In Hungary, 1-2% of the population suffer from coeliac disease according to the screening statistics, but only 15-20 000 of them have a confirmed diagnosis.
The symptoms of the disease appear during childhood in typical cases. When the symptoms are suspicious of coeliac disease, begins the check-up according to the guideline published in 2012 by the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). The decision tree of the guideline (2012) is depicted on the figure below.
ESPHGAN guideline for the diagnosis of coeliac disease in childhood
After the appearance of the suspicious symptoms, the first step is to determine the level of the transglutaminase antibody (Anti-TG2 IgA). According to the guideline, in case the transglutaminase level is ten times higher than the normal, the check-up will continue with the EMA IgA antibody level determination and the HLA DQ8/DQ2 genotype testing to make the medical diagnosis of coeliac disease or disapprove it.
According to this branch of the decision tree (left branch on the figure) children already had not been exposed to the straining, gastroscopic, intestinal biopsy. Therefore, at this branch of the decision tree, a child could have get the diagnosis of coeliac disease, when he/she owns ten times higher transglutaminase level than normal, positive EMA IgA antibody test and positive HLA DQ2/DQ8 test results.
Considering that the guideline disregards the intestinal biopsy examination in this case (which could have led to false positive diagnosis), the Prospective Celiac Disease Diagnostic Evaluation (ProCeDe) started in 2011 with the inclusion of 700, anti-TG2 IgA positive children in order to evaluate the guideline.
As a result of the evaluation, the fact has been established, that in case of the transglutaminase level is ten times higher than normal, and a second, independent blood sample gives positive EMA IgA result, it is unnecessary to do the expensive HLA DQ2/DQ8 genetic test and the straining intestinal biopsy to diagnose the coeliac disease in childhood – according to the Medical Online. The ProCeDe study has verified the hypothesis, that children have not to be exposed to intestinal biopsy in every case, and in case transglutaminase level is ten times higher than normal and EMA IgA antibody test is positive, the expensive genetic test is unnecessary.
According to the other branches of the decision tree, new observations were not made, therefore henceforward in pathological cases, when transglutaminase level is lower than ten times the normal the intestinal biopsy is not required, and in those cases when the ten times higher transglutaminase level is in pair with negative EMA IgA test result, too.
Thanks to the ProCeDe study, a number of children could get the diagnosis of coeliac disease without the straining intestinal biopsy examination and the expensive genetic test without the possibility of false positive diagnosis.