New Tools for the Diagnosis of Celiac Disease

Fernando Fernández Bañares, Carme Farré, Anna Carrasco, Meritxell Mariné, Maria Esteve


New tools for celiac disease (CD) diagnosis may be of help in at least three frequent clinical situations: 1) HLA-DQ2/8+ individuals on a self-prescribed gluten-free diet; 2) Patients with seronegative villous atrophy; and 3) HLA-DQ2/8+ patients with lymphocytic enteritis and either positive (often with low/borderline titers increasing the risk of false positives) or negative celiac serology.

The γδ+ IEL count, assessed by either immunohistochemistry or flow cytometry, may help  to identify CD patients when serology and clinical data are not conclusive, or when the histological diagnosis remains equivocal. The detection of subepithelial tissue transglutaminase antibodies seems to be very sensitive and specific in diagnosing CD in patients with potential CD or seronegative villous atrophy.  The presence of these autoantibodies reinforces the CD diagnosis in borderline cases. EmA or anti-tTG2 assay of the culture medium of intestinal biopsy specimens in patients with negative serology, but with symptoms suggestive of CD and the HLA-DQ2 and/or HLA-DQ8+, seems to be a good option to help confirm the diagnosis of CD. It also may be useful in suspected cases showing conflicting laboratory and histological data. The whole blood cytokine release assays (ELISPOT) seems to be both sensitive and specific for detection of gluten-reactive T cells in CD; further clinical studies addressing the utility of these tests in patients with an uncertain diagnosis of CD is warranted. The tetramer test may be of help to confirm the diagnosis of CD after a short 3-days gluten challenge. However, the results seem comparable to the ELISPOT test; for that reason, and also taking into account that the tetramer test is technically difficult, widespread use of the test is almost not expected.

Palabras clave

Celiac disease, ‘celiac-lite’ disease, potential celiac disease, γδ+ cells, subepithelial tissue transglutaminase antibodies, tTG2 in culture of intestinal biopsy, ELISPOT test, tetramer test

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