Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia

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...

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Main Authors: 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, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di Filippo, Caroline Dourmap, Pierre-Henri Ducluzeau, Dorota Ferrieres, Jean Ferrieres, 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
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Atherosclerosis Plus
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2667089522000451
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author 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
author_facet 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
author_sort Jean Ferrières
collection DOAJ
description 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.
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spelling doaj.art-fa47bb8034c24276b3622768a9f98d022022-12-22T04:19:46ZengElsevierAtherosclerosis Plus2667-08952022-12-01501724Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemiaJean Ferrières0Michel Farnier1Eric Bruckert2Alexandre Vimont3Vincent Durlach4Emile Ferrari5Antonio Gallo6Franck Boccara7Dorota Ferrières8Sophie Béliard9Denis AngoulvantKarine AouchicheSophie BeliardFranck BoccaraEric BruckertBertrand CariouValérie CarreauAlain CarrieSybil CharrieresYves CottinMathilde Di FilippoCaroline DourmapPierre-Henri DucluzeauVincent DurlachMichel FarnierEmile FerrariDorota FerrieresJean FerrieresAntonio GalloRegis HankardJocelyn InamoOlga KalmykovaMichel KrempfJulie LemalePhilippe MoulinFrançois PaillardNoel PerettiAgnes PerrinAlain PradignacYann PucheuJean Pierre RabesRachel ReynaudVincent RigalleauFrançois SchieleAriane SultanPatrick TounianRené ValeroBruno VergesCecile YelnikOlivier ZieglerDepartment 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.Physiopathology and Epidemiology Cerebro-Cardiovascular (PEC2), EA 7460 UFR Health Sciences, University of Burgundy and Franche Comté, Dijon, FranceDepartment of Endocrinology and Cardiovascular Disease Prevention, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, FrancePublic Health Expertise, Paris, FranceChampagne-Ardenne University, UMR CNRS 7369 MEDyC, Cardio-Thoracic Department, Reims Hospital, 51092, Reims, FranceDepartment of Cardiology, Pasteur Hospital, Nice, FranceDepartment of Endocrinology and Cardiovascular Disease Prevention, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, Paris, FranceService de Cardiologie, Faculty of Medicine, Sorbonne Université, INSERM UMR 938, UPMC AP-HP, Hôpital Saint-Antoine, Paris, FranceDepartment of Cardiology, Toulouse Rangueil University Hospital, Toulouse University School of Medicine, Toulouse, FranceAix Marseille University, INSERM, INRAE, C2VN, Marseille, France; APHM, Department of Nutrition, Metabolic Diseases, Endocrinology, La Conception Hospital, Marseille, FranceBackground 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.http://www.sciencedirect.com/science/article/pii/S2667089522000451Heterozygous familial hypercholesterolemiaRegistryIncidenceRecurrenceLipid-lowering treatmentPrognosis
spellingShingle 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
Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
Atherosclerosis Plus
Heterozygous familial hypercholesterolemia
Registry
Incidence
Recurrence
Lipid-lowering treatment
Prognosis
title Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
title_full Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
title_fullStr Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
title_full_unstemmed Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
title_short Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
title_sort burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia
topic Heterozygous familial hypercholesterolemia
Registry
Incidence
Recurrence
Lipid-lowering treatment
Prognosis
url http://www.sciencedirect.com/science/article/pii/S2667089522000451
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