Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSOUTO, Ana Cristina
dc.contributor.authorMINAME, Marcio H.
dc.contributor.authorFUKUSHIMA, Julia
dc.contributor.authorJANNES, Cinthia E.
dc.contributor.authorKRIEGER, Jose E.
dc.contributor.authorHAGGER, Martin
dc.contributor.authorPEREIRA, Alexandre C.
dc.contributor.authorSANTOS, Raul D.
dc.date.accessioned2018-11-21T17:00:32Z
dc.date.available2018-11-21T17:00:32Z
dc.date.issued2018
dc.description.abstractBackground and aims: Familial hypercholesterolemia (FH) is a genetic disorder associated with high risk of early major cardiovascular events (MACE) that can impact the health related quality of life (HRQoL), however, this association is unclear. This study evaluated HRQoL in index cases (IC) and first-degree relatives (FDR) of individuals at high risk of FH undergoing genetic cascade screening. Methods: Data collection was performed before awareness of molecular diagnosis results. Individuals were divided into four groups according to the molecular diagnosis: IC with (ICthorn) and without (IC-) identified mutations (n = 93 and n = 175, respectively), and affected (FDRthorn, n = 231) and non-affected (FDR-, n = 159) FDR of ICthorn. HRQoL measurements, mental (MCS) and physical component (PCS) scores were carried out with SF-12 questionnaire. Associations were tested by generalized linear models. Results: The mean age was 49 +/- 15 years, 42.2% were men, MACE had occurred in 30.7%. Overall, both PCS and MCS did not differ between FH and non-FH individuals, however, IC trended to have lower PCS independent of FH presence (p = 0.003). Lower PCS were associated with female sex (p = 0.018), lower education (p < 0.001), professional inactivity (p = 0.028), previous MACE occurrence (p < 0.001), hypertension (p = 0.016), depression (p < 0.001) and obesity (p < 0.001). Lower MCS were associated with female sex (p = 0.009), previous MACE occurrence (p = 0.034), depression (p < 0.001) and smoking (p = 0.009). Neither the presence of FH causing mutations nor pharmacological lipid lowering treatment was associated with HRQoL. Conclusions: HRQoL is not reduced in both IC and FDR FH individuals in comparison with their nonaffected counterparts. Previous MACE and co-morbidities are associated with reduced HRQoL.
dc.description.indexMEDLINE
dc.identifier.citationATHEROSCLEROSIS, v.277, p.464-469, 2018
dc.identifier.doi10.1016/j.atherosclerosis.2018.05.036
dc.identifier.eissn1879-1484
dc.identifier.issn0021-9150
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/29381
dc.language.isoeng
dc.publisherELSEVIER IRELAND LTD
dc.relation.ispartofAtherosclerosis
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER IRELAND LTD
dc.subjectFamilial hypercholesterolemia
dc.subjectCascade screening
dc.subjectLowering-lipid therapy
dc.subjectHealth related life quality
dc.subjectSelf-reporting
dc.subjectCardiovascular disease
dc.subject.othercardiovascular-disease
dc.subject.otherassociation
dc.subject.otherprogram
dc.subject.wosCardiac & Cardiovascular Systems
dc.subject.wosPeripheral Vascular Disease
dc.titleHealth related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryAustrália
hcfmusp.affiliation.countryisoau
