The Role of Serological Testing and HLA Genotyping in the Diagnosis of Celiac Disease in Slovak Cohort. Can Duodenal Biopsies be Omitted?

Presented analysis focuses on usefulness of consecutive celiac disease antibodies testing anti-TG2 and EMA, and HLA-DQ2/DQ8 genotyping in symptomatic children and adolescents with suspected celiac disease refered to the latest ESPGHAN guidelines (2012), that permit confirmation of celiac disease without previous duodenal biopsy. A total of 258 children and adolescents (86 male and 172 girls), aged 2 to 18 years, were retrospectively examined performance of celiac disease testing according national guidelines from 2009 included duodenal sampling and the ESPGHAN nonbiopsy criteria in a pediatric population. In applying nonbiopsy criteria to our cohort, 33,3 % (86) of symptomatic children and adolescents with such high anti-TG2 titers and positive EMA could have been initially diagnosed without an intestinal biopsy. All of them presented with advanced intestinal atrophy Marsh 2-3. Part of the rational of the study was to determine sensitivity and specificity, positive and negative predictive values of the final laboratory tests and diagnostic accuracy of the combined tests for antibodies.