Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung Disease Interest Group


      • What is currently known about this topic?HD-IBD is rare with approximately 2% incidence based on previous studies.
      • What new information is contained in this article?Risk factors for HD-IBD may include long segment disease, trisomy 21, previous episodes of HAEC, and long segment disease. HD-IBD can be found in patients younger than 5 years old but often occurs many years after pullthrough surgery. Biological agents are the most effective pharmacological treatment for HD-IBD. Almost 30% of HD-IBD required surgical treatment for IBD.



      /Purpose: A small number of Hirschsprung disease (HD) patients develop inflammatory bowel disease (IBD)-like symptoms after pullthrough surgery. The etiology and pathophysiology of Hirschsprung-associated IBD (HD-IBD) remains unknown. This study aims to further characterize HD-IBD, to identify potential risk factors and to evaluate response to treatment in a large group of patients.


      Retrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 - 2021 at 17 institutions. Data regarding clinical presentation and course of HD and IBD were reviewed. Effectiveness of medical therapy for IBD was recorded using a Likert scale.


      There were 55 patients (78% male). 50% (n=28) had long segment disease. Hirschsprung-associated enterocolitis (HAEC) was reported in 68% (n=36). Ten patients (18%) had Trisomy 21. IBD was diagnosed after age 5 in 63% (n=34). IBD presentation consisted of colonic or small bowel inflammation resembling IBD in 69%(n=38), unexplained or persistent fistula in 18% (n=10) and unexplained HAEC > 5 years old or unresponsive to standard treatment in 13% (n=7). Biological agents were the most effective (80%) medications. A third of patients required a surgical procedure for IBD.


      More than half of the patient were diagnosed with HD-IBD after 5 years old. Long segment disease, HAEC after pull through operation and trisomy 21 may represent risk factors for this condition. Investigation for possible IBD should be considered in children with unexplained fistulae, HAEC beyond the age of 5 or unresponsive to standard therapy, and symptoms suggestive of IBD. Biological agents were the most effective medical treatment.



      APSA-HDIG (the American Pediatric Surgical Association Hirschsprung Disease Interest Group), HD (Hirschsprung disease), HAEC (Hirschsprung associated enterocolitis), IBD (inflammatory bowel disease), HD-IBD (Hirschsprung-associated inflammatory bowel disease), FH (family history), CD (Crohn disease), UC (ulcerative colitis)
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