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ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease
Kristiina Kyrklund1, Cornelius E J Sloots2, Ivo de Blaauw3
1Department of Pediatric Surgery, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. kristiina.kyrklund@hus.fi.
Insights
This guideline provides expert consensus for diagnosing and managing Hirschsprung's disease (HSCR), a rare congenital bowel disorder, addressing the current lack of clinical evidence and decision-making support.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Rare Diseases
Background:
- Hirschsprung's disease (HSCR) is a congenital bowel disorder affecting 1 in 5000 individuals.
- Existing clinical guidelines for HSCR diagnostics and management are systematically underdeveloped.
- This gap impacts clinical decision-making for patients with this rare condition.
Purpose of the Study:
- To establish comprehensive guidelines for the diagnosis and management of rectosigmoid Hirschsprung's disease (HSCR) up to adulthood.
- To outline the preferred clinical approach endorsed by the European Reference Network for rare inherited and congenital digestive disorders (ERNICA).
Main Methods:
- An international expert workgroup from 8 European countries collaborated within ERNICA.
- Recommendations were developed through a comprehensive literature review and expert consensus, utilizing AGREE II and GRADE methodologies.
- Key topics covered the entire care pathway for rectosigmoid HSCR.
Main Results:
- Thirty-three consensus-based recommendation statements were generated across 9 key areas of HSCR care.
- The majority of recommendations were derived from expert opinion due to limited high-quality clinical evidence.
- Evidence levels and levels of agreement were documented for each statement.
Conclusions:
- Consensus-based guidelines for the care of rectosigmoid HSCR are presented.
- These guidelines aim to support clinical decision-making in the management of this rare congenital disorder.
- The development highlights the need for improved clinical evidence in rare diseases.
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.
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