Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease.

INTRODUCTION

It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

METHODS

Children suspected of HD above the age of six months referred for biopsies were analyzed retrospectively. Severity of complications of rectal suction biopsy (RSB) and full thickness biopsy (FTB) were assessed using Clavien-Madadi (CM) grading. Factors associated with HD were tested using multivariate logistic regression analysis.

RESULTS

From 2000 to 2022, 234 children older than six months of age underwent biopsies because of defecation problems (median age of 47.2 months (IQR = 17.2-87.2)). Of these, 130 out of 234 children underwent RSB and 112 out of 234 children underwent FTB. One patient (0.4 %) developed a complication following RSB (CM1-A): fever without evident cause. Two patients (0.9 %) had ongoing rectal bleeding following FTB. One patient did not require an intervention (CM1-A), the other received rectal spongostan to stop the bleeding and erythrocyte transfusion (CM2). The most frequent final diagnoses were functional constipation (n = 179, 76.5 %), HD (n = 25, 10.6 %) and food intolerance (n = 5, 2.1 %). Associated factors for HD were distended abdomen (OR 5.41, CI 2.05-14.31), vomiting (OR 4.14, CI 1.64-11.85) and no abdominal pain (OR 0.14, CI 0.03-0.65) (model R = 0.278).

CONCLUSION

In children older than six months suspected of HD, presenting with distended abdomen, vomiting and no abdominal pain, we advise obtaining a rectal biopsy in case other causes of constipation are ruled out, because a rectal biopsy is a safe procedure with only minor complications. The most common diagnosis in patients older than six months of age referred for rectal biopsy was functional constipation.

LEVEL OF EVIDENCE

Level III.