Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study

@article{mutanen2026longterm,
  title = {{Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study}},
  author = {Annika Mutanen and Alessio Pini Prato and Marta Erculiani and Cécile Lambe and Judith Lindert and Stefanie Märzheuser and Fabio Fusaro and Kjetil Juul Stensrud and Kristin Bjornland and Niels Qvist and Mark Bremholm Ellebæk and Merit M Tabbers and Joep P M Derikx and Rony Sfeir and Konrad Reinshagen and Johanna Ludwiczek and Lucie Poš and Tereza Bartošová and Marc Miserez and Anna Löf Granström and Tomas Wester and Johannes Hilberath and Arnaud Bonnard and Donatella Di Fabrizio and Anat Guz-Mark and Pierre Poinsot and Katrien Van Renterghem and Francesca Destro and Pernilla Stenström and Florian Friedmacher and Udo Rolle and Riccardo Coletta and Antonino Morabito and Francesco Fascetti Leon and Miriam Duci and Cornelius E J Sloots and Hendt Versteegh and Domingas Atouguia and Miguel Campos and Inna Spector Cohen and Stanko Cavar and Ivana Sabolic and Xavier Tarrado and Sophie Langer and Lorenzo Norsa and Mikko P Pakarinen},
  journal = {BJS Open},
  year = {2026},
  month = nov,
  doi = {10.1093/bjsopen/zrag143},
  url = {https://doi.org/10.1093/bjsopen/zrag143},
  note = {CC BY-NC 4.0},
}

TY  - JOUR
TI  - Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study
AU  - Annika Mutanen
AU  - Alessio Pini Prato
AU  - Marta Erculiani
AU  - Cécile Lambe
AU  - Judith Lindert
AU  - Stefanie Märzheuser
AU  - Fabio Fusaro
AU  - Kjetil Juul Stensrud
AU  - Kristin Bjornland
AU  - Niels Qvist
AU  - Mark Bremholm Ellebæk
AU  - Merit M Tabbers
AU  - Joep P M Derikx
AU  - Rony Sfeir
AU  - Konrad Reinshagen
AU  - Johanna Ludwiczek
AU  - Lucie Poš
AU  - Tereza Bartošová
AU  - Marc Miserez
AU  - Anna Löf Granström
AU  - Tomas Wester
AU  - Johannes Hilberath
AU  - Arnaud Bonnard
AU  - Donatella Di Fabrizio
AU  - Anat Guz-Mark
AU  - Pierre Poinsot
AU  - Katrien Van Renterghem
AU  - Francesca Destro
AU  - Pernilla Stenström
AU  - Florian Friedmacher
AU  - Udo Rolle
AU  - Riccardo Coletta
AU  - Antonino Morabito
AU  - Francesco Fascetti Leon
AU  - Miriam Duci
AU  - Cornelius E J Sloots
AU  - Hendt Versteegh
AU  - Domingas Atouguia
AU  - Miguel Campos
AU  - Inna Spector Cohen
AU  - Stanko Cavar
AU  - Ivana Sabolic
AU  - Xavier Tarrado
AU  - Sophie Langer
AU  - Lorenzo Norsa
AU  - Mikko P Pakarinen
PY  - 2026
DA  - 2026/11/04
JO  - BJS Open
DO  - 10.1093/bjsopen/zrag143
UR  - https://doi.org/10.1093/bjsopen/zrag143
AB  - Background: Total colon aganglionosis (TCA), a severe form of Hirschsprung disease, is a rare and complex condition with variable management and limited outcome data. This retrospective cross-sectional multicentre study assessed current long-term outcomes of TCA in Europe.  Methods: Patients with TCA under follow up at participating ERNICA and ESPGHAN centres were included. Data were collected on genetics, nutritional, functional, and surgical outcomes, intestinal inflammatory lesions, and mortality during the preceding 10 years.  Results: Thirty-one centres from 15 countries contributed 401 patients (median age 7.9 years; interquartile range 4.0–13.6 years). Genetic testing was performed in 52% of patients, with pathogenic variants identified in 62%, mainly RET. Aganglionosis was limited to the colon in 26%, extended to the small bowel in 71%, and was total intestinal in 3%, without association with genetic status. At the latest follow-up, 25% of patients were receiving parenteral nutrition (PN); PN dependency was associated with small intestine extension of aganglionosis > 50 cm (72% of patients with >50 cm small bowel aganglionosis versus 15% of patients aganglionosis <50 cm small bowel or limited to the colon; P < 0.001). Overall, 77% of patients underwent pull-through, most commonly ileoanal anastomosis (62%) or Duhamel (31%). Complications included anastomotic leak (4%), strictures (12%), redo surgery (24%), recurrent enterocolitis (36%), obstructive symptoms (24%), and faecal incontinence (25%). Recurrent enterocolitis was associated with obstructive symptoms (P = 0.007). Endoscopy showed intestinal inflammatory lesions in 22% of patients, particularly those with recurrent enterocolitis (odds ratio (OR) 6.43; 95% confidence interval (c.i.) 3.27 to 12.63) and obstructive symptoms (OR 2.64; 95% c.i. 1.26 to 5.53). The 10-year mortality rate was 3.4%.  Conclusion: TCA shows a high prevalence of genetic abnormalities and substantial postoperative and long-term morbidity, independent of surgical technique.
SN  - 2474-9842
ER  -