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Journal Articles Atherosclerosis Plus Year : 2022

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

Jean Ferrières
Michel Farnier
  • Function : Author
Alexandre Vimont
  • Function : Author
Vincent Durlach
  • Function : Author
Emile Ferrari
  • Function : Author
Franck Boccara
Dorota Ferrières
  • Function : Author
Sophie Béliard
  • Function : Author
Denis Angoulvant
  • Function : Author
Karine Aouchiche
  • Function : Author
Franck Boccara
  • Function : Author
Bertrand Cariou
  • Function : Author
Sybil Charrieres
  • Function : Author
Yves Cottin
  • Function : Author
Mathilde Di Filippo
  • Function : Author
Caroline Dourmap
  • Function : Author
Pierre-Henri Ducluzeau
  • Function : Author
Vincent Durlach
  • Function : Author
Michel Farnier
  • Function : Author
Emile Ferrari
  • Function : Author
Dorota Ferrieres
  • Function : Author
Jean Ferrieres
  • Function : Author
Regis Hankard
  • Function : Author
Jocelyn Inamo
  • Function : Author
Olga Kalmykova
  • Function : Author
Michel Krempf
  • Function : Author
Julie Lemale
  • Function : Author
Philippe Moulin
  • Function : Author
François Paillard
  • Function : Author
Noel Peretti
  • Function : Author
Agnes Perrin
  • Function : Author
Alain Pradignac
  • Function : Author
Yann Pucheu
  • Function : Author
Jean Pierre Rabes
  • Function : Author
Rachel Reynaud
Vincent Rigalleau
  • Function : Author
François Schiele
  • Function : Author
Ariane Sultan
  • Function : Author
Patrick Tounian
  • Function : Author
René Valero
  • Function : Author
Bruno Verges
  • Function : Author
Cecile Yelnik
  • Function : Author
Olivier Ziegler
  • Function : Author

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.

Dates and versions

hal-03922730 , version 1 (04-01-2023)

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Jean Ferrières, Michel Farnier, Eric Bruckert, Alexandre Vimont, Vincent Durlach, et al.. Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia. Atherosclerosis Plus, 2022, 50, pp.17-24. ⟨10.1016/j.athplu.2022.08.001⟩. ⟨hal-03922730⟩
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