Long-term outcomes after total colonic aganglionosis: retrospective European multicentre cohort study
Year: 2026
Type: article
Study design: Observational Study
Abstract: 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.
Source: BJS Open
Authors: Annika Mutanen, Alessio Pini Prato, Marta Erculiani, Cécile Lambe, Judith Lindert, Stefanie Märzheuser, Fabio Fusaro, Kjetil Juul Stensrud, Kristin Bjornland, Niels Qvist, Mark Bremholm Ellebæk, Merit M Tabbers, Joep P M Derikx, Rony Sfeir, Konrad Reinshagen, Johanna Ludwiczek, Lucie Poš, Tereza Bartošová, Marc Miserez, Anna Löf Granström, Tomas Wester, Johannes Hilberath, Arnaud Bonnard, Donatella Di Fabrizio, Anat Guz-Mark, Pierre Poinsot, Katrien Van Renterghem, Francesca Destro, Pernilla Stenström, Florian Friedmacher, Udo Rolle, Riccardo Coletta, Antonino Morabito, Francesco Fascetti Leon, Miriam Duci, Cornelius E J Sloots, Hendt Versteegh, Domingas Atouguia, Miguel Campos, Inna Spector Cohen, Stanko Cavar, Ivana Sabolic, Xavier Tarrado, Sophie Langer, Lorenzo Norsa, Mikko P Pakarinen
Institutions: University of Helsinki, Helsinki University Hospital, Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo, Hôpital Necker-Enfants Malades, Université Paris Cité, Universitätsmedizin Rostock, Bambino Gesù Children's Hospital, Oslo University Hospital, University of Oslo, University of Southern Denmark, Odense University Hospital, Emma Kinderziekenhuis, Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction Development, University of Amsterdam, Vrije Universiteit Amsterdam, Hôpital Jeanne de Flandre, Universität Hamburg, University Medical Center Hamburg-Eppendorf, Johannes Kepler University of Linz, Kepler Universitätsklinikum, Charles University, Fakultní nemocnice Motol a Homolka, Universitair Ziekenhuis Leuven, KU Leuven, Karolinska University Hospital, Karolinska Institutet, University Children's Hospital Tübingen, Hôpital Robert-Debré, Marche Polytechnic University, Tel Aviv University, Schneider Children's Medical Center, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Ghent University Hospital, Ospedale dei Bambini Vittore Buzzi, Lund University, Skåne University Hospital, Goethe University Frankfurt, University Hospital Frankfurt, Meyer Children's Hospital, University of Florence, Azienda Ospedale - Università Padova, Erasmus MC, Erasmus MC - Sophia Children’s Hospital, Hospital de São João, Technion – Israel Institute of Technology, Rambam Health Care Campus, University Hospital Centre Zagreb, Hospital Sant Joan de Déu Barcelona, Universitat de Barcelona, Medical University of Vienna, University of Milan, Ospedale Papa Giovanni XXIII
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,881
Funder: Lastentautien Tutkimussäätiö
OpenAlex ID: W7225248134