hcfmusp.author.externalHAGGER, Martin:Univ Jyvaskyla, Fac Sport & Hlth Sci, Jyvaskyla, Finland; Curtin Univ, Sch Psychol, Perth, WA, Australia; Griffith Univ, Sch Appl Psychol, Nathan, Qld, Australia
hcfmusp.citation.scopus5
hcfmusp.contributor.author-fmusphcANA CRISTINA CARNEIRO FERNANDES SOUTO
hcfmusp.contributor.author-fmusphcMARCIO HIROSHI MINAME
hcfmusp.contributor.author-fmusphcJULIA TIZUE FUKUSHIMA
hcfmusp.contributor.author-fmusphcCINTHIA ELIM JANNES LEPSKI
hcfmusp.contributor.author-fmusphcJOSE EDUARDO KRIEGER
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcRAUL DIAS DOS SANTOS FILHO
hcfmusp.description.beginpage464
hcfmusp.description.endpage469
hcfmusp.description.volume277
hcfmusp.origemWOS
hcfmusp.origem.pubmed30270086
hcfmusp.origem.scopus2-s2.0-85047863843
hcfmusp.origem.wosWOS:000445908000069
hcfmusp.publisher.cityCLARE
hcfmusp.publisher.countryIRELAND
hcfmusp.relation.referenceBesseling J, 2016, J AM COLL CARDIOL, V68, P252, DOI 10.1016/j.jacc.2016.04.054
hcfmusp.relation.referenceCohen JS, 2010, AM J MED GENET A, V152A, P1136, DOI 10.1002/ajmg.a.33380
hcfmusp.relation.referencede Abreu MM, 2011, VALUE HEALTH, V14, pS119, DOI 10.1016/j.jval.2011.05.016
hcfmusp.relation.referenceGidding SS, 2015, CIRCULATION, V132, P2167, DOI 10.1161/CIR.0000000000000297
hcfmusp.relation.referenceGupta A, 2017, LANCET, V389, P2473, DOI 10.1016/S0140-6736(17)31075-9
hcfmusp.relation.referenceHagger MS, 2016, INT J BEHAV MED, V23, P282, DOI 10.1007/s12529-015-9531-x
hcfmusp.relation.referenceHollman G, 2002, J INTERN MED, V251, P331, DOI 10.1046/j.1365-2796.2002.00963.x
hcfmusp.relation.referenceHyttinen L, 2008, INT J TECHNOL ASSESS, V24, P228, DOI 10.1017/S0266462308080318
hcfmusp.relation.referenceJannes CE, 2015, ATHEROSCLEROSIS, V238, P101, DOI 10.1016/j.atherosclerosis.2014.11.009
hcfmusp.relation.referenceKhera AV, 2016, J AM COLL CARDIOL, V67, P2578, DOI 10.1016/j.jacc.2016.03.520
hcfmusp.relation.referenceMata N, 2014, EUR J PUBLIC HEALTH, V24, P221, DOI 10.1093/eurpub/cks174
hcfmusp.relation.referenceMcGorrian C, 2013, BMC MED GENET, V14, DOI 10.1186/1471-2350-14-1
hcfmusp.relation.referenceMortensen GL, 2016, DAN MED J, V63
hcfmusp.relation.referenceNordestgaard BG, 2013, EUR HEART J, V34, P3478, DOI 10.1093/eurheartj/eht273
hcfmusp.relation.referencePiepoli MF, 2016, ATHEROSCLEROSIS, V252, P207, DOI 10.1016/j.atherosclerosis.2016.05.037
hcfmusp.relation.referenceSantos RD, 2017, EUR J PREV CARDIOL, V24, P1878, DOI 10.1177/2047487317735721
hcfmusp.relation.referenceSantos RD, 2015, J ATHEROSCLER THROMB, V22, P869, DOI 10.5551/jat.31237
hcfmusp.relation.referenceSenior V, 1999, SOC SCI MED, V48, P1857, DOI 10.1016/S0277-9536(99)00099-4
hcfmusp.relation.referenceSilveira MF, 2013, CIENC SAUDE COLETIVA, V18, P1923, DOI 10.1590/S1413-81232013000700007
hcfmusp.relation.referenceTaylor F, 2013, COCHRANE DB SYST REV, DOI 10.1002/14651858.CD004816.pub5
hcfmusp.relation.referencevan Maarle M C, 2003, J Med Genet, V40, pe3, DOI 10.1136/jmg.40.1.e3
hcfmusp.relation.referencevan Maarle MC, 2003, AM J MED GENET A, V116A, P136, DOI 10.1002/ajmg.a.10061
hcfmusp.relation.referenceWatts GF, 2017, EUR J PREV CARDIOL, V24, P1729, DOI 10.1177/2047487317721656
hcfmusp.scopus.lastupdate2024-05-11
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