Abstract
Background
A recent classification of high and low risk alleles associated with celiac disease (CD) shows that the presence of a single allele (DQA1*05 or DQB1*02; coding together for HLA-DQ2), without a positive genotype (HLA-DQ2 and or HLA-DQ8), represents a risk of developing the disease.
Aims
The aim of this study is to evaluate the use and interpretation of the HLA-DQ2/DQ8 genotyping by pediatric gastroenterologists, as there is no study on the matter and the latest guidelines do not address this risk classification.
Methods
A web-based survey was sent by email to all NASPGHAN (North American society of pediatric gastroenterolgy, hepatology and nutrition) members.
Results
Results 294 pediatric gastroenterologists sent a complete survey. 86,1% use the HLA-DQ2/DQ8 genotyping according mainly to the NASPGHAN and ESPGHAN guidelines. The main indications considered were to exclude CD in a patient on a gluten-free diet with a resolution of his symptoms and in a seronegative patient with equivocal biopsies. A minority would consider the genotyping for screening high risk groups or for making a diagnosis in children with high specific CD antibodies and strong clinical suspicion without performing biopsies, as suggested by the ESPGHAN guidelines. The alleles associated with CD are not well known, but 76,7% the participants are aware of the risk classification. While only 62,8% have access to the complete genotype, 47,8% consider it useful. Nevertheless, 82,6% would still want to know the presence of a low risk allele.
Conclusions
The risk classification of alleles related to CD warrants a modification of the genotyping result with access to the alleles and an adaptation of the guidelines.
Funding Agencies
None
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