Show simple item record

dc.contributor.authorAmor-Salamanca, Almudena
dc.contributor.authorCastillo, Sergio
dc.contributor.authorGonzalez-Vioque, Emiliano
dc.contributor.authorDominguez, 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-Pulpon, Luis
dc.contributor.authorGarcia-Pavia, Pablo
dc.identifier.citationJ Am Coll Cardiol. 2017; 70(14):1732-1740es_ES
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.es_ES
dc.description.sponsorshipThis research was supported in part by the Instituto de Salud Carlos III (grants RD012/0042/0066 and CB16/11/00432), Spanish Ministry of Economy and Competitiveness (grant SAF2015-71863-REDT), and Alexion through an Investigator Initiated Research Grant. Grants from the Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by the Plan Estatal de I+D+I 2013-2016 European Regional Development Fund (FEDER), "A way of making Europe." The sponsors played no role in the design, collection, analysis, or interpretation of the data or in the decision to submit the manuscript for publication. Drs. Castillo, Lluis-Ganella, and Quintana are employees of Gendiag.exe/Ferrer inCode.es_ES
dc.subjectDutch Lipid Clinices_ES
dc.subjectSimon Broome criteriaes_ES
dc.subjectlow-density lipoprotein cholesteroles_ES
dc.subject.meshAdaptor Proteins, Signal Transducinges_ES
dc.subject.meshApolipoprotein B-100 es_ES
dc.subject.meshApolipoproteins E es_ES
dc.subject.meshCholesterol, LDL es_ES
dc.subject.meshComorbidity es_ES
dc.subject.meshFemale es_ES
dc.subject.meshGenetic Testing es_ES
dc.subject.meshHumans es_ES
dc.subject.meshHypolipidemic Agents es_ES
dc.subject.meshMale es_ES
dc.subject.meshMiddle Aged es_ES
dc.subject.meshMultifactorial Inheritance es_ES
dc.subject.meshPatient Selection es_ES
dc.subject.meshPrevalence es_ES
dc.subject.meshPrognosis es_ES
dc.subject.meshProprotein Convertase 9 es_ES
dc.subject.meshReceptors, LDLes_ES
dc.subject.meshReproducibility of Results es_ES
dc.subject.meshRisk Assessment es_ES
dc.subject.meshRisk Factors es_ES
dc.subject.meshSpain es_ES
dc.subject.meshSterol Esterase es_ES
dc.subject.meshAcute Coronary Syndrome es_ES
dc.subject.meshHyperlipoproteinemia Type II es_ES
dc.titleGenetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndromees_ES
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.contributor.funderInstituto de Salud Carlos III - ISCIIIes_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)es_ES
dc.contributor.funderEuropean Regional Development Fund (ERDF/FEDER)es_ES
dc.identifier.journalJournal of the American College of Cardiologyes_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Regulación Molecular de la Insuficiencia Cardiacaes_ES

Files in this item

Acceso Abierto

This item appears in the following Collection(s)

Show simple item record

Attribution-NonCommercial-NoDerivatives 4.0 Internacional
This item is licensed under a: Attribution-NonCommercial-NoDerivatives 4.0 Internacional