Abstract

Objectives: This study describes health-related quality of life (HRQL) in a large sample of molecularly defined familial hypercholesterolemia (FH) patients compared with unaffected relatives. Study design and setting: Cross-sectional study of cases recruited in the Spanish FH cohort study. A total of 1947 subjects epsilon 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. Results: 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. Conclusions: 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.