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The very high cardiovascular risk in heterozygous familial hypercholesterolemia: Analysis of 734 French patients
Sophie Béliard1, Aurélie Millier2, Valérie Carreau3
1Aix-Marseille University, Faculty of Medicine, Marseille, France; INSERM, UMR1062, Marseille, France; INRA, UMR1260, Marseille, France; APHM, Department of Nutrition, Metabolic Diseases, Endocrinology, La Conception Hospital, Marseille, France.
Insights
French patients with heterozygous familial hypercholesterolemia (heFH) at very high cardiovascular risk show more advanced carotid plaques and receive intensive lipid-lowering treatments, despite similar LDL-C levels compared to high-risk patients.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Heterozygous familial hypercholesterolemia (heFH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C).
- Individuals with heFH face a variable, yet significant, cardiovascular (CV) risk influenced by additional risk factors.
- Established guidelines from the Nouvelle Société Francophone d'Athérosclérose (NSFA) and the National Lipid Association stratify CV disease risk.
Purpose of the Study:
- To characterize a cohort of French heFH patients.
- To compare demographic, clinical, and biological profiles of very high-risk (VHR) versus high-risk heFH patients.
- To assess disease management differences between risk groups.
Main Methods:
- A cross-sectional retrospective analysis was conducted.
- Data from 734 heFH patients hospitalized after 2005 across 5 academic centers were analyzed.
- Patients were categorized into VHR and high-risk groups based on NSFA and National Lipid Association recommendations.
Main Results:
- The majority of heFH patients (74.9%) were classified as VHR by NSFA criteria.
- VHR patients were older, had higher BMI, and a greater prevalence of risk factors like elevated Lp(a) and smoking.
- Carotid plaque prevalence was higher in VHR patients, who also received more intensive lipid-lowering therapies, despite comparable LDL-C levels to high-risk patients.
Conclusions:
- This study details the CV risk profile of French heFH patients.
- Very high CV risk heFH patients exhibit more advanced atherosclerosis and undergo more aggressive treatment, underscoring their substantial disease burden.
- Findings emphasize the need for tailored management strategies for heFH patients across different risk strata.
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.
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