Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies

Jodie Ouahed, Elizabeth Spencer, Daniel Kotlarz, Dror S Shouval, Matthew Kowalik, Kaiyue Peng, Michael Field, Leslie Grushkin-Lerner, Sung-Yun Pai, Athos Bousvaros, Judy Cho, Carmen Argmann, Eric Schadt, Dermot P B Mcgovern, Michal Mokry, Edward Nieuwenhuis, Hans Clevers, Fiona Powrie, Holm Uhlig, Christoph Klein, Aleixo Muise, Marla Dubinsky, Scott B Snapper

Published: 12/05/2020


Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before 6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some distinct characteristics such as a higher likelihood of an underlying monogenic etiology or primary immune deficiency. In addition, patients with VEO-IBD have a higher incidence of inflammatory bowel disease unclassified (IBD-U) as compared with older-onset IBD. In some populations, VEO-IBD represents the age group with the fastest growing incidence of IBD. There are contradicting reports on whether VEO-IBD is more resistant to conventional medical interventions. There is a strong need for ongoing research in the field of VEO-IBD to provide optimized management of these complex patients. Here, we provide an approach to diagnosis and management of patients with VEO-IBD. These recommendations are based on expert opinion from members of the VEO-IBD Consortium ( We highlight the importance of monogenic etiologies, underlying immune deficiencies, and provide a comprehensive description of monogenic etiologies identified to date that are responsible for VEO-IBD.

Full Access Link: Inflammatory bowel diseases