P173 Very–Early-Onset inflammatory bowel disease: Russian single centre experience
A. Shchigoleva, P. Shumilov
Pirogov Russian National Research Medical University, Faculty of Pediatrics, Moscow, Russian Federation
Background
The incidence of very early-onset inflammatory bowel disease (VEOIBD) is on the rise in Russia but the clinical data is lacking. We aim to study the disease phenotype, clinical course and the presence of primary immunodeficiency (PID) patients in this group.
Methods
Clinical records of VEOIBD patients treated in Russian State Pediatric Hospital between 2000 and 2018 were revised. In 60 patients admitted between 2016 and 2018 targeted sequencing (PID panel) was performed. 10 patients received genetic testing previously.
Results
135 VEOIBD patients were identified: 95 (70%)with ulcerative colitis (UC), 31 (23%) with Crohn’s disease, 9 (7%) with PID. In 14 (11%) IBD patients the diagnosis was changed from UC to CD and vice versa. Median time of diagnosis was 7 months in UC, 24 months in CD and 44 months in PID. The most common clinical symptoms were loose stools (UC—98%, CD—84%), bloody stools (UC—93, CD—65%), stomach ache (UC—53%, CD—52%), fever (UC—35%, CD—42%). Common laboratory features included anemia (UC—56%, CD—39%), low serum ferrum level (UC—75%, CD—61%), thrombocytosis (UC—53%, CD—45%). From 103 patients tested for ANCA 26% had positive results (24—UC, 3—CD). Mean calprotectin level (76 patients) was 750 ± 54.4 μg/g. Pancolitis was seen in UC (84%), as well as in CD (61%). Epithelioid granulomas in CD were present in 7 patients, in 5 of them they were detected years after initial diagnosis. Sixty-nine% of UC and 90% of CD patients received steroids as induction therapy, steroid-dependency was common (42% in UC and 55% in CD). Forty-nine% of patients with UC and 23% od CD patients received azathioprine, anti-TNF agents were used in 26% UC patients and 77% CD patients. In 35% of patients receiving anti-TNF biologic therapy was started before the age of 6 years. 23,8% of VEOIBD patients failed to achieve clinical remission. Total colectomy was performed in 11 patients, in 3 of them the diagnosis was subsequently changed to CD. Segmental resection was performed in 9 CD patients, in 3 of them while on therapy. The most common form of PID was XIAP deficiency (3 patients), 2 of them achieved endoscopic remission after allogenic stem cell transplantation.
Conclusion
In the VEOIBD group CD resembles UC clinically and endoscopically. A substantial number of patients requires immunosuppressive and biologic therapy before the age of 6 years. Colectomy rates are still high regardless the use of biologics. Boys with refractory VEOIBD should be screened for XIAP deficiency.