Journal Article

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

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

2020

Overview

Very early onset inflammatory bowel disease (VEO-IBD) reflects IBD presenting before 6 years of age. We provide an approach to diagnosis and management of patients with VEO-IBD, based on expert opinion from members of the VEO-IBD Consortium (www.VEOIBD.org).AbstractVery 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.

• Publisher: Oxford University Press
• Subject: Age of Onset / Care and treatment / Child, Preschool / Clinical Review / Diagnosis / Genetic aspects / Genetic Predisposition to Disease / Health aspects / Humans / Immunodeficiency / Inflammatory bowel disease / Inflammatory bowel diseases / Inflammatory Bowel Diseases - diagnosis / Inflammatory Bowel Diseases - epidemiology / Inflammatory Bowel Diseases - etiology / Inflammatory Bowel Diseases - genetics / Pediatric research / Phenotype / Primary Immunodeficiency Diseases - complications / Primary Immunodeficiency Diseases - epidemiology