Introduction: European guidelines for the diagnosis of celiac disease (CD) have been updated in 2020. The primary objective was to review the compliance with the diagnostic criteria for CD, according to ESPGHAN 2012. Secondarily, to describe the clinical characteristics of the patients and to assess the changes that would be implied by the application of the new 2020 criteria.
Patients And Methods: Retrospective multicenter study in which 10 centers participated. Patients from 0 to 16 years old with a new diagnosis of CD in 2018-2019 were included. Clinical, serological variables and the performance of intestinal biopsy (IB) were collected.
Results: 163 patients were included (57% female) with a median age of 7.6 years (SD 4.4). The form of presentation was: 47.8% classical, 30.7% no classical and 21.5% asymptomatic, with differences depending on age. Total IgA and anti-transglutaminase IgA antibodies were performed in all centers as the first diagnostic step. IgA anti-endomysial antibodies (EMA) were performed in 80%, and HLA haplotype in 95%. Of the total, 78 cases (47.9%) met criteria for not performing intestinal biopsy (IB). IB was indicated in the remaining 85 patients, but was not performed in 29 cases (17.8%). The performance of IB was lower in the secondary hospitals than in the tertiary ones (p < 0.05). If we applied the ESPGHAN 2020 criteria, we would disregard the HLA study, and 21 more patients would not have required IB (going from 47.9% to 60.7% of the total).
Conclusions: Discrepancies are observed in the application of the ESPGHAN 2012 diagnostic criteria due to the different accessibility to EMA and endoscopic IB in secondary centers. With the ESPGHAN-2020 criteria, around 60% of patients will be able to be diagnosed without IB, provided that the determination of EMA is ensured.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.anpedi.2020.07.008 | DOI Listing |
Dig Dis Sci
January 2025
Department of Paediatric Gastroenterology, Hepatology and Liver Transplant, Queensland Children's Hospital, Graham St, South Brisbane, 4101, Australia.
Background: Coeliac Disease (CD) affects up to 1.4% of children worldwide, with a rising global incidence. A less typical clinical presentation and the need for a life-long gluten exclusion diet raise challenges for diagnosis, management, and healthcare delivery with considerable impacts for CD patients and families as well as clinical services.
View Article and Find Full Text PDFGene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFJMIR Infodemiology
January 2025
Ankara Etlik City Hospital, Ankara, TR.
Background: YouTube is an increasingly used platform for medical information. However, the reliability and validity of health-related information on celiac disease (CD) on YouTube has not been determined.
Objective: The aim of this study was to analyse the reliability and validity of CD-related YouTube videos.
Retin Cases Brief Rep
December 2024
Department of Histopathology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Purpose: To report a case of bilateral anterior uveitis, pigmentary retinopathy, and pars plana exudates in a patient with Celiac disease with complete resolution of inflammation following gluten-free diet.
Methods: Retrospective case report.
Results: A 19-year-old Asian Indian girl presented with bilateral non-granulomatous anterior uveitis for the past 2 months.
J Pediatr Gastroenterol Nutr
January 2025
Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Stony Brook Children's Hospital, Stony Brook, USA.
Objectives: To determine if after 2 years of consuming a gluten-free diet post celiac disease diagnosis, pediatric patients who were overweight or obese at diagnosis are less likely to normalize celiac disease serologies as compared with those who were normal weight or underweight at diagnosis. Secondary aims include characterizing how initial symptoms at presentation predict body mass index (BMI) change and serology improvement over the first 2 years of being on a gluten-free diet following diagnosis of celiac disease.
Methods: A retrospective chart review was performed that included all biopsy-proven celiac disease patients followed at Stony Brook Children's Hospital's Celiac Disease Center diagnosed between the years 2007-2022.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!