Introduction

Celiac disease (CD) is an immune-mediated systemic disease, triggered by the ingestion of gluten, which only develops in genetically predisposed individuals. The main characteristics of the disease are the gluten-dependent small intestinal mucosal lesion, villous atrophy and crypt hyperplasia, and the production of the specific serum autoantibodies. The gold standard for diagnosis has been based on the biopsy findings. In 2012, new ESPGHAN diagnostic guidelines removed the necessity of duodenal biopsy in symptomatic children showing a high serum transglutaminase 2 titers (TG2-IgA) together with the presence of endomysial antibodies (EmA) and HLA DQ2 and/or DQ8.

Aims & Methods

Our aim was to assess the clinical outcome of the diagnostic change in children by comparing new serology-based diagnosed patients to the biopsy-based ones.
We conducted a retrospective analysis of data collected from the medical charts of the patients diagnosed during a four-year period, from 2010 to 2014, being a time overlapping the guideline change. From a total of 63 patients, 30 were biopsy-diagnosed and 33 diagnoses were based on serology only. Clinical data and laboratory parameters were compared between the groups at diagnosis and at follow-ups at 1 year, 2 years and at their latest follow-up visit during the gluten-free diet (GFD) treatment, median time 8.7 years for the serology-based group and 10 years for the biopsy-based group.

Results

Our results show clear improvement upon GFD in gastrointestinal symptoms in both groups. However, there was a general trend for better treatment outcomes in the biopsy-based group compared to the serology-based group at 1 and 2 years of follow-up. Body mass index Z score was in the biopsy group at baseline -1.5, at 1 year on GFD -0.2 and at 2 years -0.2. The corresponding results in the serology group was -1.51, -0.8 (p=0-056), and -1.35 (p=0.023). Anemia was observed in the serology group at one year as frequently (25%) as at baseline (26.7%) but in the biopsy group improvement from baseline was seen, 27.4% to 7.1 % of patients. At two years, anemia was present in 16.6% of patients. Ferritin values were significantly lower in the serology group at one year (27.5 µg/L vs 59, p=0.040) but not anymore at 2 years. After two years on GFD both TG2-IgA and EmA were often still above the cut-off for positivity in both diagnostic groups (serology group 58.3 % and 50% respectively and in the biopsy group somewhat less, 50% and 28.6% respectively). At long term, no anemia was present anymore. However, 4 children from serology group and 8 from the biopsy group showed antibodies above cut-off even after 8.7 and 10 years of treatment, respectively. Upon long-term follow-up the patients from the biopsy-proven group seemed to be more compliant with the follow-up visits and more adherent to the gluten-free diet.

Conclusion

Both clinical and laboratory results show slow recovery upon gluten-free diet. High percentage of autoantibody positivity still at 2 years on GFD indicates substantial amounts of gluten in the diet. Biopsy-proven patients seemed to have a faster recovery than the serology-diagnosed. Serological diagnosis also appears to negatively influence the adherence and compliance to treatment and follow-up. Novel (drug/vaccine) treatments adjunctive to GFD are an unmet need also in children. Duodenal mucosal recovery results on long-term GFD are warranted.