Advanced Lipoproptein Profiling and Cardiovascular Risk Stratification in Familial Hypercholesterolemia

Familial hypercholesterolaemia (FH) is a genetic disorder characterised by elevated plasma LDLC levels. The causal role of low-density lipoprotein cholesterol (LDLC) in the progression of cardiovascular disease (CVD) is indisputable: genetic, epidemiological and interventional trials have unanimously shown that a reduction in LDL-C is associated with a reduced risk of CVD. Some drawbacks related to the limitations of the analytical methods are slowly surfacing due to the lower LDLC target achieved with the combination of several new treatments. This is mainly due to the fact that LDLC is not a comprehensive marker to stratify cardiovascular risk in subjects with increased levels of other atherogenic lipoproteins. Direct measurement of the concentration of apolipoproteins involved in cholesterol and triglycerides transportation, may provide more information than the simple measure of the cholesterol contained in these particles. There is an interest in measuring the various players involved in the lipoprotein processing chain. These apolipoproteins are increasingly being considered as possible biomarkers of cardiovascular disease risk. Indeed, there is increasing evidence that advanced lipoprotein testing methods, such as multiplexed measurements of apolipoprotein panels (ApoA-I, A-II, A-IV, B-100, C-I, C-II, C-III, E), provide more detailed information on the dyslipidaemic profiles of patients compared to conventional lipid testing, finally allowing a better understanding and stratification of subclinical atherosclerosis in these patients. The main objective of this study is to compare the apolipoprotein profile of patients with FH by comparing those with associated hypertriglyceridemia (hyperTG) to those with isolated hypercholesterolaemia. Adult subjects with a molecular diagnosis of Familial Hypercholesterolemia, treated by a statin, on primary prevention, asymptomatic for cardiovascular symptoms, will be recruited and stratified according to the presence/a