Surgical treatment of monogenic inflammatory bowel disease: A single clinical center experience

Abstract

Purpose: With the wide application of immunologic reconstitution treatment, such as hematopoietic stem-cell transplantation (HSCT), most patients of inflammatory bowel disease (IBD) with immunodeficiency owing to monogenic abnormalities need surgical intervention during the course of treatment, which is quite different from traditional IBD surgery. The aim of this study was to generalize the surgical strategies as a part of comprehensive therapy for these rare diseases.

Methods: A retrospective study was conducted based on the clinical data of children with immunodeficiency-derived IBD who underwent surgical treatment in Children's Hospital of Fudan University between January 2015 and December 2017.

Results: A total of 18 patients with monogenic abnormalities were enrolled. The major surgical indications included 11 cases of acute or chronic intestinal obstructions, 4 refractory intestinal infections, and 3 pneumoperitoneum, while 12 cases had perforations noted during intraoperative exploration. All of the patients underwent varieties of enterostomies to divert the affected or obstructed intestine during the primary surgery. Wound infections or dehiscence occurred in 7 patients, and 2 patients underwent reoperations for adhesive intestinal obstruction and prolapse. Postoperatively, 15 patients survived, 13 of which achieved immune reconstitution through subsequent HSCT or immunoglobulin supplementation. In the second-stage surgery, a posterior sagittal approach rectal resection was performed in 5 patients with complex anorectal complications. Twelve patients had undergone stoma closure procedures.

Conclusion: Surgical intervention should be performed earlier because the perforations are usually insidious in monogenic IBD. Preventative enterostomies are suggested in preparation for HSCT among patients with severe anorectal complications. Wound infections are the most common complication after the primary operation. Posterior sagittal rectal resection is a good option for patients with complex anorectal complications.

Type of study: Clinical research paper.

Level of evidence: Level IV.

Keywords: Enterostomy; Immunodeficiency; Inflammatory bowel disease; Surgical indication; Surgical treatment.