Health-related quality of life in recessive dystrophic epidermolysis bullosa: findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).

backgroundChronic disease, including different forms of epidermolysis bullosa (EB), may significantly impair health-related quality of life (HRQoL). To date, HRQoL in specific subtypes of recessive dystrophic EB (RDEB) has not been studied in depth.

objectivesTo measure HRQoL in a large cohort of individuals with different RDEB subtypes, to explore differences in physical functioning and emotional/psychosocial health scores, and to identify potential correlation with disease severity.

methodsThe Prospective EB Longitudinal Evaluation Study (PEBLES) is a register study of children and adults with RDEB. Reviews are repeated every 6 months (under 10 years) or annually (10 years and above) with HRQoL assessed using the Quality of Life in Epidermolysis Bullosa (QOLEB), an EB-specific questionnaire, for adult participants and the Pediatric Quality of Life Inventory (PedsQL) generic core scales, version 4.0, for child participants and their parents. Disease severity was measured with the Birmingham EB Severity score (BEBS) and the Instrument for Scoring Clinical Outcomes for EB (iscorEB).

resultsHRQoL was reported in 335 reviews over a maximum of seven years by 61 participants: severe RDEB (RDEB-S) n = 26, intermediate (RDEB-I) n = 21, inversa (RDEB-Inv) n = 9, pruriginosa (RDEB-Pru) n = 4 and pretibial RDEB n = 1. QOLEB demonstrated a severe impact on HRQoL for all RDEB adults (n = 47), particularly for RDEB-Pru and RDEB-S participants. Total and functioning QOLEB scores correlated with disease severity scores (iscorEB, BEBS) for all RDEB, with a statistically higher impact in RDEB-S compared to RDEB-I and RDEB-Inv. In children (n = 14), those with greater disease severity measured by iscorEB also reported worse HRQoL (PedsQL). In adults and children, physical functioning/health QoL was more severely impacted than emotions/psychosocial health, and HRQoL generally improved with age.

conclusionOur results highlight a significant impact on HRQoL in adults and children with all types of RDEB which generally correlates with disease severity. Relatively less impact on emotional functioning/psychosocial health rather than physical functioning/health scores suggests psychological adaptation from living with RDEB, a lifelong condition which typically presents at or shortly after birth. Further, a relative improvement in HRQoL with age, despite disease progression and increasing severity over time, supports ongoing adaptation throughout life.