{
  "abstract": "Very Early-onset Inflammatory bowel Disease (VEOIBD) refers to children diagnosed with IBD before 6 years of age and comprises 3-15% of all paediatric IBD patients. 1 Within this group, a small cohort of patients have a monogenic cause for their IBD (0-33%).2 The paediatric IBD Porto group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition suggests careful consideration of symptoms and suggestions of monogenic causes in patients below the age of 6 years and genetic testing regardless in those under 2 years.2 We reviewed the demographics, investigations and outcomes of our patients diagnosed with VEOIBD at our centre.Twenty-seven patients diagnosed with VEOIBD between the years of 2014 and 2024 were identified at our tertiary centre. 12 were white British, 7 Pakistani and 8 were of other ethnic background. The average age at diagnosis was 45.3 months. 6 patients were under 2 years old when symptoms started. Where documented, 33.3% of patients had a family history of consanguinity and 58.3% had a family history of inflammatory bowel disease.On reviewing the presenting symptoms, 19 patients presented with bloody diarrhoea. Others were investigated for chronic diarrhoea, perianal abscess, abdominal pain and faltering growth. Average time from symptoms to diagnosis was 7.1 months. Of the 27 patients, 6 did not have faecal calprotectin checked, 3 had a faecal calprotectin of <500 and 18 had a faecal calprotectin of >500.In all patients, diagnosis was confirmed with endoscopy and histology. We reviewed investigations undertaken for causes of monogenic IBD. 19 (70%) patients had genetic testing sent, 8 did not. Of those genetic tests sent, 5 were under 2 years old. 3 patients had mutations, 2 of these were unrelated to IBD and 1 found a variant in the STXB3 gene which was not significant on functional testing. 2 patients still have results pending. Of the 8 where genetic testing was not sent, 3 were due to issues with consent or parental refusal including 1 patient who was younger than 2 years old. 1 patient is a new diagnosis, and genetic consent is awaited.Immunology testing was undertaken in 20 (74. %) patients, whilst 7 (26%) patients did not have immunology testing done. In those who had the tests, no immunological cause was found.At the time of review, 13 (48%) patients remain on biologic treatment, 7 (26%) are on Azathioprine or an aminosalicylates and 7 (26%) have been able to discontinue all medication. 4 (15%) patients failed to respond to any medical treatment including biologic therapy and underwent colectomy.Our data reflects that VEOIBD is rare and response to treatment is variable with some having aggressive disease. Genetic testing was considered in all patients under 2 years of age, with only 1 patient not having testing secondary to issues with parental consent rather than clinician decision. Immunology investigations were undertaken in all patients under 2 years. None of our patients have any significant findings on genetic or immunological testing. The variability in outcomes is interesting and is an area for further study and consideration.References Heyman MB, Kirschner BS, Gold BD, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005;146:35–40.Uhlig HH, Charbit-Henrion F, Kotlarz D, et al. Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the paediatric IBD porto group of European society of paediatric gastroenterology, hepatology and nutrition. J Pediatr Gastroenterol Nutr. 2021 Mar 1;72(3):456–473.",
  "authors": [
    {
      "affiliations": [
        "Leeds Teaching Hospitals NHS Trust"
      ],
      "name": "Rachel Mirzaali"
    },
    {
      "affiliations": [
        "Leeds Teaching Hospitals NHS Trust"
      ],
      "name": "Harriet Barraclough"
    },
    {
      "affiliations": [
        "Leeds Teaching Hospitals NHS Trust"
      ],
      "name": "Veena Zamvar"
    }
  ],
  "title": "OC86 Very early onset inflammatory bowel disease -a tertiary centre’s experience",
  "uid": "a2243c81-2bc3-57fe-aad0-b8dce19a50c9"
}