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Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries

2017-01Journal article Restricted access
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dc.contributor.authorSantos, R.D.
dc.contributor.authorBourbon, M.
dc.contributor.authorAlonso, R.
dc.contributor.authorCuevas, A.
dc.contributor.authorVasques-Cardenas, N.A.
dc.contributor.authorPereira, A.C.
dc.contributor.authorMerchan, A.
dc.contributor.authorAlves, A.C.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorJannes, C.E.
dc.contributor.authorKrieger, J.E.
dc.contributor.authorSchreier, L.
dc.contributor.authorPerez de Isla, L.
dc.contributor.authorMagaña-Torres, M.T.
dc.contributor.authorStoll, M.
dc.contributor.authorMata, N.
dc.contributor.authorDell Oca, N.
dc.contributor.authorCorral, P.
dc.contributor.authorAsenjo, S.
dc.contributor.authorBañares, V.G.
dc.contributor.authorReyes, X.
dc.contributor.authorMata, P.
dc.contributor.authorIbero-American Familial Hypercholesterolemia Network
dc.date.accessioned2017-11-03T16:35:53Z
dc.date.available2021-11-24T01:30:15Z
dc.date.issued2017-01
dc.description.abstractBACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Lipidol. 2017 Jan - Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23.pt_PT
dc.identifier.doi10.1016/j.jacl.2016.11.004pt_PT
dc.identifier.issn1933-2874
dc.identifier.urihttp://hdl.handle.net/10400.18/4816
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S1933287416304196pt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectAtherosclerosispt_PT
dc.subjectCholesterolpt_PT
dc.subjectCascade Screeningpt_PT
dc.subjectMolecular Diagnosispt_PT
dc.subjectIbero-American Countriespt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleClinical and molecular aspects of familial hypercholesterolemia in Ibero-American countriespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage166pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage160pt_PT
oaire.citation.titleJournal of Clinical Lipidologypt_PT
oaire.citation.volume11pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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