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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.accessioned2019-07-04T12:42:20Z
dc.date.available2019-07-04T12:42:20Z
dc.date.issued2018
dc.identifier.issn0021-9150
dc.identifier.doi10.1016/j.atherosclerosis.2018.05.036
dc.identifier.urihttp://hdl.handle.net/10072/381707
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 (IC+) and without (IC-) identified mutations (n = 93 and n = 175, respectively), and affected (FDR+, n = 231) and non-affected (FDR-, n = 159) FDR of IC+. 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 non-affected counterparts. Previous MACE and co-morbidities are associated with reduced HRQoL.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.publisher.placeIreland
dc.relation.ispartofpagefrom464
dc.relation.ispartofpageto469
dc.relation.ispartofjournalAtherosclerosis
dc.relation.ispartofvolume277
dc.subject.fieldofresearchCardiorespiratory Medicine and Haematology not elsewhere classified
dc.subject.fieldofresearchCardiorespiratory Medicine and Haematology
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchcode110299
dc.subject.fieldofresearchcode1102
dc.subject.fieldofresearchcode1103
dc.subject.keywordsFamilial hypercholesterolemia
dc.subject.keywordsCascade screening
dc.subject.keywordsLowering-lipid therapy
dc.subject.keywordsHealth related life quality
dc.subject.keywordsSelf-reporting
dc.subject.keywordsCardiovascular disease
dc.titleHealth related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://creativecommons.org/licenses/by-nc-nd/4.0/
gro.rights.copyright© 2018 Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Licence (http://creativecommons.org/licenses/by-nc-nd/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.
gro.hasfulltextFull Text
gro.griffith.authorHagger, Martin S.


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