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 KleinAleixo Muise, Marla Dubinsky, Scott B. Snapper

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)820-842
Number of pages23
JournalInflammatory Bowel Diseases
Volume26
Issue number6
DOIs
StatePublished - 12 May 2020

Keywords

  • Monogenic etiologies
  • Primary immune deficiency
  • Very early onset inflammatory bowel disease

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