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

• Published in: Atherosclerosis 2018-10, Vol.277, p.464-469
• Main Authors: Souto, Ana Cristina, Miname, Marcio H., Fukushima, Julia, Jannes, Cinthia E., Krieger, Jose E., Hagger, Martin, Pereira, Alexandre C., Santos, Raul D.
• Format: Article
• Language: English
• Subjects: Cardiovascular disease; Cascade screening; Familial hypercholesterolemia; Health related life quality; Lowering-lipid therapy; Self-reporting
• ISSN: 0021-9150; 1879-1484
• DOI: 10.1016/j.atherosclerosis.2018.05.036

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. 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. 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