Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Rare Diseases

Background:

• Hirschsprung disease is a congenital motility disorder due to absent enteric ganglion cells.
• Total colonic or intestinal aganglionosis are severe variants affecting <10% of patients.
• These conditions present significant life-threatening challenges requiring specialized management.

Purpose of the Study:

• To establish clinical consensus statements for ERNICA (European Reference Network for rare congenital digestive diseases).
• To address key aspects of total colonic and intestinal aganglionosis:
• Surgical treatment, management of poor bowel function, and long-term care.

Main Methods:

• A multidisciplinary panel from ERNICA centers participated.
• Literature search in Medline, Embase, and Google Scholar.
• A modified Delphi process refined 45 consensus statements over three rounds.

Main Results:

• Consensus was reached on 45 statements by 24 experts from 10 European countries.
• High-quality clinical evidence was limited, with many statements based on expert opinion.
• 25 statements did not achieve consensus.

Conclusions:

• Total colonic and intestinal aganglionosis are rare Hirschsprung disease variants with limited evidence.
• The consensus provides guidance on surgical treatment, bowel function, and long-term management.
• Multidisciplinary, personalized care in expert centers is recommended for optimal patient outcomes.