Background
Children with type 1 diabetes mellitus (T1DM), trisomy 21 (T21) and autoimmune thyroid disease (AITD) are at increased risk of developing coeliac disease (CD) and are recognised groups for targeted serological testing.¹ The 2020 ESPGHAN guidelines permit non-biopsy diagnosis in children with tissue transglutaminase IgA (TTG-IgA) ≥10× the upper limit of normal and confirmatory endomysial antibody positivity.² Evidence supports this approach in asymptomatic children from high-risk groups,³ although application in T1DM may be complicated by transient or fluctuating TTG-IgA elevation. ⁴
Aim
To evaluate real-world application of ESPGHAN non-biopsy criteria in children at increased risk of developing CD and identify opportunities to reduce invasive diagnostic testing.
Methods
A retrospective review of the Queensland Children’s Hospital CD registry included 990 children assessed between 2017–2023. Diagnostic pathways were retrospectively classified against 2020 ESPGHAN criteria, with subgroup analysis of children with T1DM, T21 and AITD.
Results
Overall, 741/990 children were diagnosed with CD and 428 fulfilled ESPGHAN non-biopsy criteria. Thirty-five (8.2%) underwent endoscopy despite meeting serological criteria. High-risk groups included T1DM (n=82), T21 (n=17) and AITD (n=16). Forty-one children across these groups fulfilled non-biopsy criteria: 31 with T1DM, six with T21 and four with AITD. Fourteen of 41 (34.1%) nevertheless underwent endoscopy, including 12/31 with T1DM and 2/6 with T21.
Conclusion
Children with conditions associated with increased CD risk can fulfil established ESPGHAN non-biopsy criteria, yet a substantial proportion still undergo endoscopic diagnosis. This was particularly evident in T1DM. Understanding whether biopsy use relates to timing of CD serology relative to T1DM diagnosis and diabetic ketoacidosis may distinguish appropriate diagnostic caution from potentially avoidable invasive testing and strengthen quality assurance of paediatric CD pathways.