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Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela

2017-10Journal article Restricted access
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dc.contributor.authorLima-Martínez, M.M.
dc.contributor.authorPaoli, M.
dc.contributor.authorVázquez-Cárdenas, A.
dc.contributor.authorMagaña-Torres, M.T.
dc.contributor.authorGuevara, O.
dc.contributor.authorMuñoz, M.C.
dc.contributor.authorParrilla-Alvarez, A.
dc.contributor.authorMárquez, Y.
dc.contributor.authorMedeiros, A.
dc.contributor.authorBourbon, M.
dc.date.accessioned2017-10-26T14:25:46Z
dc.date.available2018-10-01T00:30:12Z
dc.date.issued2017-10
dc.descriptionArticle in English, Spanishpt_PT
dc.description.abstractOBJECTIVE: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes. RESULTS: Ten (0.32%) of the 3,140 study patients had clinical and biochemical characteristics consistent with FH. All but one were female. Three had first-degree relatives with prior premature coronary artery; and none had a personal history of this condition. Three patients were obese; three had high blood pressure; and no one suffered from diabetes. Three patients had a history of tendon xanthomas, and one of corneal arcus. LDL-C levels ranged from 191 to 486mg/dL. Two patients were on statin therapy. The genetic causes of FH were identified in four patients, and were LDLR gene mutations in three of them and an APOB gene mutation in exon 26 in the other. CONCLUSION: Approximately, one out of every 300 people attending this endocrinology unit in those four years had FH, and LDLR gene mutations were the most prevalent cause.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationEndocrinol Diabetes Nutr. 2017 Oct;64(8):432-439. doi: 10.1016/j.endinu.2017.05.007. Epub 2017 Jul 4pt_PT
dc.identifier.doi10.1016/j.endinu.2017.05.007pt_PT
dc.identifier.issn2530-0180
dc.identifier.urihttp://hdl.handle.net/10400.18/4799
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier Espana/ Sociedad Española de Endocrinología y Nutriciónpt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S2530016417301611?via%3Dihubpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectEndocrinologypt_PT
dc.subjectCholesterolpt_PT
dc.subjectXanthomaspt_PT
dc.subjectVenezuelapt_PT
dc.subjectHipercolesterolemia Familiarpt_PT
dc.subjectEndocrinologíapt_PT
dc.subjectColesterolpt_PT
dc.subjectXantomaspt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFrequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuelapt_PT
dc.title.alternativeFrecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuelapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage439pt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage432pt_PT
oaire.citation.titleEndocrinología, Diabetes y Nutriciónpt_PT
oaire.citation.volume64pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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