P1198 Pediatric inflammatory bowel diseases in patients with genetic syndromes: a case-control multicentre SIGENP study

Abstract

Abstract Background Genetic syndromes are associated with a strong susceptibility to autoimmune disorders with an increased risk of developing inflammatory bowel diseases (IBD). However, data regarding the impact of genetics in the development of IBD are limited (Gatti S. et al, Frontiers in Pediatrics 2021). Furthermore, patients with genetic syndromes are affected by multiple comorbidities which increase diagnostic and therapeutic complexity as well as the risk of developing adverse reactions to drugs. Methods In this retrospective, multicenter case-control study, we recruited IBD children with a genetic syndrome (cases: group 1) and 2 matched IBD patients for each case (controls: group 2) comparable for gender, age at diagnosis, type of IBD and follow-up period. IBD subjects were diagnosed at 11 Italian pediatric IBD units between 2010 and 2022. Monogenic VEO-IBD were excluded. Genetic data were collected. Clinical and disease characteristics, presence of comorbidities, use of drugs and side effects, surgical outcomes and mortality were compared at diagnosis and at the last follow-up between the 2 groups. Results A total of 23 IBD children with a genetic condition/syndrome (Table 1) and 46 matched controls were identified. In all cases, except 5 the diagnosis of IBD followed the genetic diagnosis. Thirty patients had Crohn’s disease (CD) and 39 had Ulcerative Colitis (UC). The 2 groups were comparable in terms of gender, age at diagnosis (8,9±4.6 vs 9.4±4.4 years), duration of follow up (5.6±3.4 vs 4.1±2.9 years) and severity of disease at diagnosis evaluated by w-PCDAI (34,7±23,5 vs 43,1±20,4) and PUCAI (45,3±16 vs 46,2±15,5) scores. Diagnostic delay was longer in patients with genetic conditions compared to controls, without reaching statistical significance (11,1 vs 4,6 months; p= 0,06). Prevalence of comorbidities was significantly higher in group 1 compared to controls both at diagnosis (43,4 vs 11,5%; p <0,005) and at last follow-up (39,1 vs 11,6%; p <0,02). Use of immunosuppressors, steroids and biologic drugs was similar at diagnosis and at last follow-up in the 2 groups. More IBD patients in group 1 developed side effects related to immunosuppressors (26 vs 4%; p < 0,02), while no difference was observed in biologics-related side effects. The need of surgery was comparable in the 2 groups (13 vs 13,9 %), whereas mortality was slightly higher in patients with IBD and genetic syndrome (13 vs 7%). Conclusion In pediatric IBD patients the presence of genetic syndromes does not significantly modify the course of the disease itself, but increases complexity due to the multiple comorbidities and immunosoppressive drug toxicity.