OBJECTIVES:

Epidermolysis Bullosa (EB) is a group of rare, severe genetic skin conditions. Understanding the health related quality of life (HRQoL) impact of EB is essential in demonstrating the value of new treatments. The study elicited HRQoL from EB patients and caregivers using validated generic and disease specific instruments, and explored the relationship with disease severity.

METHODS:

An online cross-sectional survey captured HRQoL across the UK, USA and Ireland (09/2021 to 04/2022).HRQoL was measured using EQ-5D-5L, EQ-VAS, CHU9D, IscorEB, and CarerQol. Descriptive statistics were used for categoric variables and continuous variables. HRQoL was analysed by self-reported body surface area percentage (BSAP) which was split into six groups (<=4, >4 to <=7, >7 to <=10, >10 to <=18, >18 to <=24, >24) and three self-reported severity groups. Associations were determined using scatter plots with linear prediction lines.

RESULTS:

A total of 67 patients and 11 caregivers completed the survey. Patient self-reported EB type was Recessive (45%) and Dominant (45%) Dystrophic, Junctional (9%) or Kindler (1%), with severity reported as mild (27%), moderate (58%) or severe (15%). Self-reported BSAP groups showed a split of 1%, 10%, 13%, 33%, 12%, 30% respectively by the six BSAP groups. EQ-5D-5L presented higher HRQoL with a mean(SD) of 0.71(0.15) for mild severity and 0.87(NA) for BSAP group <=4% compared to 0.23(0.44) for severe severity and 0.41(0.32) BSAP group >24%. EQ5D-5L VAS showed an association between worsening severity and worsening quality of life, CHU9D did not show as clear a trend. IscorEB showed an association between a lower score and a higher severity and BSAP. CarerQol-7D scores of caregivers were consistent within a smaller range.

CONCLUSIONS:

All instruments discriminated between groups. An association between decreased disease burden in terms of self-reported severity and BSAP and higher HRQoL was observed. HRQoL reported by caregivers should be further explored.