Epidemiology of inherited epidermolysis bullosa in Germany

Has C, Hess M, Anemueller W, Blume-Peytavi U, Emmert S, Foelster-Holst R, Frank J, Giehl K, Guenther C, Hammersen J, Hillmann K, Hoeflein B, Hoeger PH, Hotz A, Thuy Anh Mai , Oji V, Schneider H, Suessmuth K, Tantcheva-Poor I, Thielking F, Zirn B, Fischer J, Reimer-Taschenbrecker A (2022)

Publication Type: Journal article

Publication year: 2022

Journal

Journal of the European Academy of Dermatology and Venereology Wiley-Blackwell

DOI: 10.1111/jdv.18637

Abstract

Background Epidermolysis bullosa (EB) is a rare genetic disorder manifesting with skin and mucosal membrane blistering in different degrees of severity. Objective Epidemiological data from different countries have been published, but none are available from Germany. Methods In this population-based cross-sectional study, people living with EB in Germany were identified using the following sources: academic hospitals, diagnostic laboratories and patient organization. Results Our study indicates an overall EB incidence of 45 per million live births in Germany. With 14.23 per million live births for junctional EB, the incidence is higher than in other countries, possibly reflecting the availability of early molecular genetic diagnostics in severely affected neonates. Dystrophic EB was assessed at 15.58 cases per million live births. The relatively low incidence found for EB simplex, 14.93 per million live births, could be explained by late or missed diagnosis, but also by 33% of cases remaining not otherwise specified. Using log-linear models, we estimated a prevalence of 54 per million for all EB types, 2.44 for junctional EB, 12.16 for dystrophic EB and 28.44 per million for EB simplex. These figures are comparable to previously reported data from other countries. Conclusions Altogether, there are at least 2000 patients with EB in the German population. These results should support national policies and pharmaceutical companies in decision-making, allow more precise planning of drug development and clinical trials, and aid patient advocacy groups in their effort to improve quality of life of people with this orphan disease.

Authors with CRIS profile

Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin

Involved external institutions

Universitätsmedizin Rostock DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE) Universitätsklinikum Schleswig-Holstein (UKSH) DE Germany (DE) Albert-Ludwigs-Universität Freiburg DE Germany (DE) Universitätsklinikum Münster DE Germany (DE) Universität zu Köln DE Germany (DE) Universität zu Lübeck DE Germany (DE) Katholisches Kinderkrankenhaus Wilhelmstift DE Germany (DE) genetikum – Genetische Beratung & Diagnostik DE Germany (DE) Technische Universität Dresden DE Germany (DE) Interessengemeinschaft Epidermolysis Bullosa e. V. DEBRA DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) Universitätsklinikum Göttingen DE Germany (DE)

How to cite

APA:

Has, C., Hess, M., Anemueller, W., Blume-Peytavi, U., Emmert, S., Foelster-Holst, R.,... Reimer-Taschenbrecker, A. (2022). Epidemiology of inherited epidermolysis bullosa in Germany. Journal of the European Academy of Dermatology and Venereology. https://doi.org/10.1111/jdv.18637

MLA:

Has, Cristina, et al. "Epidemiology of inherited epidermolysis bullosa in Germany." Journal of the European Academy of Dermatology and Venereology (2022).

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