S. Chadokufa

Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years

Objectives: Inflammatory bowel disease [IBD] presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of 2 years and establish phenotypic features associated with underlying monogenicity. Methods: Phenotype data of 62 children with disease onset before the age of 2 years presenting over the past 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing. Results: In all, 62 patients [55% male] were identified. The median disease onset was 3 months of age (interquartile range [IQR]: 1 to 11). Conventional IBD classification only applied to 15 patients with Crohn’s disease [CD]-like [24%] and three with ulcerative colitis [UC]-like [5%] phenotype; 44 patients [71%] were diagnosed with otherwise unclassifiable IBD. Patients frequently required parenteral nutrition [40%], extensive immunosuppression [31%], haematopoietic stem-cell transplantation [29%], and abdominal surgery [19%]. In 31% of patients, underlying monogenic diseases were established [EPCAM, IL10, IL10RA, IL10RB, FOXP3, LRBA, SKIV2L, TTC37, TTC7A]. Phenotypic features significantly more prevalent in monogenic IBD were: consanguinity, disease onset before the 6th month of life, stunting, extensive intestinal disease and histological evidence of epithelial abnormalities. Conclusions: IBD in children with disease onset before the age of 2 years is frequently unclassifiable into Crohn’s disease and ulcerative colitis, particularly treatment resistant, and can be indistinguishable from monogenic diseases with IBD-like phenotype.

Eosinophilic gastrointestinal disease and inflammatory bowel disease in children: is it a disease continuum?

Eosinophilic gastrointestinal disease (EGID) and inflammatory bowel disease (IBD) are two distinct disorders that share some clinical manifestations but have different diagnostic criteria. In this article, we reviewed the clinical data of three children with EGID who later developed IBD. This study is a retrospective case note review that was conducted between 2007 and 2012. EGID seems to precede IBD in some subsets of children in whom the diagnosis of IBD may take a few years to fully develop.

P567 Allogeneic haematopoietic stem cell transplant (HSCT) for paediatric Crohn's disease: A case report

Conclusions: We developed a matrix-based prediction tool to aid physicians in optimizing therapeutic decisions. After stringent selection of predictors only age at first IFX, BMI and previous surgery were withheld. A younger age has been associated with primary response in several independent cohorts. BMI is also known to influence response and this is assigned to the weight based dosing of IFX. Previous surgery has also been associated with PNR and might reflect more refractory disease. The next step is to validate this matrix in an independent cohort and to construct a matrix-prediction tool for secondary loss of response.

P155 Quality Improvement Tool: 3 year outcome

Among caregivers female sex, residence in rural areas, increased disease duration and disease severity were significantly correlated with low SF-36 mental domains scores whilst high educational level and employment status were significantly correlated with higher SF-36 score in the domains of emotional role functioning and of mental health. Conclusions: 1. Family caregivers of IBD patients have impaired QoL; 2. Gender, Place of residence, Educational level, Employment status and Disease duration and severity has significant effect on caregivers’ QoL; 3. Interventions targeting caregiver’s mental health are expected to improve their QoL.