Celiac disease diagnostics begin by measuring autoantibodies, which may fail to identify seronegative patients. Duodenal lesion in the absence of antibodies is scarcely studied, especially in children.
To investigate the prevalence and diagnostic outcomes of children with seronegative duodenal lesion in two countries with different disease profiles.
Medical data, including the results of histology and transglutaminase (tTGab) and endomysium (EmA) antibody measurements were collected from 1172 Finnish and 264 Romanian children with systematic duodenal sampling. Database of 509 Finnish children with celiac disease was examined to identify earlier seronegative patients.
Celiac disease was diagnosed in 307 Finnish and 83 Romanian children in the endoscopy cohorts. No seronegative patients were found among 899 celiac disease patients, although some were only tTGab or EmA positive. Non-celiac duodenal lesion was detected in eight Finnish and 32 Romanian children, their most common diagnoses being inflammatory bowel disease and infections, respectively. Six children with morphological lesion received no diagnosis. None of them developed celiac disease during a follow-up of 3–11 years.
Pediatric seronegative celiac disease is exceptional in the era of modern autoantibodies. Other reasons for duodenal lesion should therefore be sought, bearing in mind possible differences across countries.
Abbreviations:AIE (autoimmune enteropathy), ARA (antireticulin antibody), EGD (esophagogastroduodenoscopy), EmA (endomysium antibody), HLA (human leucocyte antigen), IBD (inflammatory bowel disease), IEL (intraepithelial lymphocyte), PVA (partial villous atrophy), SVA (subtotal villous atrophy), tTGab (tissue transglutaminase antibody), TVA (total villous atrophy)
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Published online: December 30, 2019
Accepted: November 19, 2019
Received: October 21, 2019
⋆Prospective part of this study is registered at clinicaltrials.gov; trial identifying number NCT02072590.
© 2019 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.