Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung disease interest group

Pattamon Sutthatarn; Eveline Lapidus-Krol; Caitlin Smith; Ihab Halaweish; Kristy Rialon; Matthew W Ralls; Rebecca M Rentea; Mary B Madonna; Candace Haddock; Ana M Rocca; Ankush Gosain; Jason Frischer; Hannah Piper; Allan M Goldstein; Payam Saadai; Megan M Durham; Belinda Dickie; Mubeen Jafri; Jacob C Langer

doi:10.1016/j.jpedsurg.2023.01.018

Hirschsprung-associated inflammatory bowel disease: A multicenter study from the APSA Hirschsprung disease interest group

J Pediatr Surg. 2023 May;58(5):856-861. doi: 10.1016/j.jpedsurg.2023.01.018. Epub 2023 Jan 24.

Authors

Pattamon Sutthatarn¹, Eveline Lapidus-Krol², Caitlin Smith³, Ihab Halaweish⁴, Kristy Rialon⁵, Matthew W Ralls⁶, Rebecca M Rentea⁷, Mary B Madonna⁸, Candace Haddock⁹, Ana M Rocca¹⁰, Ankush Gosain¹¹, Jason Frischer¹², Hannah Piper¹³, Allan M Goldstein¹⁴, Payam Saadai¹⁵, Megan M Durham¹⁶, Belinda Dickie¹⁷, Mubeen Jafri¹⁸, Jacob C Langer¹⁹

Affiliations

¹ Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada; Department of Surgery, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
² Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada.
³ Department of Surgery, Division of Pediatric and Thoracic Surgery, The University of Washington, Seattle Children's Hospital, Seattle, WA, USA.
⁴ Division of Pediatric Surgery, The Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
⁵ Department of Pediatric Surgery, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
⁶ UMICH University of Michigan Section of Pediatric Surgery, C. S. Mott Children's Hospital, Ann Arbor, MI, USA.
⁷ Department of Pediatric Surgery, University of Missouri-Kansas City School of Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
⁸ Department of Surgery, Rush Medical College, Department of Pediatrics, Division of Pediatric Surgery, Rush University Medical Center, Chicago, IL, USA.
⁹ Department of Pediatric Surgery, Valley Children's Healthcare, Madera, CA, USA.
¹⁰ Garrahan Hospital, Buenos Aires, Argentina.
¹¹ Division of Pediatric Surgery, Le Bonheur Children's Hospital, University of Tennessee Health Science Center, Children's Foundation Research Institute Memphis, TN, USA.
¹² Division of Pediatric General and Thoracic Surgery Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
¹³ Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.
¹⁴ Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
¹⁵ Department of Pediatric Surgery, UC Davis Children's Hospital, UC Davis Medical Center, Sacramento, CA, USA.
¹⁶ Division of Pediatric Surgery, Department of Surgery, Emory University School of Medicine, Children's Healthcare of Atlanta/Emory Pediatric Institute, Atlanta, GA, USA.
¹⁷ Department of Surgery, Harvard Medical School, Children's Harvard, Boston, MA, USA.
¹⁸ Department of Surgery, Division of Pediatric Surgery, Oregon Health and Science University, Portland, OR, USA.
¹⁹ Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada. Electronic address: Jacob.langer@sickkids.ca.

PMID: 36801072
DOI: 10.1016/j.jpedsurg.2023.01.018

Abstract

Background/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.

Methods: Retrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 and 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.

Results: 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.

Conclusion: More than half of the patients 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.

Level of evidence: Level 4.

Keywords: Crohn disease; Diarrhea; Enterocolitis; Hirschsprung associated enterocolitis; Hirschsprung disease; Hirschsprung-associated inflammatory bowel disease; Inflammatory bowel disease; Inflammatory bowel disease after pullthrough; Ulcerative colitis.

Publication types

Multicenter Study

MeSH terms

Biological Factors
Child
Child, Preschool
Down Syndrome* / complications
Enterocolitis* / diagnosis
Enterocolitis* / epidemiology
Enterocolitis* / etiology
Female
Hirschsprung Disease* / complications
Hirschsprung Disease* / diagnosis
Hirschsprung Disease* / surgery
Humans
Infant
Inflammatory Bowel Diseases* / complications
Male
Public Opinion
Retrospective Studies

Substances

Biological Factors