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

Ouahed J1, Spencer E2, Kotlarz D3, Shouval DS4, Kowalik M1, Peng K1,5, Field M1, Grushkin-Lerner L1, Pai SY6, Bousvaros A1, Cho J7, Argmann C8, Schadt E8,9, Mcgovern DPB10, Mokry M11, Nieuwenhuis E11, Clevers H12, Powrie F13, Uhlig H14, Klein C4, Muise A15, Dubinsky M2, Snapper SB1. Inflamm Bowel Dis. 2019 Dec 3. pii: izz259. doi: 10.1093/ibd/izz259. [Epub ahead of print]


Author information

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.

Division of Gastroenterology, Hepatology and Nutrition, Mount Sinai Hospital, New York City, NY, USA.

Department of Pediatrics, Dr. Von Haunder Children's Hospital, University Hospital, Ludwig-Maximillians-University Munich, Munich, Germany.

Pediatric Gastroenterology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat-Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Department of Gastroenterology, Pediatric Inflammatory Bowel Disease Research Center, Children's Hospital of Fudan University, Shanghai, China.

Division of Hematology-Oncology, Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, MA USA.

Icahn School of Medicine at Mount Sinai, Dr. Henry D. Janowitz Division of Gastroenterology, New York, NY, USA.

Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, USA.

Sema4, Stamford, CT, USA.

10 F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

11 Division of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.

12 Hubrecht Institute-Royal Netherlands Academy of Arts and Sciences, Utrecht, the Netherlands.

13 University of Oxford, Kennedy Institute of Rheumatology, Oxford, UK.

14 Translational Gastroenterology Unit, University of Oxford, Oxford, UK; Department of Pediatrics, University of Oxford, Oxford, UK.

15 SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada. Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada.


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 diseaseunclassified (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.

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