Diagnosis of celiac disease and applicability of ESPGHAN guidelines in Mediterranean countries: a real life prospective study.
Abstract
Background: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines
can be applied in children from countries with different resources.
Methods: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries.
Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities.
Results: There were 1974 patients enrolled in the study, mean age 4 years, 10 months; 865 male, 1109 female. CD was
confirmed in 511 (25.9%) and was unconfirmed in 1391 (70.5%) patients; 14 patients were diagnosed as having
CD according to the new ESPGHAN guidelines, 43 patients were classified as having potential CD. In all participating
countries the diagnosis of CD relied on histology of duodenal biopsy; in 5 countries, HLA, and in one country
endomysial antibodies (EMA) were not available. Symptoms did not add a significant increase to the pre-test
probability of serological tests. The positive predictive value of tissue transglutaminase type 2 (tTG) antibodies
performed with different kits but all corresponding to those recommended by ESPGHAN was 96.1% (95% CI
94–97.9%) in presence of tTG > 10xULN. In 135 patients with tTG >10xULN, HLA genotyping was performed
and in all it was compatible with CD.
Conclusions: The results of our study show that CD diagnosis still relies on intestinal biopsy in the Mediterranean
area. New ESPGHAN criteria are not applicable in 5 countries due to lack of resources needed to perform
HLA genotyping and, in one country, EMA assay. Further simplification of the new ESPGHAN guidelines might
be made according to what preliminarily the present results suggest if confirmed by new prospective studies