Diagnosis of coeliac disease without biopsy: from theory to practice

Key words: Coeliac disease, Diagnosis, Biopsy, IgA anti-transglutaminase

The aim of the present prospective study is to evaluate the clinical consequences of the last ESPGHAN and BSPGHAN guidelines for the diagnosis of Coeliac Disease (CD). All children (aged 0-18 years) diagnosed with CD from January 2011 to May 2014 at the IRCCS Burlo Garofolo of Trieste (Italy) were prospectively enrolled. Children diagnosed without a duodenal biopsy (Group 1) were matched for sex, age, and year of diagnosis to a sample of children diagnosed with a duodenal biopsy (Group 2). All patients were put on Gluten Free Diet (GFD) and followed-up for clinical condition, BMI, and laboratory tests (haemoglobin, serum anti-transglutaminase IgA antibodies) at six months and every year since diagnosis (median follow-up: 1.9 years). Adherence to GFD and quality of life of children were assessed through validated questionnaires. 51 out of 468 (11%) patients were diagnosed without a duodenal biopsy (Group 1; median age 2.1 years) and matched to 92 patients diagnosed with a biopsy (Group 2; median age 2.4 years). At the end of the follow-up the two groups resulted statistically comparable for clinical and nutritional status, serum anti-transglutaminase IgA antibodies titres, quality of life, adherence to GFD, and number of supplementary post-diagnosis medical consultations. The diagnosis of CD can be safely performed without a duodenal biopsy at least in 11% of cases. At least during a medium-term follow-up, this approach has no negative consequence on clinical remission, adherence to diet, and quality of children’s lives.