P257 Clinical characteristics and outcome of Hirschsprung's disease-associated inflammatory bowel disease: experience from 33 years of practice in a single institution

Abstract

Abstract Background Hirschsprung-associated Inflammatory Bowel Disease (H-IBD) is a very rare condition, occurring in approximately 2% of individuals with Hirschsprung's disease. The etiology remains unclear. In a recent study by Wang et al., nine genes were identified as consistently overexpressed in patients with both Crohn's disease and Hirschsprung's disease. Notably, all of them possess proinflammatory properties (IL1B, IL10, CXCL10, ICAM1, EGR1, FCGR3A, S100A12, S100A9, and FPR1). This suggests that chronic inflammation in HD patients may be involved in the progression to IBD. However, due to its low prevalence, there is currently a lack of knowledge about its course and response to treatment. In this study, we aimed to describe our initial experience with H-IBD by analyzing 378 patients operated on for HD at our institution. Methods We retrospectively reviewed all patients who underwent operation for HD from January 1989 to December 2021 in a single institution. Of 378 patients, 13 patients were suspected of H-IBD. The diagnosis of H-IBD was based on the criteria described in Sutthatarn et al. We analyzed patient characteristics and outcome. Results Of the 13 patients, 8 (61.5%) were boys. All patients had a final diagnosis of total colonic aganglonosis (TCA, long segment HD). One patient was accompanied by an imperforate anus and this patient got colonic segmental resection. Duhamel was performed in 4 patients, endorectal pull-through in 5 patients, and Swenson in 1 patient. Seven patients underwent a re-do pull-through operation. H-IBD was diagnosed by bloody stools in 4 patients, diarrhea in 5 patients, repeated Hirschsprung-associated enterocolitis (HAEC) in 3 patients and iron-deficiency anemia in 1 patient. Seven patients started treatment, and all but one with recurrent flare-ups improved. Immunologics were used in 2 patients, and the remaining patients were maintained with steroids, mesalazine, and antibiotics. Additional surgeries for H-IBD were not performed in all patients. Conclusion In our experience, H-IBD was diagnosed in 13 of the 46 children operated on with TCA. (28.3%) Progression to H-IBD should be suspected in patients with recurrent postoperative HAECs and poor response to antibiotic therapy. In addition, in patients older than 5 years of age who require stoma formation due to diarrhea or hematochezia, it may be helpful to screen for the possibility of H-IBD and initiate appropriate therapy.