Objectives: The Social Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe (BURQOL-RD, http://www.burqol-rd.com/) project aimed to investigate disease burden and self-percieved health outcomes of patients and their caregivers in rare diseases in eight EU countries (Bulgaria, France, Germany, Hungary, Italy, Sweden, Spain, UK). Methods: An online questionnaire survey was developed for patients (adults/children) and caregivers. Patients were recruited by patient organisations in cystic fibrosis (CF), Prader-Willi syndrome (PWS), haemophilia (HEMO), Duchenne muscular dystrophy (DMD), epidermolysis bullosa (EB), fragile X syndrome (FXS), scleroderma (SCL), mucopolysaccharidosis (MPS), juvenile idiopathic arthritis (JIA) and histiocytosis (HIS). Demography amd main characteristics were recorded. Patients' and caregivers' health state was assessed by the EQ-5D-5L, disability and caregivers' burden by the Barthel Index and Zarit Burden Interview questionnaires. Results: In Hungary, 296 Hungarian patients (children: 161, 54%) participated in the study (CF 110, PWS 5, HEMO 58, DMD 57, EB 6, FXS 12, SCL 38 and MPS 10 patients), no data were obtained in JIA and HIS. Mean age among adults/children was 37.0 (SD 16.1) / 9.6 (SD= 4.5) years, and disease duration was 18.5 (SD= 14.4) / 7.1 (SD= 4.5) years, respectively. The lowest average EQ-5D-5L score was found in MPS (0.134 / 0.070) and DMD (0.310 / 0.198) just alike with the Barthel Index (MPS: 35.6; DMD 58.0). Caregivers' (N= 95) mean age was 39.2 (SD= 8.0) years and their EQ-5D-5L score (0.797, SD= 0.251) was not significantly different from the general populations' average. Satisfaction with health care (1-10 Likert scale) was the lowest in MPS, DMD and EB (mean 4.1, 5.2 and 4.3). Conclusions: Rare diseases induce substantial deterioration of patients' quality of life and impose burden on caregivers. Taking an integrated approach our results can serve for international comparisons and facilitate further investigations in other orphan diseases.
Péntek, M., Baji, P., Pogány, G., Brodszky, V., Boncz, I., & Gulácsi, L. (2014). Health Related Quality of Life of Patients and Their Caregivers In Rare Diseases Results of the Burqol-Rd Project In Hungary. Value in Health, 17(7), A538. https://doi.org/10.1016/j.jval.2014.08.1724