Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/30031
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dc.contributor.authorSánchez Hernández, Rosa Maríaen_US
dc.contributor.authorPrieto-Matos, P.en_US
dc.contributor.authorCiveira, Fernandoen_US
dc.contributor.authorEsteve Lafuente, E.en_US
dc.contributor.authorFrías Vargas, M.en_US
dc.contributor.authorReal, José T.en_US
dc.contributor.authorGoñi Goicoechea, F.en_US
dc.contributor.authorFuentes, F. J.en_US
dc.contributor.authorPocovi, M.en_US
dc.contributor.authorBoronat, Mauroen_US
dc.contributor.authorWägner, Ana Maríaen_US
dc.contributor.authorMasana, L.en_US
dc.date.accessioned2018-02-20T11:39:20Z-
dc.date.available2018-02-20T11:39:20Z-
dc.date.issued2018en_US
dc.identifier.issn0021-9150en_US
dc.identifier.urihttp://hdl.handle.net/10553/30031-
dc.description.abstractBackground and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. Methods Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed. Results Seven patients with ARH were identified, 6 true homozygous and one compound heterozygous with a novel mutation: c.[863C > T];p.[Ser288Leu] . High genetic heterogeneity was found in this cohort. True homozygous subjects for LDLRAP1 have more severe phenotypes than the compound heterozygous patient, but similar to patients with homozygous familial hypercholesterolemia (HoFH). Cardiovascular disease was present in 14% of the ARH patients. LDL-C under treatment was above 185 mg/dl and the response to PCSK9 inhibitors was heterogeneous. Finally, the estimated prevalence in Spain is very low, with just 1 case per 6.5 million people. Conclusions ARH is a very rare disease in Spain, showing high genetic heterogeneity, similarly high LDL-C concentrations, but lower incidence of ASCVD than HoFH.en_US
dc.languageengen_US
dc.relation.ispartofAtherosclerosisen_US
dc.sourceAtherosclerosis[ISSN 0021-9150],v. 269, p. 1-5en_US
dc.subject32 Ciencias médicasen_US
dc.subject3205 Medicina interna-
dc.subject320502 Endocrinología-
dc.subject.otherAutosomal recessive hypercholesterolemiaen_US
dc.subject.otherFamilial hypercholesterolemiaen_US
dc.subject.otherLDLRAP1en_US
dc.titleAutosomal recessive hypercholesterolemia in Spainen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.atherosclerosis.2017.12.006
dc.identifier.scopus85037689213
dc.identifier.isi000424848800001-
dc.identifier.urlhttp://api.elsevier.com/content/abstract/scopus_id/85037689213-
dc.contributor.authorscopusid57203232814
dc.contributor.authorscopusid36710536600
dc.contributor.authorscopusid35517335700
dc.contributor.authorscopusid57199206781
dc.contributor.authorscopusid57199225913
dc.contributor.authorscopusid57190234986
dc.contributor.authorscopusid57199227707
dc.contributor.authorscopusid55650129500
dc.contributor.authorscopusid7005256919
dc.contributor.authorscopusid7003952293
dc.contributor.authorscopusid7401456520
dc.contributor.authorscopusid13805771600
dc.description.lastpage5-
dc.description.firstpage1-
dc.relation.volume269-
dc.investigacionCiencias de la Saluden_US
dc.source.typearen
dc.type2Artículoen_US
dc.identifier.wosWOS:000424848800001-
dc.contributor.daisngid3549698
dc.contributor.daisngid4365886
dc.contributor.daisngid89578
dc.contributor.daisngid10264525
dc.contributor.daisngid30381921
dc.contributor.daisngid205804
dc.contributor.daisngid8942090
dc.contributor.daisngid103589
dc.contributor.daisngid93666
dc.contributor.daisngid673494
dc.contributor.daisngid450201
dc.contributor.daisngid44898
dc.contributor.wosstandardWOS:Sanchez-Hernandez, RM
dc.contributor.wosstandardWOS:Prieto-Matos, P
dc.contributor.wosstandardWOS:Civeira, F
dc.contributor.wosstandardWOS:Lafuente, EE
dc.contributor.wosstandardWOS:Vargas, MF
dc.contributor.wosstandardWOS:Real, JT
dc.contributor.wosstandardWOS:Goicoechea, FG
dc.contributor.wosstandardWOS:Fuentes, FJ
dc.contributor.wosstandardWOS:Pocovi, M
dc.contributor.wosstandardWOS:Boronat, M
dc.contributor.wosstandardWOS:Wagner, AM
dc.contributor.wosstandardWOS:Masana, L
dc.date.coverdateFebrero 2018
dc.identifier.ulpgces
dc.description.sjr1,748
dc.description.jcr4,255
dc.description.sjrqQ1
dc.description.jcrqQ1
dc.description.scieSCIE
item.fulltextSin texto completo-
item.grantfulltextnone-
crisitem.author.deptGIR Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.deptGIR Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.orcid0000-0003-4991-7445-
crisitem.author.orcid0000-0001-8535-8543-
crisitem.author.orcid0000-0002-7663-9308-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameSánchez Hernández, Rosa María-
crisitem.author.fullNameBoronat Cortés, Mauro-
crisitem.author.fullNameWägner, Anna Maria Claudia-
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