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



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.



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



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.



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.
Aix-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. Electronic address: sophie.beliard@ap-hm.fr.
Sophie
S
Béliard
Creativ-Ceutical, Paris, France.
Aurélie
A
Millier
Department of Endocrinology and Cardiovascular Disease Prevention, Institute of Cardiometabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Valérie
V
Carreau
Department of Biochemistry, La Pitié-Salpêtrière Hospital, Paris, France.
Alain
A
Carrié
Department of Endocrinology, Louis Pradel Cardiovascular Hospital, Bron, France.
Philippe
P
Moulin
Department of Diabetology-Endocrinolgy, Pasteur University Hospital, Hôpital de Nico, Nice, France.
Alexandre
A
Fredenrich
Point Médical, Dijon, France.
Michel
M
Farnier
Department of Internal Medicine, Faculty of Pharmacy, University Hospital, Lille, France.
Gérald
G
Luc
Department of Endocrinology and Cardiovascular Disease Prevention, Institute of CardioMetabolism And Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
David
D
Rosenbaum
University of Aix-Marseille, Université Aix-Marseille, département santépublique, Jardin du Pharo, Marseille, France.
Mondher
M
Toumi
Department of Endocrinology and Cardiovascular Disease Prevention, Institute of CardioMetabolism And Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
Eric
E
Bruckert
D000328:Adult; D000368:Aged; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D015992:Body Mass Index; D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000209:etiology*; D002339:Carotid Arteries / Q000503:physiopathology; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003430:Cross-Sectional Studies; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D058226:Plaque, Atherosclerotic; D012189:Retrospective Studies; D012307:Risk Factors
D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL; D002784:Cholesterol
Cardiovascular risk; Heterozygous familial hypercholesterolemia; Hypercholesterolemia; Hyperlipidemia; LDL cholesterol