Promoting early testing and appropriate referral to reduce diagnostic delay for children with suspected inflammatory bowel disease, a narrative review

Abstract

Background and objective: When a child with chronic gastrointestinal (GI) symptoms presents to a primary care physician or general paediatrician, the clinician is challenged with differentiating between functional or organic disease. When there is a high suspicion of inflammatory bowel disease (IBD), rapid referral to a paediatric gastroenterologist for assessment and treatment will help protect against the sequelae of a delayed diagnosis for a child. However, this must be balanced against the need for ensuring appropriate referrals and avoiding invasive diagnostic testing for those with non-organic aetiology. The objective of this narrative review was to present evidence on specific presenting symptoms, testing, and risk factors of paediatric IBD that may aid the identification of children requiring timely referral for specialist care, thereby reducing the chance of a delayed diagnosis.

Methods: Literature databases (Medline, Embase) were searched using terms specific to the population studied, and topic specific terms relating to each section of the review. Year limits were set for 2010-2022. Included papers were limited to original research, with meta-analyses considered where of benefit.

Key content and findings: Children often present with non-specific GI symptoms that may be associated with a delayed diagnosis for those with subsequent IBD. Symptoms such as rectal bleeding or weight loss may indicate the need for rapid referral. However, non-specific symptoms necessitate testing strategies to differentiate between those with possible IBD and non-organic conditions. Definitive laboratory testing for IBD is not yet available. This review outlines those metrics that should be considered and monitored, then utilised to make a comprehensive referral to tertiary care for specialist paediatric gastroenterology review. Summaries are provided relating to presenting symptoms, extra-intestinal manifestations (EIMs), and alarm symptoms in order to highlight those reported most frequently. The diagnostic accuracy and importance of interpreting faecal calprotectin (FC) levels, in conjunction with additional measures, are also outlined.

Conclusions: Diagnostic testing to effectively identify children with IBD without the need for endoscopy is not yet available. Primary care physicians and general paediatricians must, therefore, rely on interpreting a combination of symptoms, laboratory parameters, and risk factors to assess the need for specialist referral and diagnosis.

Keywords: Inflammatory bowel disease (IBD); diagnostic; laboratory parameters; referral; risk factors.