Validity of histology for the diagnosis of paediatric coeliac disease: a Swedish multicentre study

Abstract

Validity of histology for the diagnosis of paediatric coeliac disease: a Swedish multicentre study.Montén, Caroline; Bjelkenkrantz, Kaj; Gudjonsdottir, Audur H; Browaldh, Lars; Arnell, Henrik; Naluai, Åsa Torinsson; Agardh, Daniel Link to publication Citation for published version (APA): Montén, C., Bjelkenkrantz, K., Gudjonsdottir, A. H., Browaldh, L., Arnell, H., Naluai, Å. T., & Agardh, D. (2016). Validity of histology for the diagnosis of paediatric coeliac disease: a Swedish multicentre study. Scandinavian Journal of Gastroenterology, 51(4), 427-433. DOI: 10.3109/00365521.2015.1101486 General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.• Users may download and print one copy of any publication from the public portal for the purpose of private study or research.• You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal AbstractObjective: Histological evaluation of intestinal biopsies for the diagnosis of celiac disease can be challenging and compatible with risk for misdiagnosis. The aim was to evaluate the agreement of pathological diagnosis for celiac disease in children investigated at four major pediatric university hospitals in Sweden. Material and Methods:Intestinal duodenal biopsies were collected from 402 children at median 9.7 years (1.4-18.3 years). A pathologist at each hospital performed the primary evaluation. A designated pathologist, blinded to the primary evaluation, performed a second Marsh classification of biopsies (M0 to M3c) taken from the bulb and duodenum separately.Kappa (κ) scores between first and second evaluation determined the agreement. Plasma samples were collected at the day of intestinal biopsy and analyzed for tissue transglutaminase autoantibodies (tTGA) using radio ligand binding assays. Results:Marsh scores were concordant in 229/356 biopsies (64%, κ=0.52, p<0.0001). Among discordant results, 15/127 (12%) showed M0 in distal duodenum but ≥M2 in the bulb, whereas the opposite was true for 8/127 (6%) of the biopsies. There were fewer collected duodenal biopsies, more missing bulb biopsies and missing CD3 staining among discordant evaluations. The second evaluation revealed a Marsh score compliant with celiac disease in 22 children of whom 7 children were tTGA positive. Conclusions:The variation between university hospitals on the pathological evaluation of biopsies may lead to misdiagnosis of celiac disease in pediatric patients. Access to clinical and endoscopic information as well as tTGA levels may be useful for the pathologist to complement the evaluation in dubious cases.

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“…2 Histologic evaluation of intestinal biopsies for the diagnosis of celiac disease bears a non-negligible risk of misdiagnosis. 26 Inter-observer discrepancy rates for diagnosis or exclusion of celiac disease are in the order of 5%À10%. 26,27 Our rate for major discrepancies, important for diagnosis, was 4.2% (local vs first reference evaluation).…”

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“…This case-control study comprised of 278 patients (174 females and 104 males) recruited as part of the GENEX study. 16 Study participants were investigated with an upper endoscopy with serial intestinal biopsies taken from the bulb and duodenum at median age 9.8 years (1.4-18.3 years) between 2010 and 2012 at the Department of Pediatrics, Skåne university hospital situated in Malmö, Sweden. At day of intestinal biopsy, serum samples from all patients were assessed for both IgA and IgG autoantibodies against tissue transglutaminase (tTGA) using radioligand binding assays previously described.…”

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