbara A, Kastelein John J P, Hovingh G Kees
Abstract excerpt
BACKGROUND AND AIM: We evaluated whether the severity of the familial hypercholesterolemia (FH) phenotype, i.e. increased levels of low-density lipoprotein cholesterol (LDL-C) and cardiovascular disease (CVD) risk, decreases in more distantly related patients within one family. METHODS: We included heterozygous FH patients identified by genetic cascade screening in the Netherlands from 1994 to 2014. A cascade...
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