000130289 001__ 130289
000130289 005__ 20240124152850.0
000130289 0247_ $$2doi$$a10.1161/CIRCGENETICS.116.001545
000130289 0248_ $$2sideral$$a97910
000130289 037__ $$aART-2016-97910
000130289 041__ $$aeng
000130289 100__ $$aSánchez-Hernández, R. M.
000130289 245__ $$aHomozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship
000130289 260__ $$c2016
000130289 5203_ $$aBackground-Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. Methods and Results-Data were collected from the Spanish Dyslipidemia Registry of the Spanish Atherosclerosis Society and from all molecular diagnoses performed for familial hypercholesterolemia in Spain between 1996 and 2015 (n=16 751). Clinical data included baseline lipid levels and atherosclerotic cardiovascular disease events. A total of 97 subjects were identified as having HoFH-of whom, 47 were true homozygous (1 for APOB, 5 for LDLRAP1, and 41 for LDLR), 45 compound heterozygous for LDLR, 3 double heterozygous for LDLR and PSCK9, and 2 double heterozygous for LDLR and APOB. No PSCK9 homozygous cases were identified. Two variants in LDLR were identified in 4.8% of the molecular studies. Over 50% of patients did not meet the classical HoFH diagnosis criteria. The estimated HoFH prevalence was 1:450 000. Compared with compound heterozygous cases, true homozygous cases showed more aggressive phenotypes with higher LDL-C and more atherosclerotic cardiovascular disease events. Conclusions-HoFH frequency in Spain was higher than expected. Clinical criteria would underestimate the actual prevalence of individuals with genetic HoFH, highlighting the importance of genetic analysis to improve familial hypercholesterolemia diagnosis accuracy.
000130289 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/PI14-01648$$9info:eu-repo/grantAgreement/ES/ISCIII/RD12-0042-0055$$9info:eu-repo/grantAgreement/ES/MINECO/INNPACTO-IPT-2011–0817$$9info:eu-repo/grantAgreement/ES/MINECO/PI12-01087$$9info:eu-repo/grantAgreement/ES/MINECO/PI12-01703
000130289 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000130289 590__ $$a4.743$$b2016
000130289 591__ $$aGENETICS & HEREDITY$$b26 / 165 = 0.158$$c2016$$dQ1$$eT1
000130289 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b30 / 126 = 0.238$$c2016$$dQ1$$eT1
000130289 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130289 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000130289 700__ $$aStef, M.
000130289 700__ $$0(orcid)0000-0002-1894-1621$$aPerez-Calahorra, S.
000130289 700__ $$aAlmagro, F.
000130289 700__ $$aPlana, N.
000130289 700__ $$aNovoa, F. J.
000130289 700__ $$aSáenz-Aranzubía, P.
000130289 700__ $$aMosquera, D.
000130289 700__ $$aSoler, C.
000130289 700__ $$aFuentes, F. J.
000130289 700__ $$aBrito-Casillas, Y.
000130289 700__ $$aReal, J. T.
000130289 700__ $$aBlanco-Vaca, F.
000130289 700__ $$aAscaso, J. F.
000130289 700__ $$0(orcid)0000-0001-8807-9187$$aPocovi, M.$$uUniversidad de Zaragoza
000130289 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000130289 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130289 773__ $$g9, 6 (2016), 504-510$$pCirc., Cardiovasc. genet.$$tCirculation-Cardiovascular Genetics$$x1942-325X
000130289 8564_ $$s419491$$uhttps://zaguan.unizar.es/record/130289/files/texto_completo.pdf$$yVersión publicada
000130289 8564_ $$s3132562$$uhttps://zaguan.unizar.es/record/130289/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130289 909CO $$ooai:zaguan.unizar.es:130289$$particulos$$pdriver
000130289 951__ $$a2024-01-24-15:00:18
000130289 980__ $$aARTICLE