Abstract

Background: The diagnosis of celiac disease (CD) relies on well-established histological and serological bases. In the past few years, the awareness of and interest in CD has grown considerably in the medical community. However, this increased focus in CD has not been accompanied by a parallel rise in the expertise. Furthermore, a retrospective analysis has suggested diagnostic deficiencies in the community setting. Aims: We seek to evaluate: 1the level of agreement among the histological and serological diagnoses made in the community setting compared to the diagnosis made in an academic specialty center for subjects who were looking for a “second opinion”; 2the degree of concordance in the histological analysis between two expert pathologists; and 3the potential impact of misdiagnosis on patients. Methods: Original biopsy slides and pathological reports, which used for CD diagnosis in the community setting, and CD serology test results (IgA tissue transglutaminase antibodies) were analyzed in 65 consecutive patients attending our academic institution for a “second opinion” (39 of these patients were originally diagnosed with CD while in 26 cases diagnosis was ruled out). One expert pathologist (CA) reviewed original histological slides unaware of the results of the external diagnosis, and other findings. A second expert pathologist (GM) reviewed slides also without knowing these assessments. Serological tests were repeated at the institution under similar clinical conditions. Finally, an expert team also blinded of the external diagnosis made the final diagnosis on conventional criteria. Results: In 6 cases (9.2%), the quality of the original slides was considered not evaluable by the expert pathologist. Furthermore, we detected a divergent histological diagnosis between the community and academic pathologists in 12 of the remaining 59 cases (20.3%) (Cohen's kappa -κ-: 0.59). According to the expert pathologist assessment, 75% of misdiagnosed cases led to the overdiagnosed of CD. Agreement between expert pathologists was excellent (κ: 0.85). Fifty-four of 63 cases (85.7%) had congruent serology results in both settings (κ: 0.71). Globally, our “expert” team determined that 20% of the cases consulting had a divergent diagnosis than the one identified in the community setting. Overdiagnosis of CD (34.5%) was more common than cases of underdiagnosed (13.0%). Conclusion: One in every five cases that sought a “second opinion” for CD diagnosis in the community setting received a divergent diagnosis by experts. Furthermore, 27.7% of the histopathological diagnoses in the community practice were considered inadequate or misdiagnosed by an expert. In contrast, serology had greater concordance between the two settings. The degree of agreement between expert pathologists suggests that they are relevant for reducing the frequency of misdiagnosis.

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