Insights into coeliac disease diagnosis: a 2021-2023 overview of diagnostic approach and delays in children in Slovenia.

INTRODUCTION: Over the past decade, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) proposed the option of diagnosing coeliac disease (CD) in children without duodenal biopsy. The aim of our study was to assess the diagnostic approach in newly diagnosed children with CD in Slovenia. METHODS: In this prospective study, Slovenian paediatric gastroenterologists were invited to provide medical records of children under 19 years diagnosed with CD from March 2021 to October 2023. The analysis focused on tissue transglutaminase antibody (TGA) levels at diagnosis, diagnostic approach, adherence to ESPGHAN CD guidelines and diagnostic delays. RESULTS: Data from 160 newly diagnosed CD patients (61.9% female; median age 8 years; 16.9% asymptomatic) were available for the analysis. No-biopsy approach was used in 65% (N = 104) of children and the majority (N = 101) fulfilled all the criteria for the no-biopsy approach. Of 56 children diagnosed using duodenal biopsy, a further 10 (17.8%) would have also been eligible for the no-biopsy approach based on the very high levels of TGA. Median diagnostic delay from first symptoms to confirmation of diagnosis was 6 months (min 0 months, max 87 months). Use of the no-biopsy approach has risen significantly since 2016 (37.8% vs. 65.0%; p = 0.001) and diagnostic delays have shortened (6 vs. 7 months; p < 0.05). CONCLUSION: This prospective study highlights the frequent use of a no-biopsy approach for diagnosing CD in children in Slovenia, showing large adherence to ESPGHAN guidelines. Also, diagnostic delays have shortened over recent years, likely due to various awareness-raising projects on CD conducted during this period.

Beyond diagnosis: exploring coeliac disease incidence alongside clinical and laboratory characteristics of newly diagnosed children in Slovenia.

OBJECTIVE: Coeliac disease is characterized by a wide array of clinical presentations. The focus of our study was to comprehensively assess the clinical manifestations of coeliac disease in newly diagnosed children in Slovenia. Our objectives include estimating the incidence of the disease in children in 2022. METHODS: In this prospective study, Slovenian paediatric gastroenterologists were invited to provide patient data using medical records of children under 19 diagnosed with coeliac disease from March 2021 to October 2023. Patient data were collected through a dedicated web-based form adapted from the CD SKILLS project, including data on clinical manifestations and laboratory results. Furthermore, the study included an estimation of the incidence of coeliac disease in children and adolescents in Slovenia in 2022. RESULTS: Analysis involved data from 160 children and adolescents (median age: 8 years; 61.9% female). Overall, 16.9% were asymptomatic at diagnosis and 29.4% belonged to a high-risk group for coeliac disease. Among symptomatic cases ( N  = 133), abdominal pain was the leading symptom (44.4%), followed by anaemia (12.0%) and diarrhoea (10.5%). Malabsorption symptoms were more prevalent in very young children. Anaemia was found in 22.8 and 10.7% had abnormal alanine aminotransferase levels. The estimated incidence of coeliac disease in Slovene children in 2022 was 17.5/100 000. CONCLUSION: Abdominal pain emerged as the primary symptom of coeliac disease in children and adolescents, except in very young children where malabsorption symptoms were predominant. Our observation of a lower prevalence of abnormal liver function tests suggests subclinical coeliac disease may be less common in children. Moreover, the calculated coeliac disease incidence in Slovenia aligns with existing data.