Quality of life in a cohort of familial hypercholesterolemia patients from the south of Europe

Abstract

This study describes health-related quality of life (HRQL) in a large sample of molecularly defined familial hypercholesterolemia (FH) patients compared with unaffected relatives. Cross-sectional study of cases recruited in the Spanish FH cohort study. A total of 1947 subjects ≥18 years were included-1321 FH and 626 unaffected relatives. HRQL was assessed by 12-Item Short-Form Health Survey questionnaire. Main outcomes were as follows: Self-perceived health, physical summary component, mental summary component and their independent covariates. Mean age was 45.3 years in FH subjects and 40.4 years in control subjects (P < 0.001). Cardiovascular disease (CVD) was present in 14.1% of FH patients and in 3.2% of control subjects (P < 0.001). Frequency of optimal self-perceived health, mean physical summary component and mental summary component of FH patients (81.5%, 52.1 and 51.1, respectively), were similar to those of control subjects (83.1%, 53.1 and 51.1, respectively). Factors independently associated with a worse HRQL in FH patients were as follows: CVD, female gender, older age, depression, obesity, lower educational level, lower physical activity and xanthomas. HRQL of FH patients was similar to control subjects, despite their higher burden of premature CVD. The most important factors with a negative impact in quality of life in FH are CVD, female gender and older age.