Objectives: We assessed the diagnostic accuracy of the anti-tissue transglutaminase IgA antibody (tTG-IgA) test compared to esophagogastroduodenoscopy (EGD) in adults with Down syndrome (DS).
Methods: Retrospective chart review of 152 adult patients with DS who were diagnosed with celiac disease (CD).
Results: Of these patients, 141 (92.8%) had a positive tTG-IgA and 11 (7.2%) had a negative result. Eighty-one (53.3%) did not have an EGD performed due to patient or legal representatives declining. Of the 71 who had a biopsy, the result of the tTG-IgA in 29 (40.8%) was a true positive, 35 (49.3%) a false positive, 2 (2.8%) a true negative, and 5 (7.0%) a false negative. The sensitivity was 85%, specificity 5%, positive predictive value 45%, and accuracy 43.7%.
Conclusions: The low specificity, accuracy, and positive predictive values of tTG-IgA in people with DS have significant clinical and financial implications in diagnosing, treating, and screening for CD in people with DS.
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