Very Early Onset-IBD: evidence for the need of a multidisciplinary approach

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Immunology

Background:

• Very early onset inflammatory bowel disease (VEO-IBD), defined as onset before age 6, accounts for a significant portion of pediatric IBD cases.
• VEO-IBD exhibits distinct characteristics compared to adult IBD, including increased severity, poor response to standard therapies, and a higher prevalence of underlying monogenic disorders.
• Histological findings in VEO-IBD can mimic other pediatric gastrointestinal conditions, complicating differential diagnosis.

Purpose of the Study:

• To highlight the unique clinical and diagnostic challenges posed by VEO-IBD.
• To emphasize the importance of identifying underlying monogenic defects in VEO-IBD patients.
• To advocate for a collaborative approach in diagnosing and managing VEO-IBD.

Main Methods:

• Review of clinical characteristics of VEO-IBD patients.
• Analysis of histological findings in gastrointestinal biopsies.
• Discussion of genetic and immunologic aspects of VEO-IBD.
• Emphasis on differential diagnosis and management strategies.

Main Results:

• VEO-IBD patients often experience a more severe disease course and reduced responsiveness to conventional treatments.
• A substantial proportion of VEO-IBD cases are linked to monogenic disorders, which can present with comorbidities like primary immunodeficiency (PID).
• Diagnostic challenges arise from overlapping histological features with other pediatric GI diseases.

Conclusions:

• Accurate diagnosis of VEO-IBD is critical due to its distinct clinical behavior and potential for underlying genetic causes.
• Failure to recognize monogenic defects can lead to suboptimal or even harmful therapeutic interventions.
• A collaborative approach involving pediatricians, pathologists, geneticists, and immunologists is essential for effective VEO-IBD management.