Hirschsprung's disease: early diagnosis and long-term outcomes

Both the diagnosis and treatment of Hirschsprung’s disease have improved vastly over the last few decades. Nevertheless, the diagnosis remains troublesome and usually requires an invasive biopsy procedure that often yields uncertain results. Although surgical techniques are being perfected and outcomes are improving, proper follow-up studies are necessary to assess long-term functional outcomes and quality of life.

The first aim of this thesis was to increase the diagnostic accuracy and ultimately reduce the number of invasive biopsy procedures needed to diagnose Hirschsprung’s disease. One of our analyses showed that, in patients younger than 39 days, biopsies are less reliable and should be avoided. Results of another study additionally showed that anorectal manometry may be a non-invasive alternative that can be used to reduce the number of biopsy procedures needed to diagnose Hirschsprung’s disease. Anorectal manometry may further serve as a complement to biopsies in the diagnosis of other causes of constipation in newborns, such as an immaturity of one of the anorectal reflexes.

The second aim of this thesis was to perform long-term follow-up studies of Hirschsprung patients to assess their functional outcomes and quality of life. For this we collaborated with all six pediatric surgery institutes in the Netherlands and performed a nationwide, cross-sectional study with an unprecedented number of patients. The main finding of this study was that, although improving with age, the symptoms of constipation and soiling persisted in a substantial group of adult Hirschsprung patients.