Hirschsprung's Disease Prevalence in Europe: A Register Based Study

Kate E. Best, Marie-Claude Addor, Larraitz Arriola, Eszter Balku, Ingeborg Barisic, Fabrizio Bianchi, Elisa Calzolari, Rhonda Curran, Berenice Doray, Elizabeth Draper, Ester Garne, Miriam Gatt, Martin Haeusler, Jorieke Bergman, Babak Khoshnood, Kari Klungsoyr, Carmen Martos, Anna Materna-Kiryluk, Carlos Matias Dias, Bob McDonnellCarmel Mullaney, Vera Nelen, Mary O'Mahony, Annette Queisser-Luft, Hanitra Randrianaivo, Anke Rissmann, Catherine Rounding, Antonin Sipek, Rosie Thompson, David Tucker, Diana Wellesley, Natalya Zymak-Zakutnia, Judith Rankin*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    41 Citations (Scopus)


    Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age. Results: There were 1,322 cases of Hirschsprung's disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk = 1.01; 95% credible interval, 1.00-1.02; p = 0.004). There was evidence of geographical heterogeneity in prevalence (p <0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence = 0.97; 95% confidence interval, 0.91-1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprung's disease in cases born to women aged >= 35 years compared with those aged 25 to 29 (relative risk = 1.09; 95% credible interval, 0.91-1.31; p = 0.355). Conclusion: This large population-based study found evidence of a small increasing trend in Hirschsprung's disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age. (C) 2014 Wiley Periodicals, Inc.

    Original languageEnglish
    Pages (from-to)695-702
    Number of pages8
    JournalBirth Defects Research. Part A: Clinical and Molecular Teratology
    Issue number9
    Publication statusPublished - Sep-2014


    • Hirschsprung's disease
    • congenital aganglionic megacolon
    • gut motility disorder
    • prevalence
    • trends

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