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Abstract: Coeliac disease (CD) is a lifelong systemic autoimmune disorder elicited by gluten and related prolamines in genetically susceptible individuals and is one of the most common chronic diseases, affecting about 1% of the population. It has a very diverse clinical presentation, involving intestinal, extraintestinal and even asymptomatic presentations. Due to its genetic background, CD is more common among family members of affected individuals and is associated with a number of other conditions. The diagnosis of CD is traditionally based on the presence of a specific immune response and characteristic histological changes in the small intestinal mucosa. In the recently published European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines, the initial diagnostic step is determination of CD-specific IgA autoantibodies against type-2 (tissue) transglutaminase. Positive autoantibodies imply a high probability of mucosal atrophy. To confirm the diagnosis, an upper endoscopy with multiple duodenal biopsies should be performed. However, ESPGHAN guidelines for the past eight years allow paediatric gastroenterologists to diagnose the disease without intestinal biopsy when certain criteria are met. The only available treatment for CD is a lifelong strict gluten-free diet, which should only be initiated after firm confirmation of the diagnosis. Patients have to avoid all gluten-containing products, including products from wheat and wheat cultivars, rye, barley, Khorasan wheat, triticale and bulgur. Owing to the high likelihood of cross-contamination, avoidance of oats is also recommended in many regions. Despite being one of the most common lifelong disorders, CD still remains undiagnosed for a long time in many adult and paediatric patients. Diagnostic delays in some regions exceed 10 years, which can have important adverse effects on patients’ health and quality of life. The aims of our study were to analyse the clinical presentation of CD in children and adolescents in selected Central European (CE) countries, to evaluate the compliance with current ESPGHAN guidelines for diagnosing CD in children and adolescents, to assess the diagnostic delays in children and adolescents with CD in selected CE countries, to identify possible regional differences, and to determine whether the clinical presentation or the diagnostic approach influence diagnostic delays. The study was carried out as a part of the Focus IN CD project with twelve project partners from five CE countries (Croatia, Germany, Hungary, Italy, and Slovenia). Paediatric gastroenterologists from the included regions were encouraged by the regional project partners to complete a web-based questionnaire, providing anonymised medical records of children and adolescents below 19 years of age who were diagnosed with CD in 2016. The questionnaire was translated into the languages of all project partners and focused on the onset of the CD-related symptoms, clinical presentation, diagnostic approach, and the results of all performed tests. The medical records of children and adolescents were then analysed, and the results compared regionally. We found that a non-classical clinical presentation and asymptomatic disease are becoming more common, and the classical clinical presentation with malabsorption syndrome less frequent in children and adolescents with CD. Abdominal pain was found to be the most common leading symptom in children older than three years, whereas, in very young children (
Keywords: coeliac disease, children, adolescents, Central Europe, clinical presentation, management, diagnostic delays
Published in DKUM: 18.03.2021; Views: 2145; Downloads: 97
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