Very early‐onset inflammatory bowel disease in Japan: A nationwide survey

Abstract

Background and AimVery early‐onset inflammatory bowel disease is defined as inflammatory bowel disease diagnosed before 6 years of age. Very early‐onset inflammatory bowel disease has various differential diagnoses, including primary immunodeficiency disorders, and is known to be resistant to conventional treatment. Therefore, global attention is required to manage this challenging condition. We conducted a retrospective epidemiological survey of the number of patients, final diagnosis, and examinations performed to diagnose very early‐onset inflammatory bowel disease in Japan.MethodsA primary questionnaire about the number of very early‐onset bowel disease cases and its diagnosis was administered to 630 pediatric facilities nationwide in Japan. A secondary survey about the examinations performed to achieve diagnosis was sent to the facilities that responded to the first survey.ResultsThe answering rate was 92.2% (581/630 facilities); 81 facilities had 225 very early‐onset bowel disease patients undergoing their care during the past 68 months. Twenty‐six patients (11.6%) were diagnosed with immunodeficiency‐associated inflammatory bowel disease. The answering rate of the secondary survey was 70.4% (57/81 facilities). Colonoscopy, esophagogastroduodenoscopy, and small bowel imaging were performed for 99.4%, 67.5%, and 28.8% of patients, respectively. Genetic analysis was performed for 26.9% (43/160 patients) of patients, and 51.2% (22/43) of patients were diagnosed with immunodeficiency‐associated inflammatory bowel disease.ConclusionsApproximately 40 patients are diagnosed yearly in Japan. Imaging studies, especially for small bowel lesions, can be challenging for this unique group of patients. However, a comprehensive approach including immunological and genetic analyses appears useful for diagnosing immunodeficiency‐associated inflammatory bowel disease.

Clinical features of very early-onset inflammatory bowel disease in Japan: a retrospective single-center study

“…In a Japanese nationwide survey of VEO-IBD, which had a 92% response rate, 56%, 21%, 8%, 3%, and 12% had UC, CD, IBD-unclassified, Behçet' s disease, and immunodeficiency-associated enteritis, respectively. 16 Further, half of the patients were diagnosed under the age of 3 years, which is consistent with the findings in our study. Compared with a North American cohort of VEO-IBD in which 26% of VEO-IBD patients were diagnosed under the age of 3 years, 11 Japanese VEO-IBD patients appear to have a younger onset.…”

“…The severity of VEO-IBD varies among patients, and thus, treatment should be individualized. In a Japanese nationwide survey of VEO-IBD, which had a 92% response rate, 56%, 21%, 8%, 3%, and 12% had UC, CD, IBD-unclassified, Behçet’s disease, and immunodeficiency-associated enteritis, respectively [ 16 ]. Further, half of the patients were diagnosed under the age of 3 years, which is consistent with the findings in our study.…”

“…There have been several reports [ 6 , 10 - 12 ] on the clinical features and disease course of VEO-IBD from North America and Europe, but similar studies from other countries have been rare [ 13 , 14 ]. A multicenter, cross-sectional study of pediatric IBD involving children up to the age of 17 years [ 15 ] and a nationwide survey of VEO-IBD from 1998 to 2008 [ 16 ] were carried out in Japan, including some of the patients in this study, but the classification of IBD and the focus of these studies were different. VEO-IBD has more genetic factors for its pathogenesis [ 17 ].…”

Mucosal immune systems of pediatric inflammatory bowel disease: A review

“…In a Japanese pediatric IBD registry study, the ratio of patients with VEO‐IBD to pediatric IBD was 11.1% (27/243 patients; Table 2). 39 Furthermore, the authors conducted a national survey, as an epidemiological study of VEO‐IBD from 2011–2016 45 . A questionnaire was sent to 630 institutions nationwide, with a response rate of 92.2%.…”

“…39 Furthermore, the authors conducted a national survey, as an epidemiological study of VEO-IBD from 2011-2016. 45 A questionnaire was sent to 630 institutions nationwide, with a response rate of 92.2%. A total of 81 institutions (13.9%) treated VEO-IBD, and 225 patients were identified.…”