دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil.
المؤلفون: Souto AC; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Miname MH; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Fukushima J; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Jannes CE; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Krieger JE; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Hagger M; Faculty of Sport and Health Sciences, University of Jyva ¨skyla, Finland; School of Psychology, Curtin University, Australia; School of Applied Psychology, Griffith University, Australia., Pereira AC; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil., Santos RD; Heart Institute (InCor) University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil; Hospital Israelita Albert Einstein, Sao Paulo, Brazil. Electronic address: rdsf@uol.com.br.
المصدر: Atherosclerosis [Atherosclerosis] 2018 Oct; Vol. 277, pp. 464-469.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print Cited Medium: Internet ISSN: 1879-1484 (Electronic) Linking ISSN: 00219150 NLM ISO Abbreviation: Atherosclerosis Subsets: MEDLINE
أسماء مطبوعة: Publication: Limerick : Elsevier
Original Publication: Amsterdam, Elsevier.
مواضيع طبية MeSH: Mutation* , Quality of Life*, Cholesterol, LDL/*blood , Genetic Testing/*methods , Hyperlipoproteinemia Type II/*diagnosis , Hyperlipoproteinemia Type II/*genetics, Adult ; Anticholesteremic Agents/therapeutic use ; Biomarkers/blood ; Brazil ; Comorbidity ; Cross-Sectional Studies ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Heredity ; Humans ; Hyperlipoproteinemia Type II/blood ; Hyperlipoproteinemia Type II/drug therapy ; Male ; Middle Aged ; Pedigree ; Phenotype ; Predictive Value of Tests ; Risk Assessment ; Risk Factors ; Surveys and Questionnaires ; Treatment Outcome
مستخلص: 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 (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.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: Cardiovascular disease; Cascade screening; Familial hypercholesterolemia; Health related life quality; Lowering-lipid therapy; Self-reporting
المشرفين على المادة: 0 (Anticholesteremic Agents)
0 (Biomarkers)
0 (Cholesterol, LDL)
0 (Genetic Markers)
تواريخ الأحداث: Date Created: 20181002 Date Completed: 20191101 Latest Revision: 20191101
رمز التحديث: 20221213
DOI: 10.1016/j.atherosclerosis.2018.05.036
PMID: 30270086
قاعدة البيانات: MEDLINE
الوصف
تدمد:1879-1484
DOI:10.1016/j.atherosclerosis.2018.05.036