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Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease
Ichiro Takeuchi1, Katsuhiro Arai1, Pornthep Tanpowpong2
1Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
Insights
Very early-onset inflammatory bowel disease (VEO-IBD) requires prompt diagnosis and treatment. Early genetic testing is crucial for identifying monogenic forms of VEO-IBD in children, guiding tailored regional management strategies.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Inflammatory Bowel Disease Research
Background:
- Very early-onset inflammatory bowel disease (VEO-IBD) in children under 6 presents diagnostic and therapeutic challenges.
- A significant proportion of VEO-IBD cases are monogenic, underscoring the importance of genetic evaluation.
- Global variations in genetic variants necessitate region-specific approaches to VEO-IBD diagnosis and treatment.
Purpose of the Study:
- To summarize the epidemiology, clinical presentation, diagnostic methods, and treatment strategies for VEO-IBD within the Asia-Pacific region.
- To provide guidance for clinicians and researchers managing VEO-IBD in this specific geographical area.
- To emphasize key messages for improving early diagnosis and management of VEO-IBD and its monogenic forms.
Main Methods:
- Review of existing literature and data on VEO-IBD within the Asia-Pacific region.
- Consensus summary by the IBD Subcommittee of the Scientific Committee of the Asia-Pacific Society of Pediatric Gastroenterology, Hepatology and Nutrition (APSPGHAN).
- Focus on epidemiological trends, clinical features, diagnostic modalities, and therapeutic interventions.
Main Results:
- Endoscopic examination is identified as essential for the diagnosis of VEO-IBD.
- A high index of suspicion for monogenic forms is recommended for all children diagnosed with VEO-IBD.
- Early genetic testing is highlighted as critical for suspected cases of monogenic IBD.
Conclusions:
- The review emphasizes three core messages: the necessity of endoscopy, the likelihood of monogenic causes in VEO-IBD, and the importance of early genetic testing.
- These recommendations aim to enhance the early detection and effective management of VEO-IBD, particularly monogenic subtypes, in the Asia-Pacific region.
- Tailored, region-specific strategies are vital for optimizing outcomes in pediatric patients with VEO-IBD.
Abstract:
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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