Journal: Journal of Gastroenterology and Hepatology
Summary:
- 630 facilities with pediatric and pediatric surgery accredited programs accross Japan were sent a questionnaire to investigate number of patients with VEO-IBD
- 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
- Mean age of onset was 27.7 months, genetic analysis was done for 43 patients with 22 patients having a molecular diagnosis
- Authors propose a diagnostic approach using Next-generation sequencing
- Endoscopic and histopathological confirmation of intestinal inflammation and exclusion of infectious process
- Immunological evaluation in presence of symptoms of Immunodeficiency disorder with genetic screening tests done in parallel
- 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