{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:51:15Z","timestamp":1787028675318,"version":"build-2736575974"},"reference-count":38,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T00:00:00Z","timestamp":1603929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009664","name":"Sociedad Espa\u00f1ola de Cardiolog\u00eda","doi-asserted-by":"publisher","award":["SECACCL-INV-CLI 20\/003"],"award-info":[{"award-number":["SECACCL-INV-CLI 20\/003"]}],"id":[{"id":"10.13039\/100009664","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study aimed to evaluate the prevalence of FH in patients with premature STEMI. Cardiovascular risk factors, LDLc (low-density lipoprotein cholesterol) evolution, and differences between genders were also evaluated. Consecutive patients were referred for cardiac catheterization to our center due to STEMI suspicion in 2018. From the 80 patients with confirmed premature CAD (men &lt; 55 and women &lt; 60 years old with confirmed CAD), 56 (48 men and eight women) accepted to be NGS sequenced for the main FH genes. Clinical information and DLCN (Dutch Lipid Clinic Network) score were analyzed. Only one male patient had probable FH (6\u20137 points) and no one reached a clinically definite diagnosis. Genetic testing confirmed that the only patient with a DLCN score \u22656 has HF (1.8%). Smoking and high BMI the most frequent cardiovascular risk factors (&gt;80%). Despite high doses of statins being expected to reduce LDLc levels at STEMI to current dyslipidemia guidelines LDL targets (&lt;55 mg\/dL), LDLc control levels were out of range. Although still 5.4 times higher than in general population, the prevalence of FH in premature CAD is still low (1.8%). To improve the genetic yield, genetic screening may be considered among patients with probable or definite FH according to clinical criteria. The classical cardiovascular risk factors prevalence far exceeds FH prevalence in patients with premature STEMI. LDLc control levels after STEMI were out range, despite intensive hypolipemiant treatment. These findings reinforce the need for more aggressive preventive strategies in the young and for intensive lipid-lowering therapy in secondary prevention.<\/jats:p>","DOI":"10.3390\/jcm9113489","type":"journal-article","created":{"date-parts":[[2020,10,29]],"date-time":"2020-10-29T23:06:12Z","timestamp":1604012772000},"page":"3489","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7803-4011","authenticated-orcid":false,"given":"Rebeca","family":"Lorca","sequence":"first","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Aparicio","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elias","family":"Cuesta-Llavona","sequence":"additional","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5433-1364","authenticated-orcid":false,"given":"Isaac","family":"Pascual","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7003-3196","authenticated-orcid":false,"given":"Alejandro","family":"Junco","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Hevia","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Villaz\u00f3n","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3518-6629","authenticated-orcid":false,"given":"Daniel","family":"Hernandez-Vaquero","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Julian","family":"Rodr\u00edguez Reguero","sequence":"additional","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2871-190X","authenticated-orcid":false,"given":"Cesar","family":"Moris","sequence":"additional","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliecer","family":"Coto","sequence":"additional","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"Reference Unit of Familiar Cardiomyopathies-HUCA, \u00c1rea del Coraz\u00f3n y Departamento de Gen\u00e9tica Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4958-6108","authenticated-orcid":false,"given":"Pablo","family":"Avanzas","sequence":"additional","affiliation":[{"name":"Heart Area, Hospital Universitario Central de Asturias, 33014 Oviedo, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Principado de Asturias, ISPA, 33014 Oviedo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1082.e1","DOI":"10.1016\/j.recesp.2017.10.048","article-title":"Gu\u00eda ESC 2017 sobre el tratamiento del infarto agudo de miocardio en pacientes con elevaci\u00f3n del segmento ST","volume":"70","author":"James","year":"2017","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/j.recesp.2014.11.027","article-title":"A\u00f1os de vida ajustados por discapacidad perdidos por cardiopat\u00eda isqu\u00e9mica en Espa\u00f1a","volume":"68","year":"2015","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1053\/euhj.2001.2842","article-title":"Coronary heart disease risk factors ranked by importance for the individual and community. A 21 year follow-up of 12,000 men and women from The Copenhagen City Heart Study","volume":"23","author":"Schnohr","year":"2002","journal-title":"Eur. Heart J."},{"key":"ref_4","unstructured":"Ruiz Garc\u00eda, A., Mata, P., Alonso, R., Gonz\u00e1lez-Juanatey, J., Badimon, L., D\u00edaz, D., Mu\u00f1oz, M.T., Mu\u00f1iz, O., Dalmau, J., and Fuentes, F. (2014). Diagn\u00f3stico y Tratamiento de la Hipercolesterolemia Familiar en Espa\u00f1a: Documento de Consenso, Fundaci\u00f3n Hipercolesterolemia Familiar."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1016\/j.cjca.2019.06.017","article-title":"Estimating the Prevalence of Familial Hypercholesterolemia in Acute Coronary Syndrome: A Systematic Review and Meta-analysis","volume":"35","author":"Kramer","year":"2019","journal-title":"Can. J. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.2147\/TACG.S44315","article-title":"The genetics of familial hypercholesterolemia and emerging therapies","volume":"28","author":"Vogt","year":"2015","journal-title":"Appl. Clin. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.atherosclerosis.2003.11.010","article-title":"Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia","volume":"173","author":"Civeira","year":"2004","journal-title":"Atherosclerosis"},{"key":"ref_8","unstructured":"WHO Human Genetics Programme (1998). Familial Hypercholesterolaemia (FH): Report of a Second WHO Consultation, Geneva, 4 September 1998, World Health Organization."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1016\/j.jacc.2018.05.044","article-title":"Clinical Genetic Testing for Familial Hypercholesterolemia","volume":"72","author":"Sturm","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/eurheartj\/ehz455","article-title":"2019 ESC\/EAS Guidelines for the management of dyslipidaemias: Lipid modification to reduce cardiovascular risk","volume":"41","author":"Mach","year":"2020","journal-title":"Eur. Heart J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.arteri.2019.04.002","article-title":"Indicaciones de los inhibidores de PCSK9 en la pr\u00e1ctica cl\u00ednica. Recomendaciones de la Sociedad Espa\u00f1ola de Arteriosclerosis (SEA), 2019","volume":"31","author":"Ascaso","year":"2019","journal-title":"Cl\u00ednica Investig. Arterioscler."