Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand

Abstract

Objective: To establish the epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa (EB) in New Zealand (NZ).Methods: Participants were recruited through the Dystrophic Epidermolysis Bullosa Research Association of New Zealand (DEBRA NZ). Dedicated EB nurse medical records, Genetic Health Service NZ (GHSNZ) records and, where available, public hospital records were manually reviewed for relevant clinical data.Results: Ninety-two participants took part in the study (56% participation rate). Forty-nine (53%) participants had EB simplex (EBS), 40 (43%) had dystrophic EB (DEB), and 3 (3%) had junctional EB (JEB). Point prevalence for EB of all types was 19.5 per million, and 10.4, 8.6 and 0.9 per million for EBS, DEB and JEB, respectively. Thirty-four participants had intermediate or severe EB. There were 29 paediatric cases and almost even numbers of males and females. Compared to NZ European and M aori, prevalence rates were lower for Pacific and Asian people and higher in the Middle Eastern/Latin American/African population. Eight out of 14 skin biopsy results were informative, and 14 of 15 genetic test results were informative. Conclusion:New Zealand has similar prevalence rates of EB compared with other national cohorts. This is likely to be an underestimate due to methodological limitations. Recent advancements in genomic testing have resulted in an improved diagnostic rate in our population. Further research into ethnic differences in prevalence, and exploring the characteristics of lethal forms of EB, is warranted. A dynamic registry may be helpful for the EB community in NZ.

Stop codon readthrough as a treatment option for epidermolysis bullosa—Where we are and where we are going

“…EB is considered a rare or orphan disease 5 . Various EB prevalence and incidence rates have been reported across countries worldwide 10–16 . Collected epidemiological data were acquired from a 16‐year prospective cross‐sectional, longitudinal study conducted on 3271 patients of all ages in the United States enrolled in the National EB Registry (NEBR).…”

“…5 Various EB prevalence and incidence rates have been reported across countries worldwide. [10][11][12][13][14][15][16] Collected epidemiological data were acquired from a 16-year prospective cross-sectional, longitudinal study conducted on 3271 patients of all ages in the United States enrolled in the National EB Registry (NEBR). The overall prevalence and incidence of hereditary EB during this period were 11.1 and 19.6 per 1 million population and per 1 million live births, respectively.…”

French data on the epidemiology and expert healthcare network for epidermolysis bullosa

“…1,3,4 Heterogenous EB prevalence rates have been reported across countries worldwide, with values ranging from 4.0 to 54.0/million population, reflecting variabilities in populations and data sources. [5][6][7] In France, no epidemiological data have been published, but data on EB patients collected through the network of national and local rare disease centres were available from the French national registry for rare diseases (BNDMR). 8 A retrospective analysis has been performed using BNDMR data from EB patients registered between January 2007 and December 2021.…”

“…Nevertheless, the French prevalence rates by EB type were within the range of those in other countries. [5][6][7] As regards visits to expert centres, the annual visit frequency per patient was in accordance with the national recommendation 9 of a minimum of one visit/year, for each EB type (Table 1). DEB and JEB patients had the highest frequencies.…”

The importance of accurate epidemiological data of epidermolysis bullosa

“…Former epidemiological studies on EB showed considerably varying figures, partly reflecting the challenge of epidemiological studies of EB, and rare diseases in general. The reported prevalences and incidences (per million) were, respectively, 22·4 and 41·3 in the Netherlands and 11·1 and 19·6 in the USA; prevalences (per million) were 10·3 in Australia, 19·5 in New Zealand, 6·7 in Iran and approximately 20 in Slovenia 4–9 . These varying figures can be explained by factors influencing case ascertainment, like demographic factors (country size, and number and distribution of EB centres) and factors related to healthcare systems (insurance aspects, diagnostic possibilities, awareness among non‐EB specialists about the disease, and centres of expertise).…”