ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

Abstract

Background: Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims: This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods: Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results: Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion: In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.

Diet plays a central role in parental self‐treatment of children with Hirschsprung’s disease—a qualitative study

“…No such study has been reported, but one‐third of Swedish patients with total colonic aganglionosis required additional nutrition and almost one‐quarter were underweight, indicating the presence of underlying malnutrition 2,6 . Recent guidelines for the management of rectosigmoid HD 3 recommend a follow‐up of growth and nutrition, also engaging an interdisciplinary care team comprising gastroenterologists and nutritional therapists. Findings of this study suggest that paediatric nutrition support teams should be aware of parental dietary restrictions in children with HD and, therefore, perform routine nutritional assessments.…”

Persistent bowel dysfunction after surgery for Hirschsprung’s disease: A neuropathological perspective

“…Due to this aganglionosis, there is a lack of peristaltic movement in the affected bowel with loss of smooth muscle relaxation, resulting in functional constriction. In around 80% of patients, the aganglionic segment is located in the rectosigmoid area, but it may also cover a longer segment, up to the total colon or even the small bowel in rare cases[ 2 - 4 ]. The current method of establishing aganglionosis is by contrast enema, anorectal manometry, and rectal biopsies[ 2 , 4 - 6 ].…”

“…In around 80% of patients, the aganglionic segment is located in the rectosigmoid area, but it may also cover a longer segment, up to the total colon or even the small bowel in rare cases[ 2 - 4 ]. The current method of establishing aganglionosis is by contrast enema, anorectal manometry, and rectal biopsies[ 2 , 4 - 6 ]. Of these options, rectal biopsies are considered to have the highest diagnostic specificity[ 4 , 6 , 7 ].…”

Comparison of Two Different Cut-Off Values of Scoring System for Diagnosis of Hirschsprung-Associated Enterocolitis After Transanal Endorectal Pull-Through

“…The objective of surgical treatment for HSCR is to remove the aganglionic colon and to anastomose the ganglionic colon above the dentate line (1,5). Transanal endorectal pullthrough (TEPT) is the most current popular procedure in the surgical correction of HSCR since it is less invasive and has many advantages compared with the transabdominal approaches (5)(6)(7)(8)(9).…”