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Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica

2020-10-06Journal article Open access
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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorAlonso, Rodrigo
dc.contributor.authorDiaz-Diaz, José Luís
dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorJannes, Cinthia E.
dc.contributor.authorMerchan, Alonso
dc.contributor.authorVasques-Cardenas, Norma A.
dc.contributor.authorCuevas, Ada
dc.contributor.authorChacra, Ana Paula
dc.contributor.authorKrieger, Jose E.
dc.contributor.authorArroyo, Raquel
dc.contributor.authorArrieta, Francisco
dc.contributor.authorSchreier, Laura
dc.contributor.authorCorral, Pablo
dc.contributor.authorBañares, Virginia G.
dc.contributor.authorAraujo, Maria B.
dc.contributor.authorBustos, Paula
dc.contributor.authorAsenjo, Sylvia
dc.contributor.authorStoll, Mario
dc.contributor.authorDell'Oca, Nicolás
dc.contributor.authorReyes, Maria
dc.contributor.authorRessia, Andrés
dc.contributor.authorCampo, Rafael
dc.contributor.authorMagaña-Torres, Maria T
dc.contributor.authorMetha, Roopa
dc.contributor.authorAguilar-Salinas, Carlos A
dc.contributor.authorCeballos-Macias, José J
dc.contributor.authorMorales, Álvaro J Ruiz
dc.contributor.authorMata, Pedro
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorSantos, Raul D
dc.date.accessioned2020-10-27T18:21:13Z
dc.date.available2020-10-27T18:21:13Z
dc.date.issued2020-10-06
dc.description.abstractObjective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3±15.8 years, 38.0% males), and 63 children (age 8.8±4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in the LDLR. True HoFH due to LDLR variants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults with LDLR variants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type of LDLR variant. From 118 subjects with LDLR variants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2 LDLR variants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). Conclusions: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.pt_PT
dc.description.sponsorshipR.D. Santos is a recipient of a scholarship from the Conselho Nacional de Pesquisa e Desenvolvimento Tecnologico (CNPq) process No. 303734/2018-3.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationArterioscler Thromb Vasc Biol. 2020 Oct;40(10):2508-2515. doi: 10.1161/ATVBAHA.120.313722. Epub 2020 Aug 6.pt_PT
dc.identifier.doi10.1161/ATVBAHA.120.313722pt_PT
dc.identifier.issn1079-5642
dc.identifier.urihttp://hdl.handle.net/10400.18/7220
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherAmerican Heart Associationpt_PT
dc.relation.publisherversionhttps://www.ahajournals.org/doi/epub/10.1161/ATVBAHA.120.313722pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAtherosclerosispt_PT
dc.subjectCardiovascular Diseasept_PT
dc.subjectCholesterolpt_PT
dc.subjectHypercholesterolemiapt_PT
dc.subjectPhenotypept_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectIberoamericapt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titlePhenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamericapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2515pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPage2508pt_PT
oaire.citation.titleArteriosclerosis, Thrombosis, and Vascular Biologypt_PT
oaire.citation.volume40pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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