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Genetic and flow cytometry analysis of seronegative celiac disease: a cohort study

2019; Taylor & Francis; Volume: 54; Issue: 5 Linguagem: Inglês

10.1080/00365521.2019.1608466

1502-7708

Raquel Ríos León, Laura Crespo Pérez, Enrique Rodríguez de Santiago, Garbiñe Roy Ariño, Ana de Andrés Martín, Carlota García Hoz Jiménez, Eugenia Sánchez Rodríguez, Ana Sáiz, Francisco León Prieto, Agustı́n Albillos,

Gastrointestinal disorders and treatments

Background: Seronegative celiac disease (CD) poses a diagnostic challenge.Aims: Characterize and identify differences between seronegative and seropositive CD.Patients and methods: Retrospective cohort study examining adult patients diagnosed with CD (1980–2017). Clinical, analytical, histological, genetic and immunophenotypic data were compiled. Seronegative CD was defined as a anti-tissue transglutaminase type 2 IgA and endomysial antibodies (EMA) negative and HLA-DQ2 and/or DQ8 positive, showing clinical signs of CD plus an abnormal duodenal biopsy, and responding to a gluten-free diet (GFD). Factors associated with seronegative CD were identified through binomial logistic regression.Results: Of 315 CD patients, 289 were seropositive (91.7%) and 26 seronegative (8.3%). Among the seronegative patients, higher prevalence was observed for autoimmune thyroiditis (26.9% vs. 9.7%, p = .016), HLA-DQ8 heterozygosity (23.1% vs. 2.5%, p ˂ .001) and Marsh I lesion (34.6% vs. 3.7%, p ˂ .001). The two groups showed similar flow cytometry-determined duodenal immunophenotypes and rates of refractory CD.Conclusions: Seronegative CD differs mostly in genetic (more HLA-DQ8) and histologic (milder atrophy) features as compared with seropositive. Intestinal intraepithelial immunophenotype by flow cytometry, similar in both modalities, is a useful tool to diagnose seronegative CD.