Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil
© 2018 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)...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Journal Article |
| Published: |
Elsevier Ireland
2018
|
| Online Access: | http://hdl.handle.net/20.500.11937/68616 |
| _version_ | 1848761847392501760 |
|---|---|
| author | Souto, A. Miname, M. Fukushima, J. Jannes, C. Krieger, J. Hagger, Martin Pereira, A. Santos, R. |
| author_facet | Souto, A. Miname, M. Fukushima, J. Jannes, C. Krieger, J. Hagger, Martin Pereira, A. Santos, R. |
| author_sort | Souto, A. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | © 2018 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. |
| first_indexed | 2025-11-14T10:38:10Z |
| format | Journal Article |
| id | curtin-20.500.11937-68616 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T10:38:10Z |
| publishDate | 2018 |
| publisher | Elsevier Ireland |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-686162018-06-29T12:35:01Z Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil Souto, A. Miname, M. Fukushima, J. Jannes, C. Krieger, J. Hagger, Martin Pereira, A. Santos, R. © 2018 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. 2018 Journal Article http://hdl.handle.net/20.500.11937/68616 10.1016/j.atherosclerosis.2018.05.036 Elsevier Ireland restricted |
| spellingShingle | Souto, A. Miname, M. Fukushima, J. Jannes, C. Krieger, J. Hagger, Martin Pereira, A. Santos, R. Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title | Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title_full | Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title_fullStr | Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title_full_unstemmed | Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title_short | Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil |
| title_sort | health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in brazil |
| url | http://hdl.handle.net/20.500.11937/68616 |