Very Early Onset Inflammatory Bowel Disease: Diagnostic and Therapeutic Challenges for Pediatric Gastroenterologists

K L Nahid1, M Rukunuzzaman, K Fathema

  • 1Dr Khan Lamia Nahid, Associate Professor, Department of Paediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh;

Insights

Very early onset inflammatory bowel disease (VEO-IBD), diagnosed before age six, is rising and often presents severely. Monogenic defects are implicated, requiring early, targeted treatments beyond conventional therapies.

Area of Science:

  • Pediatric Gastroenterology
  • Genetics
  • Immunology

Background:

  • Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD with onset before six years of age.
  • VEO-IBD incidence is increasing, with a trend toward younger ages of onset.
  • It differs significantly from adult and pediatric IBD in disease characteristics and genetic factors.

Purpose of the Study:

  • To raise awareness among pediatricians about VEO-IBD.
  • To highlight the unique aspects of VEO-IBD, including its genetic basis and severity.
  • To emphasize the need for timely diagnosis and appropriate management strategies.

Main Methods:

  • Review of current literature on VEO-IBD.
  • Discussion of diagnostic challenges, including differentiating from common conditions like infections and cow's milk protein allergy (CMPA).
  • Emphasis on endoscopic confirmation of chronic intestinal inflammation.

Main Results:

  • VEO-IBD is frequently associated with monogenic defects, such as mutations in IL-10 receptor genes.
  • These genetic forms often lead to severe, refractory disease, including fistulous Crohn's disease.
  • Early intervention with biologics or hematopoietic stem cell transplantation (HSCT) may be necessary.

Conclusions:

  • Accurate diagnosis of VEO-IBD is crucial, requiring endoscopy regardless of patient age.
  • Severe VEO-IBD necessitates treatment with biologic agents and potentially surgery.
  • Understanding the genetic underpinnings of VEO-IBD facilitates targeted therapies and improved patient outcomes.

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