The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*

Abstract

Summary Background The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales. Objectives To quantify prevalence, incidence and mortality of EB in England and Wales. Methods Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data. Results By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34·8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10·7 per million, junctional EB (JEB) 1 per million and Kindler EB 0·3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32·5, 26·1, 8·9 and 0·9, respectively (total incidence for all types of EB was 67·8 per million). Birth rates fell progressively over the 19‐year period for JEB‐severe (JEB‐S) (r = −0·56) and recessive DEB‐severe (r = −0·44) and also for milder types of EB. We observed longer survival in JEB‐S over the 19‐year period (r2 = 0·18) with a median survival of 12·7 months over the past 5 years. Conclusions In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB‐S may reflect improved multidisciplinary care.

Epidemiology of inherited epidermolysis bullosa in Germany

“…Even though a degree of uncertainty in incidence numbers remains, we are confident that our data are reliable, as they are derived from the main EB diagnostic laboratories. Calculations of point prevalence and mortality for EB and its subtypes are subject to more uncertainty, as Germany lacks a national health register that provides such data in other countries, such as Denmark 27 or the UK 10 . To compensate for this limitation, the capture–recapture model in combination with log‐linear models and correction with random effects represents a solid epidemiologic model and was also applied in rare disease epidemiology studies in other countries 22,28,29 .…”

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

“…Our study included 19 EBS patients (24.7%), six JEB patients (7.8%), and 52 DEB patients (67.5%). In contrast, most studies on the prevalence of EB using national EB registries showed EBS to be the most common subtype, accounting for over or close to 50% of all EB cases [ 19 – 21 ]. Published studies also revealed that EBS as a share of EB is highest in Northern Ireland (88%), followed by Scotland (58%), Australia (56%), the United States (54%), Japan (51%), and Norway (43%), with the lowest occurring in Croatia (16%) [ 20 , 22 ].…”

The importance of accurate epidemiological data of epidermolysis bullosa

“…Petrof et al . also provide longitudinal data and show a reduction of birth incidence over the 19‐year period for all types of EB, even when corrected for changes in total population and the number of live births over the period 3 . This shows the ability of robust epidemiological data from a cohort with high case ascertainment to be able to identify important trends.…”

“…In this issue of the BJD , Petrof et al . describe the EB population of England and Wales and provide epidemiological data from one of the largest EB cohorts reported until now, with over 2500 patients with EB 3 . They report a prevalence of 34·8 and an incidence of 67·8 per million.…”