title: Validity of histology for the diagnosis of paediatric coeliac disease: a Swedish multicentre study.
abstract: OBJECTIVE Histological evaluation of intestinal biopsies for the diagnosis of coeliac disease can be challenging and compatible with risk of misdiagnosis. The aim was to evaluate the agreement of pathological diagnosis for coeliac disease in children investigated at four major paediatric university hospitals in Sweden. MATERIALS 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 analysed for tissue transglutaminase autoantibodies (tTGA) using radioligand-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 coeliac disease in 22 children of whom seven children were tTGA positive. CONCLUSIONS The variation between university hospitals on the pathological evaluation of biopsies may lead to misdiagnosis of coeliac disease in paediatric 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.
authors.affiliation: a Department of Clinical Sciences , Diabetes & Celiac Disease Unit, Lund University , Malmö , Sweden ;
authors.forename: Caroline
authors.initials: C
authors.lastname: Montén
authors.affiliation: b Department of Pathology , Unilabs , Stockholm , Sweden ;
authors.forename: Kaj
authors.initials: K
authors.lastname: Bjelkenkrantz
authors.affiliation: c Department of Pediatrics , Queen Silvia Children's Hospital, Sahlgrenska Academy , Gothenburg , Sweden ;
authors.forename: Audur H
authors.initials: AH
authors.lastname: Gudjonsdottir
authors.affiliation: d Department of Clinical Science & Education , Karolinska University Hospital, Karolinska Institutet, Södersjukhuset , Stockholm , Sweden ;
authors.forename: Lars
authors.initials: L
authors.lastname: Browaldh
authors.affiliation: e Department of Pediatric Gastroenterology , Hematology and Nutrition, Karolinska University Hospital, Karolinska Institutet , Stockholm , Sweden ;
authors.forename: Henrik
authors.initials: H
authors.lastname: Arnell
authors.affiliation: f Department of Microbiology & Immunology , Institute of Biomedicine, Sahlgrenska Academy at the University of Gothenburg , Gothenburg , Sweden.
authors.forename: Åsa Torinsson
authors.initials: ÅT
authors.lastname: Naluai
authors.affiliation: a Department of Clinical Sciences , Diabetes & Celiac Disease Unit, Lund University , Malmö , Sweden ;
authors.forename: Daniel
authors.initials: D
authors.lastname: Agardh
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002446:Celiac Disease / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004386:Duodenum / Q000473:pathology; D005260:Female; D006785:Hospitals, University; D006801:Humans; D007223:Infant; D008297:Male; D015203:Reproducibility of Results; D012189:Retrospective Studies; D013548:Sweden
keywords: Coeliac disease; Marsh classification; children; tissue transglutaminase autoantibodies