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

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.

Keywords: monogenic etiologies; primary immune deficiency; very early onset inflammatory bowel disease.

FIGURE 1.

Algorithm for work-up of VEO-IBD. Abs, antibodies; CBC with diff, complete blood count with differential; CGD, chronic granulomatous disease; CMP, comprehensive metabolic panel; CRP, C reactive protein; EGD, esophogastroduodenoscopy; ESR, erythrocyte sedimentation rate; H&P, history and physical; mo, month; NOBA, neutrophil oxidative burst assay; TB, tuberculosis; SSCYE, Salmonella, Shigella, Campylobacter jejuni, Yersinia enterocolitica, and E coli; C. Diff, C. Difficile; Wk, week.