Serological, Genetic, and Biochemical Insights into Celiac Disease Diagnosis and Vitamin D Deficiency in Romanian Children: A Comprehensive Cohort Study

A large cohort of Romanian children suspected of celiac disease (CD) received comprehensive evaluation through this study regarding serological, genetic, and biochemical markers. This study investigated the relationships between anti-tissue transglutaminase (anti-tTG), anti-endomysium antibodies (EMAs), anti-gliadin deamidated (DGP) antibodies, and HLA genotyping. A strong association was observed between high anti-tTG IgA titers (>100 U/mL) and EMA IgA positivity, with a 95% concordance rate. Furthermore, anti-tTG IgA positive correlated with a significant prevalence of DGP antibodies, suggesting the complementary diagnostic role of DGP antibodies in equivocal cases. Genetic testing for HLA-DQ2/DQ8 alleles validated their association with celiac disease susceptibility, with 50% of the studied patients exhibiting these markers. The research reveals that vitamin D insufficiency affects a large number of children with anti-tTG antibodies, thus requiring both screening and supplementation practices. Furthermore, associations with other autoimmune conditions were explored, including thyroid and diabetes-related autoantibodies. This research demonstrates why CD diagnosis and management require a complete approach that combines serological tests with genetic evaluation and prompt intervention for related health conditions.