The Use of Biopsy and “No-Biopsy” Approach for Diagnosing Paediatric Coeliac Disease in the Central European Region

Abstract

Objectives The current European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) guidelines introduced the option to diagnose coeliac disease (CD) in children and adolescents without upper endoscopy if the defined criteria are met. The aim of our study was to evaluate how frequently paediatric gastroenterologists in Central Europe used the “no-biopsy” approach and how often the duodenal biopsy could have been omitted. Methods Medical records of patients aged < 19 years diagnosed with CD in 2016 from five European countries were analysed, focusing on levels of transglutaminase antibodies (TGA) at the time of diagnosis and on whether the diagnosis was confirmed using duodenal biopsy or “no-biopsy” approach. Clinical presentation and delays until final diagnosis were analysed according to diagnostic approach. Results Data from 653 children (63.9% female, median age: 7 years, range: 7 months-18.5 years) from Croatia, Hungary, Germany, Italy, and Slovenia were analysed. One fifth (n = 134) of included children were asymptomatic at diagnosis. Of 519 symptomatic children, 107 (20.6%) were diagnosed by the “no-biopsy” approach. Out of the remaining 412 children who underwent duodenal biopsies, 214 (51.9%) had TGA ≥ 10 times upper level of normal (ULN) and would have been eligible for the “no-biopsy” approach. Signs and symptoms of malabsorption were more frequent in children diagnosed without duodenal biopsies. There were no differences in diagnostic delays with respect to the diagnostic approach. Conclusion In this cohort, about 60% of symptomatic CD patients could have been diagnosed without duodenal biopsies. The aim of the “no-biopsy” approach was to make the diagnostic procedure less challenging without compromising its reliability. However, this option was applied only in 20%, in spite of fewer burdens to the family and reduced costs. The reasons for this discrepancy are unknown. Physicians should be made more aware about the reliability of CD diagnosis without biopsies when the ESPGHAN guidelines for CD diagnosis are followed.

Clinical Presentation of Celiac Disease and Diagnosis Accuracy in a Single-Center European Pediatric Cohort over 10 Years

“…Similar results on anti-tTG 10× ULN PPV have also been reported in a cohort from New Zealand [38], suggesting that 50-60% of patients could avoid EGD and biopsy by applying the new ESPGHAN criteria [38]. Moreover, another multicentric study including 412 children from Central Europe reported that 48.4% of patients could avoid EGD [39]. Lower rates of applicability of the new ESPGHAN criteria have been reported in southern Europe (154/749, 20.7%), mainly due to the unavailability of HLA testing [40].…”

“…Moreover, in line with previous studies not including healthy subjects [42,43], we found that the sensitivity of the new ESPGHAN criteria was rather low, namely 50% in our cohort, suggesting that these criteria are adequate only for ruling-out rather than ruling-in CD diagnosis. While serology's accuracy and predictive value for the non-invasive assessment of pediatric CD has been extensively reported, only few studies have focused on the number of EGD that could have been avoided [38,39,44]. In our cohort, 56.2% of EGD could have been avoided with a CD missing rate of 0%.…”

Australasian Pediatric Gastroenterologists’ Perspectives and Practices of Celiac Disease Diagnosis and Management

“…On the other hand, the current survey also found regular users of the ESPGHAN guidelines believed the integration of the no-biopsy pathway helps to reduce the need for endoscopy. This is supported by a number of studies demonstrating the potential extent of endoscopy reduction up to 60% [9,22,23,[25][26][27].…”

“…More recently (available from late 2019 as early online access), the ESPGHAN guidelines were further updated, expanding the no-biopsy criteria (tissue transglutaminase antibody IgA (TGA IgA) ≥ 10-fold the upper limit of normal and positive endomysial antibodies IgA (EMA IgA)) to include all children regardless of symptoms at presentation or at-risk groups, while the requirement of celiac HLA typing as a part of the no-biopsy pathway was also omitted [7]. The utilization of the no-biopsy pathway being part of the ESPGHAN guidelines has increasingly been recommended in worldwide clinical practices, including during the COVID-19 pandemic [8][9][10]. However, the influence of such guidelines among the practices of Australasian pediatric gastroenterologists is unknown.…”

Society for the Study of Celiac Disease position statement on gaps and opportunities in coeliac disease

“…A biopsy-free approach for those with markedly elevated serum TG2 IgA levels (>10 times the upper limit of normal of the assay) was delineated by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESGPHAN) in 2020 (ref. 36 ), but this approach has not been formally adopted by paediatric counterparts in the USA, and the more rigid non-biopsy pathway outlined in the ESPGHAN 2012 guideline was not necessarily implemented, even in central Europe 37 . Guidelines for diagnosis of coeliac disease in adults have continued to advocate for intestinal biopsy 5 , although a biopsy-avoidant approach was offered by the British Society of Gastroenterology in 2020 in the context of the COVID-19 pandemic 38 .…”