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dc.contributor.authorAmor Salamanca, Almudena
dc.contributor.authorCastillo, Sergio
dc.contributor.authorGonzalez Vioque, Emiliano
dc.contributor.authorDomínguez, Fernando
dc.contributor.authorQuintana, Lucía
dc.contributor.authorLluís Ganella, Carla
dc.contributor.authorEscudier, Juan Manuel
dc.contributor.authorOrtega, Javier
dc.contributor.authorLara Pezzi, Enrique
dc.contributor.authorAlonso Pulpón, Luis
dc.contributor.authorGarcía Pavía, Pablo
dc.description.abstractBackground 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.eng
dc.publisherJournal of the American College of Cardiologyeng
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.subjectFamilial Hypercholesterolemiaspa
dc.subjectDutch Lipid Clinicspa
dc.subjectSimone Broome criteriaspa
dc.titleGenetically confirmed familial hypercholesterolemia in patients with acute coronary syndrome.eng
dc.description.extent860 KBspa

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