Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
J Am Coll Cardiol
; 70(14): 1732-1740, 2017 Oct 03.
Article
em En
| MEDLINE
| ID: mdl-28958330
ABSTRACT
BACKGROUND:
Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH).OBJECTIVES:
This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing.METHODS:
Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Dutch Lipid Clinic (DLC) and Simon Broome (SB) FH clinical criteria were also applied.RESULTS:
The prevalence of genetically confirmed FH was 8.7% (95% confidence interval [CI] 4.3% to 16.4%; n = 9); 29% (95% CI 18.5% to 42.1%; n = 18) of patients without FH variants had a score highly suggestive of polygenic hypercholesterolemia. The prevalence of probable to definite FH according to DLC criteria was 27.2% (95% CI 19.1% to 37.0%; n = 28), whereas SB criteria identified 27.2% of patients (95% CI 19.1% to 37.0%; n = 28) with possible to definite FH. DLC and SB algorithms failed to diagnose 4 (44%) and 3 (33%) patients with genetically confirmed FH, respectively. Cascade genetic testing in first-degree relatives identified 6 additional individuals with FH.CONCLUSIONS:
The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Herança Multifatorial
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Síndrome Coronariana Aguda
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Hiperlipoproteinemia Tipo II
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LDL-Colesterol
/
Hipolipemiantes
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article