OBJECTIVES: Epidermolysis bullosa (EB) describes a complex group of lifelong, rare, inherited skin fragility disorders, characterized by frequent skin blistering, altered wound healing, debilitating pain and pruritus, and systemic complications. Data on the impact of EB on the health-related quality of life (HRQoL) of both patients and carers is limited. The 2023 EB Insights Study, conducted by DEBRA UK, aimed to collect data to capture the impact of EB on daily life, including the HRQoL, of patients and their carers/ families.

METHODS: The Insights study collected EQ-5D-5L and VAS data for n=302 people living with EB via online surveys, reported by EB subtype and self-reported severity. Utility values were elicited from the EQ-5D-5L (cross-walked to EQ-5D-3L utility tariff). The impact on the HRQoL of carers was also explored.

RESULTS: Overall utility on a ‘typical day’ for people living with EB was 0.688 (SD: 0.267). By subtype this was: EB simplex [EBS] 0.738; dystrophic EB [DEB] 0.601; junctional EB [JEB] 0.483; Kindler EB [KEB]: 0.511. When EB was ‘at its worst’, overall EB patient utility was 0.140 (SD: 0.404) (KEB: 0.286; DEB: 0.141; EBS: 0.128; JEB: 0.092). By self-assessed severity (mild/ moderate/ severe/ it depends), utility on a ‘typical day’ ranged between 0.866 and 0.279 for the overall EB population and between 0.447 and -0.325 when EB was ‘at its worst’. Of the carer respondents, 61% said caring for EB had a moderate to high impact on their ability to enjoy life, and 59% said it had a moderate to high impact on their mental health.

CONCLUSIONS: The Insights Study 2023 is the most comprehensive, patient-centric research in EB to-date. It provides a body of quantitative and qualitative data that demonstrates the substantial impact living with EB, or caring for someone living with EB, has on HRQoL.