Early Onset IBD: Endoscopic Features

  • Serena Arrigo
  • Sara Signa
  • Arrigo Barabino


Very early onset IBD (VEOIBD) is an emerging form of pediatric IBD with distinct features in the pathogenesis and in the phenotype. The clinical pattern is often associated with isolated unclassified pancolitis, increased severity, aggressive progression, more resistant to many of standard therapy. Genetic susceptibility plays a important role in VEOIBD and above all infantile IBD can be the first isolated presentation of a primary immunodeficiency. Genetic screening is mandatory to recognize underlying genetic defect that require targeted treatment as allogeneic hematopoietic stem cell transplantation.


Very early onset inflammatory bowel disease (VEOIBD) Infantile IBD unclassified (IBD-U) Primary immunodeficiency (PID) Genetic 


  1. 1.
    Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014;147:990–1007.CrossRefGoogle Scholar
  2. 2.
    Silverberg MS, Satsangi J, Ahmad T, Arnott ID, Bernstein CN, Brant S, et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol. 2005;19(Suppl A):5A–36A.CrossRefGoogle Scholar
  3. 3.
    Levine A, Griffiths A, Markowitz J, Wilson DC, Turner D, Russell RK, et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis. 2011;17:1314–21.CrossRefGoogle Scholar
  4. 4.
    Turner D, Muise AM. Very early onset IBD: how very different ‘on average’? J Crohns Colitis. 2017;11:517–8.CrossRefGoogle Scholar
  5. 5.
    Thapar N, Shah N, Ramsay AD, Lindley KJ, Milla PJ. Long-term outcome of intractable ulcerating enterocolitis of infancy. J Pediatr Gastroenterol Nutr. 2005;40:582–8.CrossRefGoogle Scholar
  6. 6.
    Kelsen JR, Baldassano RN, Artis D, Sonnenberg GF. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease. Cell Mol Gastroenterol Hepatol. 2015;1(1):462–76.CrossRefGoogle Scholar
  7. 7.
    Snapper SB. Very-early-onset inflammatory bowel disease. Gastroenterol Hepatol (N Y). 2015;11:554–6.Google Scholar
  8. 8.
    Levine A, Koletzko S, Turner D, Escher JC, Cucchiara S, de Ridder L, et al. ESPGHAN revised Porto group for the diagnosis of inflammatory bowel disease in children and adolescents. J Pediatr Gastroenterol Nutr. 2014;58:795–806.PubMedGoogle Scholar
  9. 9.
    Benchimol EI, Mack DR, Nguyen GC, et al. Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease. Gastroenterology. 2014;147:803–13.CrossRefGoogle Scholar
  10. 10.
    Capriati T, Cardile S, Papadatou B, Romano C, Knafelz D, Bracci F, et al. Pediatric inflammatory bowel disease. Specificity of very early onset. Expert Rev Clin Immunol. 2016;12:963–72.CrossRefGoogle Scholar
  11. 11.
    Heyman MB, Kirschner BS, Gold BD, Ferry G, Baldassano R, Cohen SA, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005;146:35–40.CrossRefGoogle Scholar
  12. 12.
    Mamula P, Telega GW, Markowitz JE, et al. Inflammatory bowel disease in children 5 years of age and younger. Am J Gastroenterol. 2002;97:2005–10.CrossRefGoogle Scholar
  13. 13.
    Aloi M, Lionetti P, Barabino A, et al. Phenotype and disease course of early-onset pediatric inflammatory bowel disease. Inflamm Bowel Dis. 2014;20:597–605.CrossRefGoogle Scholar
  14. 14.
    Oliva-Hemker M, Hutfless S, Al Kazzi ES, Lerer T, Mack D, LeLeiko N, et al. Clinical presentation and five-year therapeutic management of very early-onset inflammatory bowel disease in a large North American cohort. J Pediatr. 2015;167:527–32.CrossRefGoogle Scholar
  15. 15.
    Bequet E, Sarter H, Fumery M, Vasseur F, Armengol-Debeir L, Pariente B, et al. Incidence and phenotype at diagnosis of very-early-onset compared with later-onset paediatric inflammatory bowel disease: a population-based study [1988-2011]. J Crohns Colitis. 2017;11:519–26.PubMedGoogle Scholar
  16. 16.
    Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, et al. Phenotypic and genotypic characterization of inflammatory bowel disease presenting before the age of 2 years. J Crohn Colitis. 2017;11:60–9.CrossRefGoogle Scholar
  17. 17.
    Cannioto Z, Berti I, Martelossi S, Bruno I, Giurici N, Crovella S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009;168:149–55.CrossRefGoogle Scholar
  18. 18.
    Chandrakasan S, Venkateswaran S, Kugathasan S. Nonclassic inflammatory bowel disease in young infants: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and other disorders. Pediatr Clin N Am. 2017;64:139–60.CrossRefGoogle Scholar
  19. 19.
    Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C. IBD due to PID: inflammatory bowel disease caused by primary immunodeficiencies—clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. Pediatr Allergy Immunol. 2017;28(5):412–29. Scholar
  20. 20.
    Bianco AM, Girardelli M, Tommasini A. Genetics of inflammatory bowel disease from multifactorial to monogenic forms. World J Gastroenterol. 2015;21:12296–310.CrossRefGoogle Scholar
  21. 21.
    Moran CJ, Klein C, Muise AM, Snapper SB. Very early-onset inflammatory bowel disease: gaining insight through focused discovery. Inflamm Bowel Dis. 2015;21:1166–75.CrossRefGoogle Scholar
  22. 22.
    Girardelli M, Arrigo S, Barabino A, Loganes C, Morreale G, Crovella S, et al. The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency. BMC Pediatr. 2015;15:208.CrossRefGoogle Scholar
  23. 23.
    Ledder O, Catto-Smith AG, Oliver MR, Alex G, Cameron DJ, Hardikar W. Clinical patterns and outcome of early-onset inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2014;59:562–4.CrossRefGoogle Scholar
  24. 24.
    Gupta N, Bostrom AG, Kirschner BS, Cohen SA, Abramson O, Ferry GD, et al. Presentation and disease course in early- compared to later-onset pediatric Crohn’s disease. Am J Gastroenterol. 2008;108:2092–8.CrossRefGoogle Scholar
  25. 25.
    Marx G, Seidman EG, Martin SR, Deslandres C. Outcome of Crohn’s disease diagnosed before two years of age. J Pediatr. 2002;140:470–3.CrossRefGoogle Scholar
  26. 26.
    Ruemmele FM, El Khoury MG, Talbotec C, Maurage C, Mougenot JF, Schmitz J, et al. Characteristics of inflammatory bowel disease with onset during the first year of life. J Pediatr Gastroenterol Nutr. 2006;43:603–9.CrossRefGoogle Scholar

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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Pediatric Gastroenterology and Endoscopy UnitG. Gaslini Institute—IRCCSGenoaItaly

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