Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

Journal article

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.

Authors: Ouahed, J; Spencer, E; Kotlarz, D; Shouval, D; Kowalik, M

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Oxford University Press
• Journal: Inflammatory Bowel Diseases
• Volume: 26
• Issue: 6
• Pages: 820-842
• Publication date: 2019-12-03
• Acceptance date: 2019-08-20
• DOI: 10.1093/ibd/izz259
• EISSN: 1536-4844
• ISSN: 1078-0998
• Pmid: 31833544
• Language: English
• Keywords: very early onset inflammatory bowel disease; primary immune deficiency; FFR; monogenic etiologies