{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:11:30Z","timestamp":1792120290923,"version":"4.4.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004505","name":"Universit\u00e0 di Catania","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004505","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","nmcd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Nutrition, Metabolism and Cardiovascular Diseases"],"published-print":{"date-parts":[[2018,1]]},"DOI":"10.1016\/j.numecd.2017.07.003","type":"journal-article","created":{"date-parts":[[2017,7,18]],"date-time":"2017-07-18T23:17:45Z","timestamp":1500419865000},"page":"35-43","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile"],"prefix":"10.1016","volume":"28","author":[{"given":"R.","family":"Scicali","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Di Pino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Platania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Purrazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Ferrara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Giannone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Urbano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Filippello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Rapisarda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Farruggia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Piro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.M.","family":"Rabuazzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Purrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.numecd.2017.07.003_bib1","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1093\/eurheartj\/eht015","article-title":"Diagnosis and treatment of familial hypercholesterolaemia","volume":"34","author":"Hovingh","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.numecd.2017.07.003_bib2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1161\/ATVBAHA.108.179564","article-title":"The LDL receptor","volume":"29","author":"Goldstein","year":"2009","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.numecd.2017.07.003_bib3","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1093\/aje\/kwh236","article-title":"Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review","volume":"160","author":"Austin","year":"2004","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.numecd.2017.07.003_bib4","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1126\/science.1060458","article-title":"Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein","volume":"292","author":"Garcia","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.numecd.2017.07.003_bib5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/10408363.2011.565585","article-title":"Familial hypercholesterolemia: epidemiology, neolithic origins and modern geographic distribution","volume":"48","author":"Liyanage","year":"2011","journal-title":"Crit Rev Clin Lab Sci"},{"key":"10.1016\/j.numecd.2017.07.003_bib6","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":"10.1016\/j.numecd.2017.07.003_bib7","first-page":"394","article-title":"Effectiveness of screening for known mutations in sicilian patients with \u201cprobable\u201d familial hypercholesterolemia","volume":"11","author":"Cefal\u00f9","year":"2001","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"10.1016\/j.numecd.2017.07.003_bib8","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":"10.1016\/j.numecd.2017.07.003_bib9","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":"De Backer","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib10","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.recesp.2014.01.016","article-title":"Screening for familial hypercholesterolemia: a model for preventive medicine","volume":"67","author":"Mata","year":"2014","journal-title":"Rev Espa\u00f1ola Cardiol Engl Ed"},{"key":"10.1016\/j.numecd.2017.07.003_bib11","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1258\/acb.2012.012002","article-title":"Opportunistic screening for familial hypercholesterolaemia via a community laboratory","volume":"49","author":"Bell","year":"2012","journal-title":"Ann Clin Biochem"},{"key":"10.1016\/j.numecd.2017.07.003_bib12","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ypmed.2004.05.032","article-title":"Evaluation of a multicomponent worksite health promotion program for cardiovascular risk factors-correcting for the regression towards the mean effect","volume":"40","author":"Prior","year":"2005","journal-title":"Prev Med Balt"},{"key":"10.1016\/j.numecd.2017.07.003_bib13","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1097\/MOL.0b013e3283556c33","article-title":"Identification of people with heterozygous familial hypercholesterolemia","volume":"23","author":"Haase","year":"2012","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.numecd.2017.07.003_bib14","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.atherosclerosis.2015.03.003","article-title":"Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in wales","volume":"240","author":"Haralambos","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib15","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/j.numecd.2014.01.013","article-title":"Lipid and liver abnormalities in haemoglobin A1c-defined prediabetes and type 2 diabetes","volume":"24","author":"Calanna","year":"2014","journal-title":"Nutr Metab Cardiovasc Dis"},{"key":"10.1016\/j.numecd.2017.07.003_bib16","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.2337\/dc13-2357","article-title":"Cardiovascular risk profile in subjects with prediabetes and new-onset type 2 diabetes identified by HbA1c according to American Diabetes Association criteria","volume":"37","author":"Di Pino","year":"2014","journal-title":"Diabetes Care"},{"key":"10.1016\/j.numecd.2017.07.003_bib17","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1136\/jmedgenet-2012-101189","article-title":"Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia","volume":"49","author":"Futema","year":"2012","journal-title":"J Med Genet"},{"key":"10.1016\/j.numecd.2017.07.003_bib18","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1469-1809.2008.00436.x","article-title":"Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database","volume":"72","author":"Leigh","year":"2008","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.numecd.2017.07.003_bib19","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.atherosclerosis.2015.09.021","article-title":"Familial hypercholesterolaemia: a\u00a0global\u00a0call to arms","volume":"243","author":"Vallejo-Vaz","year":"2015","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib20","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1097\/MOL.0000000000000398","article-title":"The