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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.
Abstract:
Very early onset inflammatory bowel disease (VEO-IBD) is called when age of onset of IBD occurs below 6 years. Though it is rare, it has been increasing over last decade with decreasing age of onset. VEO-IBD is different compared with pediatric and adult-onset IBD in many aspects, including the disease type, location of the lesion, disease behavior and genetic susceptibility. These children with VEO-IBD are usually present with more severe disease than older children and adults. VEO-IBD is associated with monogenic defect. The thought of a monogenic cause of VEO-IBD was first confirmed by the detection of mutations of interleukin 10 (IL-10) receptor genes that cause impaired IL-10 signaling. Monogenic IBD possesses significant concern because it usually presents with refractory to conventional IBD treatment or fistulous Crohn's disease, so early treatment with biologics or an alternative approach such as hematopoietic stem cell transplantation (HSCT) might be looked-for. Before establishing IBD, we must think of more common diseases of this age group. Infection and Cow's milk protein allergy (CMPA) are two common conditions and it can cause severe colitis. Confirmation of chronic intestinal inflammation by endoscopies is of greatest significance for the diagnosis of IBD. There should be no age limit for performing endoscopies. Severe disease should be treated with biologic agents and surgery. Identification of genes associated with IBD leads to better understanding of its pathogenesis, which could help to provide more targeted interventions. We discuss the topic here to create awareness among Pediatricians so that the patients can be benefited.
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