Atherosclerosis Plus (Dec 2022)
Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
- Jean Ferrières,
- Michel Farnier,
- Eric Bruckert,
- Alexandre Vimont,
- Vincent Durlach,
- Emile Ferrari,
- Antonio Gallo,
- Franck Boccara,
- Dorota Ferrières,
- Sophie Béliard,
- Denis Angoulvant,
- Karine Aouchiche,
- Sophie Beliard,
- Franck Boccara,
- Eric Bruckert,
- Bertrand Cariou,
- Valérie Carreau,
- Alain Carrie,
- Sybil Charrieres,
- Yves Cottin,
- Mathilde Di Filippo,
- Caroline Dourmap,
- Pierre-Henri Ducluzeau,
- Vincent Durlach,
- Michel Farnier,
- Emile Ferrari,
- Dorota Ferrieres,
- Jean Ferrieres,
- Antonio Gallo,
- Regis Hankard,
- Jocelyn Inamo,
- Olga Kalmykova,
- Michel Krempf,
- Julie Lemale,
- Philippe Moulin,
- François Paillard,
- Noel Peretti,
- Agnes Perrin,
- Alain Pradignac,
- Yann Pucheu,
- Jean Pierre Rabes,
- Rachel Reynaud,
- Vincent Rigalleau,
- François Schiele,
- Ariane Sultan,
- Patrick Tounian,
- René Valero,
- Bruno Verges,
- Cecile Yelnik,
- Olivier Ziegler
Affiliations
- Jean Ferrières
- Department of Cardiology, Toulouse Rangueil University Hospital, Toulouse University School of Medicine, Toulouse, France; INSERM UMR 1295, Toulouse Paul Sabatier University, Toulouse, France; Corresponding author. Department of Cardiology Toulouse Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 09, France.
- Michel Farnier
- Physiopathology and Epidemiology Cerebro-Cardiovascular (PEC2), EA 7460 UFR Health Sciences, University of Burgundy and Franche Comté, Dijon, France
- Eric Bruckert
- Department of Endocrinology and Cardiovascular Disease Prevention, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, France
- Alexandre Vimont
- Public Health Expertise, Paris, France
- Vincent Durlach
- Champagne-Ardenne University, UMR CNRS 7369 MEDyC, Cardio-Thoracic Department, Reims Hospital, 51092, Reims, France
- Emile Ferrari
- Department of Cardiology, Pasteur Hospital, Nice, France
- Antonio Gallo
- Department of Endocrinology and Cardiovascular Disease Prevention, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, France
- Franck Boccara
- Service de Cardiologie, Faculty of Medicine, Sorbonne Université, INSERM UMR 938, UPMC AP-HP, Hôpital Saint-Antoine, Paris, France
- Dorota Ferrières
- Department of Cardiology, Toulouse Rangueil University Hospital, Toulouse University School of Medicine, Toulouse, France
- Sophie Béliard
- Aix Marseille University, INSERM, INRAE, C2VN, Marseille, France; APHM, Department of Nutrition, Metabolic Diseases, Endocrinology, La Conception Hospital, Marseille, France
- Denis Angoulvant
- Karine Aouchiche
- Sophie Beliard
- Franck Boccara
- Eric Bruckert
- Bertrand Cariou
- Valérie Carreau
- Alain Carrie
- Sybil Charrieres
- Yves Cottin
- Mathilde Di Filippo
- Caroline Dourmap
- Pierre-Henri Ducluzeau
- Vincent Durlach
- Michel Farnier
- Emile Ferrari
- Dorota Ferrieres
- Jean Ferrieres
- Antonio Gallo
- Regis Hankard
- Jocelyn Inamo
- Olga Kalmykova
- Michel Krempf
- Julie Lemale
- Philippe Moulin
- François Paillard
- Noel Peretti
- Agnes Perrin
- Alain Pradignac
- Yann Pucheu
- Jean Pierre Rabes
- Rachel Reynaud
- Vincent Rigalleau
- François Schiele
- Ariane Sultan
- Patrick Tounian
- René Valero
- Bruno Verges
- Cecile Yelnik
- Olivier Ziegler
- Journal volume & issue
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Vol. 50
pp. 17 – 24
Abstract
Background and aims: Heterozygous familial hypercholesterolemia (HeFH) is increasingly better diagnosed and treatments can improve the cardiovascular prognosis. We evaluated the long-term cardiovascular risk of HeFH using the French REgistry of Familial hypERCHOLesterolemia (REFERCHOL). Methods: We studied HeFH patients diagnosed genetically and clinically by the Dutch Lipid Clinic Network (DLCN) criteria in all lipid clinics across the country and their 5-year risk of cardiovascular events (all fatal and non-fatal acute coronary, cerebral and peripheral arterial disease events, aortic valve replacement surgery) using the French national health data system. Results: The database comprised 3202 individuals, 2010 (62.8%) with genetically verified HeFH and 1192 (37.2%) a DLCN score ≥6. Of these individuals, 2485 (77.6%) were in primary prevention and 717 (22.4%) in secondary prevention. The incidence of cardiovascular events was 24.58 per 1000 person-years for the overall sample, 19.15 in primary prevention and 43.40 in secondary prevention. The incidence of myocardial infarction, cerebral infarction and death was 16.32 per 1000 person-years for the overall sample, 12.93 in primary prevention and 28.08 in secondary prevention. The incidence of aortic valve replacement was 1.78 per 1000 person-years. In the overall sample, at inclusion, 41% were not treated for LDL cholesterol, 48% of these in primary prevention and 20% in secondary prevention and high-dose statins were used by only 24% of individuals, 15% of these in primary prevention and 45% in secondary prevention. Conclusions: The incidence of cardiovascular events in HeFH is high and lipid-lowering treatment is far from optimal. The cardiovascular risk of HeFH is underestimated and patients are inadequately treated.
