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Published on: October 14, 2025
Pediatric inflammatory bowel disease: specificity of very early onset
Teresa Capriati1, Sabrina Cardile2, Bronislava Papadatou2
1a Artificial Nutrition Unit and Hepato-Metabolic Disease Unit , Pediatric Hospital Bambino Gesu , Rome , Italy.
Insights
Early-onset inflammatory bowel disease (IBD) (<6 years) can stem from genetic defects. Monogenic IBD-like diseases differ from standard IBD in subtypes, sex prevalence, and treatment needs.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Immunology
Background:
- Inflammatory bowel disease (IBD) incidence has risen globally.
- Genetic defects are increasingly linked to early-onset IBD (<6 years).
Purpose of the Study:
- To review and update knowledge on the specific characteristics of IBD presenting before age six.
- To differentiate between conventional IBD and monogenic IBD-like diseases in this age group.
Main Methods:
- Literature review focusing on early-onset IBD (<6 years).
- Analysis of disease phenotypes, genetic factors, and clinical outcomes.
- Comparison between monogenic IBD-like diseases and conventional IBD.
Main Results:
- Females are less frequently affected by monogenic IBD-like disorders, some with X-linked inheritance.
- Crohn's Disease (CD) subtype suggests monogenic causes, while Unclassified IBD (IBDU) is more common in conventional IBD.
- Isolated colonic location is prevalent in both IBD subsets at <6 years onset compared to later onset.
- Monogenic disorders often require aggressive treatment and carry risks of lymphoma.
Conclusions:
- Early-onset IBD (<6 years) encompasses both standard IBD and distinct monogenic IBD-like conditions.
- Understanding these differences is crucial for appropriate diagnosis and management.
- Monogenic IBD-like diseases present unique challenges requiring tailored therapeutic strategies.
Introduction:
The incidence of inflammatory bowel disease (IBD) has increased over the last 50 years. It is now recognized that several genetic defects can express an IBD-like phenotype at very early onset (<6 years).
Areas Covered:
The aim of this review was to update knowledge concerning the specificity of IBD at onset <6 years, which can include conventional/standard IBD as well as monogenic IBD-like diseases. Expert commentary: We found that females are less prone than males to develop monogenic disorders, which have X-linked heritability in several cases. Furthermore, the Crohn's Diseases (CD) subtype seems to be suggestive of monogenic disorders while Unclassified IBD (IBDU) subtype is predominantly found in conventional/standard IBD at onset <6 years. Isolated colonic location is prevalent in both the subsets of IBD at onset <6 years if compared to IBD at later onset. Monogenic disorders require more aggressive medical and surgical treatments and can be complicated by the occurrence of lymphomas.
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