Biopsy-Sparing Diagnosis of Coeliac Disease Based on Endomysial Antibody Testing and Clinical Risk Assessment

Interest in a biopsy-sparing diagnosis of coeliac disease in adults is growing.

To develop and prospectively validate a non-invasive diagnostic strategy for adults with suspected coeliac disease based on clinical features and endomysial antibodies (EmA).

We retrospectively enrolled adults investigated for coeliac disease with EmA and duodenal biopsy between January 2000 and December 2021 in cohort 1 and stratified according to age at presentation (< 45 years; ≥ 45 years) and alarm symptoms. We evaluated diagnostic outcomes and accuracy of EmA. A prospective validation cohort was enrolled between Jan-2022 and Dec-2023 (cohort 2).

Cohort 1 included 972 patients (641 F, mean age 42 ± 16); cohort 2 included 214 patients (145 F, 43 ± 18). In cohort 1, 35.4% were diagnosed with coeliac disease and 1.5% with non-coeliac enteropathies. Of the coeliac disease diagnoses, 173 (50.3%) were in patients < 45 years old without alarm symptoms. No concomitant major organic disorders were diagnosed in patients with coeliac disease. EmA diagnostic accuracy was 99.1% (97.4% sensitivity; 100% specificity and PPV). Regarding non-coeliac enteropathies, 87% were diagnosed among the 139 patients aged ≥ 45 years old with alarm symptoms and negative EmA. No non-coeliac enteropathies were diagnosed in patients without alarm symptoms. Findings were confirmed in cohort 2.

Low-risk adult patients could have been safely diagnosed with coeliac disease non-invasively based on EmA without endoscopy and duodenal biopsy. Older patients with alarm symptoms should undergo endoscopy with duodenal biopsy to avoid missing non-coeliac enteropathies. Further validation of our results is necessary.