Background and Aims Genes encoding HLA DQ2/DQ8 are associated with celiac disease (CD) and testing for their presence has high negative predictive value for the diagnosis. The aim of this study was to assess the role of HLA typing in symptomatic individuals in whom the diagnosis of CD is uncertain.
Methods We proceded a retrospectiv study leaded on a group of children investigated for CD in “Grigore Alexandrescu” Emergency Children’s Hospital from 2007 to 2012 that underwent HLA typing. Inclusion criteria were all patient with mild enteropathy (Marsh 1, 2, 3a), moderate elevated values of tisular tranglutaminase (tTG) antibodies (between cut off point and 5 times nomal value) and poor response to gluten free diet. The medical records of all patients investigated for CD were reviewed.
Results 164 patients were performed HLA typing; 26 patients satisfied the inclusion criteria; 20 (76.9%) of these had HLA DQ2/DQ8 present and 6 (23.07%) had a negative test for HLA DQ2/DQ8. The mean age of our investigated group was 23.46 months and the mean age for HLA DQ2/DQ8 negative group was 21.08 months. Sex distribution indicated 9 boys and 17 girls. Gastrointestinal symptoms dominated: 17 children had diarrhea, 9 had failure to thrive and 13 patients had both chronic diarrhea and poor weight gain.
Conclusion Patients with clinical suspicion of CD that have moderate levels of tTG antibodies, mild biopsy changes and poor response to gluten free diet need to have HLA typing specially at younger ages (under 3 years old).