Abstract

Aim: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and a higher risk of early cardiovascular (CV) diseases. The estimated prevalence of heterozygous FH (HeFH) is about 1 in 200, but FH is underdiagnosed and undertreated at present. Coronary Artery Calcification (CAC) assessment and arterial stiffness measured as Pulse Wave Velocity (PWV) demonstrated their accuracy in cardiovascular (CV) risk assessment but data in HeFH are lacking. The aim of this study was to evaluate the association between CAC and PWV in a population of HeFH patients in order to improve risk stratification and therapy timing and setting.

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