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

2019; Oxford University Press; Volume: 26; Issue: 6 Linguagem: Inglês

10.1093/ibd/izz259

1536-4844

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

Immune Cell Function and Interaction

Abstract 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 (www.VEOIBD.org). 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.