TY - JOUR
T1 - The epidemiology of epidermolysis bullosa in England and Wales
T2 - data from the national epidermolysis bullosa database
AU - Petrof, Gabriela
AU - Papanikolaou, Maria
AU - Martinez, Anna E.
AU - Mellerio, Jemima E.
AU - McGrath, John A.
AU - Bardhan, Ajoy
AU - Harper, Natasha
AU - Heagerty, Adrian
AU - Ogboli, Malobi
AU - Chiswell, Christopher
AU - Moss, Celia
N1 - Funding Information:
source The national epidermolysis bullosa database is funded by NHS England. NHS England had no input into the data analysis and manuscript write-up.We would like to thank Eddy Butler, database administrator, the EB nursing teams and EB clinical team administrators across all four EB centres and, above all, the patients and their families. We would also like to extend our sincere gratitude to Fiona Browne for her earlier epidemiological work.
Publisher Copyright:
© 2022 British Association of Dermatologists.
PY - 2022/5
Y1 - 2022/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85127433443&partnerID=8YFLogxK
U2 - 10.1111/bjd.20958
DO - 10.1111/bjd.20958
M3 - Article
C2 - 34927719
AN - SCOPUS:85127433443
SN - 0007-0963
VL - 186
SP - 843
EP - 848
JO - British Journal of Dermatology
JF - British Journal of Dermatology
IS - 5
ER -