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

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art_SOUTO_Health_related_quality_of_life_in_individuals_at_2018.PDF (273.82 KB)
Citações na Scopus
5
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER IRELAND LTD
Autores
HAGGER, Martin
Citação
ATHEROSCLEROSIS, v.277, p.464-469, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Background 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.
Palavras-chave
Familial hypercholesterolemia, Cascade screening, Lowering-lipid therapy, Health related life quality, Self-reporting, Cardiovascular disease
URI
https://observatorio.fm.usp.br/handle/OPI/29381
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MCP
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - LIM/13
Artigos e Materiais de Revistas Científicas - ODS/03