Clinical and biological correlations in celiac disease in children: the prospective single experience of a romanian tertiary center

Celiac disease-a chronic inflammatory disease of the intestine-is triggered by gluten or associated protein consumption. The aim of our study was to assess the sensitivity, specificity of the combined anti-transglutaminase 2 (TG(2))/deamidated gliadin peptide antibodies (DGP), and antiendomisium antibodies (EMA), to determine the distribution of HLA-DQ(2)/DQ(8) for the 140 tested patients, and also to evaluate the clinical and laboratory characteristics of patients admitted with the suspicion of celiac disease (CD). Children included in the study were divided into: group 1, patients with confirmed CD; group 2, patients with "potential" CD; group 3, control group, patients without CD. We assessed the standard laboratory data, the level of TG(2)/DGP and EMA antibodies, as well as the distribution of HLA molecules in the selected patients. Histopathological examination was considered the criterion standard for diagnosis in most cases. The sensitivity of TG(2)/DGP was 85% and the specificity 92%. EMA showed a sensitivity of 82% and a specificity of 98%. The vast majority of patients diagnosed with CD were either HLA-DQ(2.5) (encoded by DQA(1)*05 & DQB(1)*02) positive (87.5%) or HLA-DQ(8) (encoded by DQB(1)*03:02) positive (12.5%). One patient showed a positivity only for HLA-DQ(2.2) (encoded by DQA(1)*02 & B-1*02). Our study showed that the genetic risk for CD was present in more than one-third of the cases without a confirmed diagnosis of CD. Therefore, the awareness of genetic susceptibility for CD is essential because of the fact that these individuals can develop the disease at any point of their lives. The sensitivity of TG(2)/DGP and EMA were very similar, whereas EMA presented a higher specificity as that of TG(2)/DGP.