role of registries and genetic databases in familial hypercholesterolemia","volume":"28","author":"Kindt","year":"2017","journal-title":"Curr Opin Lipidol"},{"key":"10.1016\/j.numecd.2017.07.003_bib21","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1016\/j.hlc.2014.07.062","article-title":"Optimising the detection and management of familial hypercholesterolaemia: central role of primary care and its integration with specialist services","volume":"23","author":"Vickery","year":"2014","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.numecd.2017.07.003_bib22","first-page":"71","article-title":"The LIPIGEN (LIPid transport disorders Italian Genetic Network) study","volume":"8","author":"Casula","year":"2017","journal-title":"G Ital dell'Arteriosclerosi"},{"issue":"4","key":"10.1016\/j.numecd.2017.07.003_bib23","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/joim.12263","article-title":"Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing","volume":"276","author":"Maglio","year":"2014","journal-title":"J Intern Med"},{"key":"10.1016\/j.numecd.2017.07.003_bib24","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.hlc.2014.09.011","article-title":"Systematic detection of familial hypercholesterolaemia in primary health care: a community based prospective study of three methods","volume":"24","author":"Kirke","year":"2015","journal-title":"Heart Lung Circ"},{"key":"10.1016\/j.numecd.2017.07.003_bib25","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.atherosclerosis.2016.08.037","article-title":"Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia","volume":"253","author":"Grenkowitz","year":"2016","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib26","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.atherosclerosis.2013.01.007","article-title":"Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy","volume":"227","author":"Bertolini","year":"2013","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib27","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1093\/hmg\/ddt573","article-title":"Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia","volume":"23","author":"Alves","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.numecd.2017.07.003_bib28","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1038\/gim.2013.55","article-title":"The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia","volume":"15","author":"Vandrovcova","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.numecd.2017.07.003_bib29","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":"10.1016\/j.numecd.2017.07.003_bib30","doi-asserted-by":"crossref","first-page":"3956","DOI":"10.1210\/jc.2012-1563","article-title":"Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication","volume":"97","author":"Benn","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.numecd.2017.07.003_bib31","doi-asserted-by":"crossref","first-page":"e0121516","DOI":"10.1371\/journal.pone.0121516","article-title":"Elevated atherosclerosis-related gene expression, monocyte activation and microparticle-release are related to increased lipoprotein-associated oxidative stress in familial hypercholesterolemia","volume":"10","author":"Hjuler Nielsen","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.numecd.2017.07.003_bib32","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.5551\/jat.9795","article-title":"Heterozygous familial hypercholesterolaemic patients have increased arterial stiffness, as determined using the augmentation index","volume":"18","author":"Plana","year":"2011","journal-title":"J Atheroscler Thromb"},{"key":"10.1016\/j.numecd.2017.07.003_bib33","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.atherosclerosis.2009.07.058","article-title":"Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia","volume":"208","author":"Junyent","year":"2010","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.numecd.2017.07.003_bib34","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/heartjnl-2012-302917","article-title":"Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia","volume":"99","author":"Clarke","year":"2013","journal-title":"Heart"},{"key":"10.1016\/j.numecd.2017.07.003_bib35","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1476-511X-7-7","article-title":"Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia","volume":"7","author":"Zech","year":"2008","journal-title":"Lipids Health Dis"},{"key":"10.1016\/j.numecd.2017.07.003_bib36","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1097\/00003226-199303000-00009","article-title":"Association of corneal arcus with ultrasonographically assessed arterial wall thickness and serum lipids","volume":"12","author":"Rouhiainen","year":"1993","journal-title":"Cornea"},{"key":"10.1016\/j.numecd.2017.07.003_bib37","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1161\/ATVBAHA.115.306665","article-title":"Association between cholesterol efflux capacity and atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia","volume":"36","author":"Ogura","year":"2016","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.numecd.2017.07.003_bib38","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.amjcard.2008.08.030","article-title":"Relation of corneal arcus to cardiovascular disease (from the Framingham Heart Study data set)","volume":"103","author":"Fernandez","year":"2009","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.numecd.2017.07.003_bib39","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.jacl.2017.03.016","article-title":"Early coronary calcifications are related to cholesterol burden in heterozygous familial hypercholesterolemia","volume":"11","author":"Gallo","year":"2017","journal-title":"J Clin Lipidol"}],"container-title":["Nutrition, Metabolism and Cardiovascular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0939475317301576?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0939475317301576?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T16:43:41Z","timestamp":1668703421000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0939475317301576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["S0939475317301576"],"URL":"https:\/\/doi.org\/10.1016\/j.numecd.2017.07.003","relation":{},"ISSN":["0939-4753"],"issn-type":[{"value":"0939-4753","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile","name":"articletitle","label":"Article Title"},{"value":"Nutrition, Metabolism and Cardiovascular Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.numecd.2017.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}