P171 National prevalence and mortality risk of epidermolysis bullosa in the UK: insights from primary care and linked hospital data

Abstract

Epidermolysis bullosa (EB) is a group of rare inherited skin fragility disorders. Previous UK epidemiological research, largely based on tertiary care cohorts, may have underestimated milder forms. A retrospective matched cohort study was conducted using records from the Clinical Practice Research Datalink (CPRD) linked to Hospital Episode Statistics Admitted Patient Care and Office for National Statistics mortality data from 1997 to 2024. Cases of EB were matched (1 : 10) to controls without EB on age, gender, years of registration and general practice. We estimated the prevalence of recorded EB in 2023 and used Cox regression and Kaplan–Meier plots to describe mortality over the life course excluding the first 2 years. In total, 3300 cases of EB were matched to 32 682 controls. The estimated prevalence of EB was 7.9 per 100 000, corresponding to approximately 5400 people in UK. However, limited overlap between cases identified in hospital vs. primary care records alone suggests under-recording in primary care. For patients with EB surviving beyond 2 years, the median survival was 81 years [95% confidence interval (CI) 78–83], compared with 85 years in controls. The hazard ratio (HR) for mortality was greatest in childhood, with very low mortality in controls. In adulthood (age 20–65 years), the mortality rate among cases of EB was approximately twice that of the control group (HR 2.0, 95% CI 1.5–2.6), falling to HR 1.2 (95% CI 1.0–1.4) among those aged ≥ 65 years. Comparisons between subtypes were limited, due to the high proportion recorded as nonspecific EB. The prevalence of EB from primary care records with linked hospital inpatient data was more than twice a previous estimate from tertiary centres (Petrof G, Papanikolaou M, Martinez AE et al. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol 2022; 186: 843–8). EB is associated with increased mortality, not only in infancy but throughout the life course, particularly in childhood.