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.
Highlights
Coeliac disease (CD) is a lifelong systemic autoimmune disorder, elicited by gluten and related prolamins in genetically susceptible individuals
Our data provided by paediatric gastroenterologist for patients diagnosed with CD in 2016 shows that only about 20% of children in Central Europe were diagnosed without duodenal biopsy, about 60% would have been eligible based on the level of TGA being higher than 10 times upper level of normal (ULN)
It has been shown that high levels of TGA accurately predict advanced histological changes of the type Marsh 2-3 in the duodenum, and no concern in misdiagnosing CD is justified
Summary
Coeliac disease (CD) is a lifelong systemic autoimmune disorder, elicited by gluten and related prolamins in genetically susceptible individuals. Defined as gluten-related enteropathy, it is one of the most common chronic illnesses with very diverse clinical presentation, involving intestinal and extraintestinal manifestations [1]. Three duodenal biopsies (initial on gluten, after treatment with a gluten-free diet, and after gluten challenge) were required for the confirmation of the diagnosis, and these criteria served worldwide as the accepted diagnostic standard for over 20 years [5]. In the revised ESPGHAN criteria, published in 1990, the need for gluten challenge for children over the age of 2 years was removed and serological tests were added to the diagnostic procedure [6, 7]. One duodenal biopsy was required for the confirmation of the diagnosis and with clinical and serological improvement after introduction of gluten-free diet; no further biopsies were needed [6]
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