Omitting duodenal biopsy in children with suspected celiac disease and extra-intestinal symptoms

Abstract

BackgroundThe aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for celiac disease (CD) diagnosis, as suggested by the new European Society for Pediatric Gastroenterology, Hepatology and Nutrition ESPGHAN guidelines.MethodsIn this retrospective study a total of 105 patients, suspected of having CD because of extra-intestinal symptoms and showing serum tissue transglutaminase antibody (anti-tTG) and anti-endomysial antibody (EMA) measurements and HLA genotyping, were considered for the final analysis (33 boys and 72 girls; age range 1.5–17.6 years).ResultsHistological findings confirmed diagnosis of CD in 97 (92.4%) patients. Forty-one patients (39%) showed anti-tTG >10 times normal values, positive EMA and positive HLA-DQ2/DQ8 (positive TT). All of them had a diagnosis of CD, therefore there were no false positive cases. Sixty-four patients were negative for the TT. In eight cases, CD was ruled out and these were considered true negative cases. In the remaining 56 negative TT patients, intestinal biopsy confirmed CD diagnosis and they were considered false negatives. Based on these results, specificity for the TT was 100% and sensitivity was 42.3%.ConclusionsOn the basis of the present study, diagnosis of CD can be reliably performed without a duodenal biopsy in children with only extra-intestinal symptoms.

Repeat Biopsy to Assess Duodenal Healing in Children With Celiac Disease and Eosinophilic Gastrointestinal Disorders

“…While duodenal biopsy is the standard of care for CD diagnosis in North America, follow-up recommendations in pediatric patients with CD are limited (7). While current clinical guidelines do not recommend follow-up biopsies, there is no consensus on the value and role of repeat biopsy in the assessment of mucosal healing after beginning and maintaining a GFD for pediatric patients (5,(8)(9)(10). Many pediatric practices rely solely on serologic findings such as tissue transglutaminase immunoglobulin A (tTG-IgA), and less commonly endomysial antibody IgA (EMA-IgA) and deamidated gliadin immunoglobulin G, following initial CD diagnosis in the assessment of duodenal healing.…”

“…Currently, the only treatment for CD is a strict, lifelong gluten-free diet (GFD) ( 4 ). Diagnosis of CD in the United States is made through endoscopic proximal small-intestine biopsy to assess intraepithelial lymphocytosis, crypt hyperplasia, villous atrophy, and inflammation ( 1 , 5 , 6 ). While duodenal biopsy is the standard of care for CD diagnosis in North America, follow-up recommendations in pediatric patients with CD are limited ( 7 ).…”