Abstract
Background
Heterozygous familial hypercholesterolemia (FH) is one of the most common monogenic
conditions but remains substantially underdiagnosed. One method for increasing the
diagnosis is via opportunistic screening of individuals presenting with acute coronary
syndrome (ACS). The prevalence of FH in the ACS population has been assessed in numerous
studies using various diagnostic criteria, resulting in wide variability of prevalence
estimates. The purpose of this study was to perform a systematic review and meta-analysis
to provide a more robust estimate.
Methods
We searched MEDLINE, EMBASE, Pubmed, Cochrane Central Register of Controlled Trials,
and Cochrane Database of Systematic Reviews to identify peer-reviewed articles reporting
the prevalence of FH in ACS. We calculated pooled prevalence using a random-effects
model. When multiple diagnostic criteria were used in a single study, we gave priority
to DNA-based criteria, followed by Dutch Lipid Clinic Network (DLCN) criteria. We
also investigated the prevalence in subanalyses according to age and diagnostic criteria.
Results
The overall pooled prevalence of FH in ACS, derived from 22 studies, was 4.7% (95%
confidence interval [CI], 3.0-7.3). DNA-based criteria and DLCN criteria provided
similar estimates of 5.0% (95% CI, 2.6-9.3) and 5.5% (95% CI, 3.0-10.0), respectively.
The prevalence was 7.3% (95% CI, 5.3-10.0) for patients aged ≤ 60 years and increased
to 13.7% (95% CI, 8.2-22.1) for those aged ≤45 years.
Conclusions
Approximately 1 in 21 patients with ACS has FH, and this increases to 1 in 7 among
those ≤45 years. These results reinforce the importance of screening for FH in the
ACS population.
Résumé
Contexte
L’hypercholestérolémie familiale hétérozygote est l’une des affections monogéniques
les plus fréquentes, mais elle demeure nettement sous-diagnostiquée. L’une des méthodes
permettant de favoriser son diagnostic est le dépistage opportuniste des personnes
consultant pour un syndrome coronarien aigu (SCA). La prévalence de l’hypercholestérolémie
familiale hétérozygote chez la population présentant un SCA a été évaluée dans de
nombreuses études à l’aide de divers critères diagnostiques, donnant lieu à une importante
variabilité de la prévalence estimée. L’objectif de cette étude était de réaliser
un examen systématique et une méta-analyse afin d’obtenir une estimation plus solide.
Méthodologie
Nous avons mené des recherches dans les bases de données MEDLINE, EMBASE, Pubmed,
Cochrane Central Register of Controlled Trials et Cochrane Database of Systematic
Reviews afin d’y trouver des articles révisés par des pairs indiquant la prévalence
de l’hypercholestérolémie familiale hétérozygote en présence d’un SCA. À l’aide d’un
modèle à effets aléatoires, nous avons calculé la prévalence à partir des données
groupées. Lorsque plusieurs critères diagnostiques étaient utilisés dans la même étude,
nous avons privilégié les critères fondés sur l’ADN, puis les critères du Dutch Lipid
Clinic Network (DLCN). Nous avons aussi évalué la prévalence dans des sous-analyses
effectuées en fonction de l’âge et des critères diagnostiques.
Résultats
La prévalence globale de l’hypercholestérolémie familiale hétérozygote en présence
d’un SCA selon les données groupées de 22 études a été de 4,7 % (intervalle de confiance
[IC] à 95 % : de 3,0 à 7,3). Les critères fondés sur l’ADN et les critères du DLCN
ont donné des estimations similaires, soit 5,0 % (IC à 95 % : de 2,6 à 9,3) et 5,5
% (IC à 95 % : de 3,0 à 10,0), respectivement. La prévalence était de 7,3 % (IC à
95 % : de 5,3 à 10,0) chez les patients âgés de ≤ 60 ans et passait à 13,7 % (IC à
95 % : de 8,2 à 22,1) chez les patients âgés de ≤ 45 ans.
Conclusion
Environ 1 patient sur 21 présentant un SCA était atteint d’hypercholestérolémie familiale
hétérozygote, cette prévalence passait à 1 sur 7 chez les patients de ≤ 45 ans. Ces
résultats soulignent l’importance du dépistage de l’hypercholestérolémie familiale
hétérozygote chez la population présentant un SCA.
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Article info
Publication history
Published online: June 24, 2019
Accepted:
June 19,
2019
Received:
May 13,
2019
Footnotes
See editorial by Gupta, pages 1270–1271 of this issue.
See page 1330 for disclosure information.
Identification
Copyright
© 2019 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
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Access this article on ScienceDirectLinked Article
- Finding the Familial Hypercholesterolemia Needle in Acute Coronary Syndrome: The Haystack Is Smaller Than You ThinkCanadian Journal of CardiologyVol. 35Issue 10
- PreviewFamilial hypercholesterolemia (FH), in its heterozygous form, is considered to be the most common autosomal genetic disorder in humans, with a prevalence in the general population of 0.4%, or 1 in 250.1 Through genetic mutations in proteins ultimately involved in low-density lipoprotein (LDL)–cholesterol production or regulation, FH results in a lifelong increase in LDL-cholesterol concentrations, leading to a multifold increase in the risk of atherosclerotic cardiovascular disease (ASCVD), particularly with premature onset.
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