Abstract

The role of a positive family history in pediatric inflammatory bowel disease (IBD) in the era of biologic therapy has not been elucidated. We retrospectively reviewed the medical records of children with IBD and retrieved demographic and clinical characteristics, including the presence of a positive family history of IBD, IBD phenotype, disease course, and therapy. Overall, 325 children (age range at diagnosis 11-15years) were included, of whom 82 (25.2%) had a positive family history. Children diagnosed during 2016-2020 had a higher frequency of positive family history compared to those diagnosed during 2010-2015 (31.8% versus 20.7%, respectively, p = 0.024). Children with a positive family history had a higher risk for a stricturing phenotype than those with a negative family history (11.3% versus 2.8%, respectively, p = 0.052). They more often received nutritional therapy (53.7% versus 36.6%, p = 0.007) and less often received corticosteroids (36.6% versus 52.7%, p = 0.012). More children with a negative family history needed intensification of biologic therapy (p = 0.041).Conclusion: The rate of a positive family history of IBD in the pediatric IBD population is increasing. A positive family history may have some impact upon IBD phenotype but none on IBD outcome. What is Known: •Familial clustering of inflammatory bowel disease (IBD) has been reported in 5%-15% of IBD patients. •The investigation of the impact of a positive family history upon IBD characteristics and severity revealed conflicting results. What is New: •In this cohort of 325 children with IBD, 25.2% had a positive family history. •The rate of a positive family history of IBD in the pediatric IBD population is increasing. •A positive family history may have some impact upon IBD phenotype but none on IBD outcome.

Highlights

  • Inflammatory bowel disease (IBD) is a chronic systemic inflammatory condition comprised of Crohn’s disease (CD) and ulcerative colitis (UC)

  • A positive family history may have some impact upon inflammatory bowel disease (IBD) phenotype but none on IBD outcome

  • Study population A total of 325 children with IBD were included in the study

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Summary

Introduction

Inflammatory bowel disease (IBD) is a chronic systemic inflammatory condition comprised of Crohn’s disease (CD) and ulcerative colitis (UC). The disease is triggered and perpetuated by a complex interplay between genetic predisposition, dysregulated immune responses, and environmental factors [1, 2]. Familial clustering of IBD has been documented in numerous studies that reported a 5%-15% positive family history of IBD in both CD and UC [3,4,5,6]. A positive family history is considered a major risk factor for developing IBD [5, 7, 8]. Twin studies [9] have strengthened the significant role of genetic factors in the pathogenesis of IBD. A familial clustering of IBD reflects the genetic component of IBD, but it may provide evidence of exposure to common environmental factors [10]

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