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e016461","DOI":"10.1136\/bmjopen-2017-016461","article-title":"Estimating the prevalence of heterozygous familial hypercholesterolaemia: A systematic review and meta-analysis","volume":"7","author":"Akioyamen","year":"2017","journal-title":"BMJ Open"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3478","DOI":"10.1093\/eurheartj\/eht273","article-title":"Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society","volume":"34","author":"Nordestgaard","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1093\/eurheartj\/ehw028","article-title":"Mutations causative of familial hypercholesterolaemia: Screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217","volume":"37","author":"Benn","year":"2016","journal-title":"Eur. Heart J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nature13917","article-title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","volume":"518","author":"Do","year":"2015","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.1016\/j.jacc.2020.03.057","article-title":"Worldwide Prevalence of Familial Hypercholesterolemia","volume":"75","author":"Beheshti","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/eurheartj\/ehy462","article-title":"Fourth universal definition of myocardial infarction (2018)","volume":"40","author":"Thygesen","year":"2019","journal-title":"Eur. Heart J."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Collet, J.-P., Thiele, H., Barbato, E., Barth\u00e9l\u00e9my, O., Bauersachs, J., Bhatt, D.L., Dendale, P., Dorobantu, M., Edvardsen, T., and Folliguet, T. (2020). 2020 ESC Guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation. Eur. Heart J., ehaa575.","DOI":"10.15829\/1560-4071-2021-4418"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1706","DOI":"10.1056\/NEJM199306103282310","article-title":"Chest Pain with Normal Coronary Angiograms","volume":"328","author":"Cannon","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.atherosclerosis.2013.12.020","article-title":"Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers","volume":"233","author":"Besseling","year":"2014","journal-title":"Atherosclerosis"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2963","DOI":"10.1253\/circj.CJ-14-0628","article-title":"Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing","volume":"78","author":"Reguero","year":"2014","journal-title":"Circ. J."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e001584","DOI":"10.1161\/CIRCGENETICS.116.001584","article-title":"Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients","volume":"10","author":"Lorca","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"On behalf of the ACMG Laboratory Quality Assurance Committee, Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., and Lyon, E. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med., 17, 405\u2013423.","DOI":"10.1038\/gim.2015.30"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1097\/MOL.0000000000000388","article-title":"Genotype-guided diagnosis in familial hypercholesterolemia: Population burden and cascade screening","volume":"28","author":"Hopkins","year":"2017","journal-title":"Curr. Opin. Lipidol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia","volume":"67","author":"Khera","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"S18","DOI":"10.1016\/j.jacl.2011.03.451","article-title":"Treatment of adults with Familial Hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia","volume":"5","author":"Robinson","year":"2011","journal-title":"J. Clin. Lipidol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"71","DOI":"10.2147\/TACG.S202942","article-title":"High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease","volume":"12","author":"Pirazzi","year":"2019","journal-title":"Appl. Clin. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2438","DOI":"10.1093\/eurheartj\/ehv289","article-title":"Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes","volume":"36","author":"Nanchen","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1732","DOI":"10.1016\/j.jacc.2017.08.009","article-title":"Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome","volume":"70","author":"Castillo","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/clc.23154","article-title":"Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction","volume":"42","author":"Cui","year":"2019","journal-title":"Clin. Cardiol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.atherosclerosis.2015.04.809","article-title":"Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology","volume":"241","author":"Besseling","year":"2015","journal-title":"Atherosclerosis"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/S0022-2275(20)40754-0","article-title":"Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: A study based on diagnosis by polymerase chain reaction","volume":"34","author":"Koivisto","year":"1993","journal-title":"J. Lipid Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1016\/j.jacl.2016.08.013","article-title":"Identification of familial hypercholesterolemia in patients with myocardial infarction: A Chinese cohort study","volume":"10","author":"Li","year":"2016","journal-title":"J. Clin. Lipidol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.jacl.2015.07.005","article-title":"Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit","volume":"9","author":"Pang","year":"2015","journal-title":"J. Clin. Lipidol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ejim.2015.01.014","article-title":"Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction","volume":"26","author":"Wald","year":"2015","journal-title":"Eur. J. Intern. Med."},{"key":"ref_36","first-page":"174","article-title":"Suboptimal consideration and management of potential familial hypercholesterolaemia in patients with suspected premature coronary artery disease","volume":"53","author":"Yudi","year":"2012","journal-title":"Singap. Med. J."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1161\/CIR.0000000000000297","article-title":"The Agenda for Familial Hypercholesterolemia: A Scientific Statement from the American Heart Association","volume":"132","author":"Gidding","year":"2015","journal-title":"Circulation"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2551","DOI":"10.1093\/eurheartj\/ehs184","article-title":"Third universal definition of myocardial infarction","volume":"33","author":"Thygesen","year":"2012","journal-title":"Eur. Heart J."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/11\/3489\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:30:24Z","timestamp":1760178624000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/9\/11\/3489"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,29]]},"references-count":38,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2020,11]]}},"alternative-id":["jcm9113489"],"URL":"https:\/\/doi.org\/10.3390\/jcm9113489","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,29]]}}}