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- Asian–Pacific perspectives on the management of very early-onset inflammatory bowel disease
- Ichiro Takeuchi, Katsuhiro Arai, Pornthep Tanpowpong, Ming-Wei Lai, Andrew S Day, Way Seah Lee, James Guoxian Huang, Karen Sophia Calixto-Mercado, Rosanna Ming Sum Wong, Muhammad Arshad Alvi, Zubin Grover, Jung Ok Shim, Ujjal Poddar
- Intest Res 2025;23(4):405-429. Published online October 28, 2025
- DOI: https://doi.org/10.5217/ir.2025.00082
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Abstract
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ePub - Children diagnosed with inflammatory bowel disease (IBD) before the age of 6 years are considered to have “very early-onset IBD (VEO-IBD),” which is challenging to diagnose and treat. Notably, many children with VEO-IBD have monogenic forms of the disease, meaning that early genetic testing is useful. However, because the prevalence of genetic variants causing VEO-IBD differs globally, the diagnosis and treatment of this disease should be tailored to each region. In the present review paper, the IBD Subcommittee of the Scientific Committee of the Asia-Pacific Society of Pediatric Gastroenterology, Hepatology and Nutrition (APSPGHAN) has summarized the epidemiology, presenting features, diagnosis, and treatment of VEO-IBD in the Asia– Pacific region, with an aim to guide clinicians and researchers who work with VEO-IBD in this area. Our 3 main messages are as follows: endoscopy is essential for VEO-IBD diagnosis; all children diagnosed with VEO-IBD should be suspected of having a monogenic form; and children with suspected monogenic IBD should undergo early genetic testing. Our messages aim to improve the early diagnosis and treatment of VEO-IBD in the Asia–Pacific region, including the early detection of monogenic IBD in this area.
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Focused Review
- IBD
- Recent advance in very early-onset inflammatory bowel disease
- Jung Ok Shim
- Intest Res 2019;17(1):9-16. Published online November 12, 2018
- DOI: https://doi.org/10.5217/ir.2018.00130
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Abstract
PDFPubReaderePub
- Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with infantile-onset IBD have high rates of affected first-degree relatives and severe disease course. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD.
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Citations
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- Familial Mediterranean fever in Armenian children with inflammatory bowel disease
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