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Published on: June 24, 2020
Distinct phenotype of early childhood inflammatory bowel disease
Thankam Paul1, Audrey Birnbaum, Deb K Pal
1Division of Pediatric Gastroenterology, Nutrition and Liver Disease, Hasbro Childrens Hospital, Brown Medical School, Providence, RI, USA. Thankam_Paul@brown.edu
Insights
Early-onset inflammatory bowel disease (IBD) in children under five presents differently than in older children, often affecting the colon. Early-onset ulcerative colitis (UC) shows a higher familial aggregation, suggesting distinct genetic factors.
Area of Science:
- Pediatric Gastroenterology
- Inflammatory Bowel Disease (IBD) Research
- Genetics of Childhood Diseases
Background:
- The clinical presentation of inflammatory bowel disease (IBD) in very young children (early-onset, under 5 years) is not well-characterized.
- Existing IBD research often assumes a uniform disease phenotype across all childhood age groups.
Purpose of the Study:
- To compare the clinical presentation of early-onset IBD with typical adolescent-onset IBD.
- To investigate the variability of familial aggregation in childhood IBD.
Main Methods:
- Analysis of data from 413 pediatric IBD outpatients (1995-2000).
- Comparison of disease type, anatomical distribution, and family history between early-onset (under 5 years) and later-onset (5-15 years) IBD patients.
Main Results:
- Early-onset IBD predominantly presented with colonic disease, particularly ulcerative colitis (UC).
- Early-onset Crohn's disease showed a higher frequency of isolated colonic involvement (76.5%) compared to ileocolic disease in older children.
- First-degree family history was significantly higher in early-onset UC (26%) versus older UC patients (11%).
Conclusions:
- A distinct phenotype for early childhood-onset IBD is identified, characterized by colonic disease prevalence and high familial aggregation in UC.
- These findings highlight the need for precise phenotype definition in IBD research to identify susceptibility genes.
- Early-onset UC is a promising cohort for further genetic analysis due to its distinct characteristics.
Goals:
Our goals were to answer 2 questions: (1) Is the presentation of early-onset inflammatory bowel disease (IBD) similar to typical adolescent-onset IBD? (2) Is there variability in familial aggregation in childhood IBD?
Background:
The phenotype of IBD in children under 5 years of age (early-onset) is poorly defined. Clinical and genetic studies of IBD, however, generally assume the phenotype to be homogenous throughout childhood.
Study:
We analyzed data from 413 consecutive pediatric IBD outpatients attending our center between 1995 and 2000. Disease type, anatomic distribution, and family history were compared between children presenting before (early-onset) and after the age of five (5 to 15 y).
Results:
Disease presentation was predominantly colonic in early-onset IBD, most patients presenting with ulcerative colitis (UC). Isolated colonic disease was most frequent in early-onset Crohn disease (colonic 76.5%, ileocolic 24%) compared with ileocolic disease (ileocolic 45.5%, colonic 26%, ileal 19.4%, proximal 6.3%) in the older age group. First-degree family history was highest in early-onset UC 26% versus 11% in the older UC group.
Conclusions:
We describe a distinct phenotype of early childhood onset IBD, with a strikingly high familial aggregation in UC and greater tendency to present with colonic disease. As more genetic heterogeneity is identified in IBD, careful definition of phenotype is required to identify further susceptibility genes. The early-onset form of UC presents an ideal group for further genetic analysis. These phenotype differences also suggest that treatment and outcome may vary in early-onset childhood IBD; prospective studies are required to confirm this.
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