The very high cardiovascular risk in heterozygous familial hypercholesterolemia: Analysis of 734 French patients

Abstract

Background: Heterozygous familial hypercholesterolemia (heFH) is a genetic disease causing high levels of low-density lipoprotein cholesterol (LDL-C). Although this population is at high cardiovascular (CV) risk, the risk is variable within patients depending on additional risk factors. CV disease risk groups have been defined by the Nouvelle Société Francophone d'Athérosclérose (NSFA) and by the National Lipid Association recommendations.

Objectives: The study aimed to describe a sample of French heFH patients, comparing patients at very high risk (VHR) and patients at high risk in terms of demographic and clinical characteristics as well as biological measurements and disease management.

Methods: Cross-sectional retrospective analysis on 734 patients hospitalized after 2005 in 5 academic centers.

Results: When considering NSFA classification, 550 (74.9%) patients belonged to the VHR group. Most patients in the VHR group presented more than 1 risk factor, the most prevalent ones being Lp(a) > 50 mg/dL and smoking. Patients in the VHR group were older (50.6 vs 45.0 years old, P = .0002), and presented a higher body mass index (25.5 kg/m(2) vs 23.3 kg/m(2), P < .0001). The proportion of patients with carotid arterial plaque was higher in the VHR group (59.8% vs 48.6%, P = .06). Total cholesterol (2.41 g/L on average) and LDL-C (1.65 g/L on average) were not found to be significantly different. Maximum level of lipid-lowering treatments were used in 34% of cases in the VHR group, significantly higher than 16% in the high-risk group (P = .001). Very similar results were found when using the National Lipid Association recommendations.

Conclusion: This study provides a detailed description of French heFH patients according to their CV risk. Patients with very high CV risk had usually more advanced carotid plaques and were treated with heavier lipid-lowering drugs although their LDL-C level remained similar. This highlights the significant burden of this population.

Keywords: Cardiovascular risk; Heterozygous familial hypercholesterolemia; Hypercholesterolemia; Hyperlipidemia; LDL cholesterol.