Very early-onset Inflammatory Bowel Disease a survey from Japan

Reference: Kudo, Takahiro, et al. “Very early‐onset inflammatory bowel disease in Japan: A nationwide survey.” Journal of Gastroenterology and Hepatology (2020).

Journal: Journal of Gastroenterology and Hepatology

Summary:

1. 630 facilities with pediatric and pediatric surgery accredited programs accross Japan were sent a questionnaire to investigate number of patients with VEO-IBD 
2. A total of 225 patients with VEO_IBD were identified, around 56% patients had Ulcerative colitis, 21% had Crohn’s disease, 8% were unclassified, 7 cases were of Behçet’s disease and 12 % patients had immunodeficiency-associated enterocolitis (IAE) with CGD, IL10R deficiency, XIAP deficiency and A20 haploinsufficiency being the commonest 
3. Mean age of onset was 27.7 months, genetic analysis was done for 43 patients with 22 patients having a molecular diagnosis 
4. Authors propose a diagnostic approach using Next-generation sequencing 
   1. Endoscopic and histopathological confirmation of intestinal inflammation and exclusion of infectious process
   2. Immunological evaluation in presence of symptoms of Immunodeficiency disorder with genetic screening tests done in parallel 
   3. Functional validation of genetic abnormalities to confirm its association with the intestinal condition 

Bottom line: Radiological, immunological and genetic  studies are important for definitive diagnosis of VEO-IBD and a comprehensive approach for diagnosis and management of these  patients should be established