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. 2022 Aug 17:50:17-24.
doi: 10.1016/j.athplu.2022.08.001. eCollection 2022 Dec.

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

Jean Ferrières  1   2 , Michel Farnier  3 , Eric Bruckert  4 , Alexandre Vimont  5 , Vincent Durlach  6 , Emile Ferrari  7 , Antonio Gallo  4 , Franck Boccara  8 , Dorota Ferrières  1 , Sophie Béliard  9   10 ; French FH Registry group: French REgistry of Familial hypERCHOLesterolemia (REFERCHOL)
Collaborators, Affiliations

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

Jean Ferrières et al. Atheroscler Plus. .

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.

Keywords: Heterozygous familial hypercholesterolemia; Incidence; Lipid-lowering treatment; Prognosis; Recurrence; Registry.

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Conflict of interest statement

JF reports personal fees from Amgen, Sanofi and Servier. MF reports having received grants, consulting fees and/or honoraria and delivering lectures for Abbott, Amarin, Amgen, AstraZeneca, Austell, Kowa, Merck and Co, Organon, Pfizer, Recordati, Sanofi/Regeneron, Servier, SMB and Viatris. EB reports grants from Sanofi and Amgen, and personal fees from Aegerion, Danone, Genfit, MSD, Sanofi/Regeneron Pharmaceuticals, Inc., AstraZeneca, Servier, AMGEN, AKCEA, Mylan. AV has no conflict of interest to declare. VD reports fees payed to him or his institution for membership of advisory boards, speaker and clinical trials from Amgen, Sanofi, Lilly, Servier, Novo and Bioprojet. EF has no conflict of interest to declare. AG has received honoraria for public speaking or consultancy support from Akcea Therapeutics, AMGEN, Mylan, Novartis, Organon, Sanofi and Regeneron, Unilever and MSD. FB reports research grants from Amgen, lecture fees from Gilead, ViiV Healthcare, Amgen, Sanofi, MSD, Novo Nordisk and Servier outside the submitted work. DF has no conflict of interest to declare. SB has received honoraria for board, conferences, clinical trial or congress from Aegerion, Akcea, Amgen, Elivie, Sanofi, Novartis, Regeneron.

Figures

Image 1
Graphical abstract
Fig. 1
Fig. 1
REFERCHOL cohort flowchart. SNDS, French national health data system; HeFH, heterozygous familial hypercholesterolemia; DLCN, Dutch Lipid Clinic Network; CV, cardiovascular.
Fig. 2
Fig. 2
Cumulative rates of all cardiovascular events according to previous cardiovascular history.
See this image and copyright information in PMC

References

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