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Human Leucocyte Antigen Genotyping in Celiac Disease: Reasons for Inappropriate Use
Insights
Human Leukocyte Antigen (HLA) testing for celiac disease (CD) is often requested inappropriately. Over 30% of tests were unnecessary, frequently when diagnosis was already clear from other findings.
Area of Science:
- Immunogenetics
- Gastroenterology
Background:
- Celiac disease (CD) is an autoimmune disorder requiring lifelong gluten avoidance.
- Human Leukocyte Antigen (HLA) genotyping can aid CD diagnosis, particularly when autoantibodies are inconclusive.
Purpose of the Study:
- To evaluate the appropriateness of Human Leukocyte Antigen (HLA) testing requests in patients evaluated for celiac disease.
- To identify reasons for the misuse of HLA genotyping in CD diagnostics.
Main Methods:
- Retrospective analysis of 115 patients tested for CD-related HLAs.
- Re-evaluation of final diagnoses, test indications, serological, and histopathological findings.
Main Results:
- 30.4% of HLA tests were deemed inappropriate.
- Common reasons for inappropriate testing included conclusive serology/biopsy results (42.9%) or testing serology-negative patients without supporting evidence (31.4%).
Conclusions:
- Thorough patient data evaluation is crucial before ordering HLA typing for celiac disease.
- Optimizing HLA test requests can improve diagnostic efficiency and resource allocation.
Background:
Celiac disease (CD) is an autoimmune enteropathy, which may need further Human Leukocyte Antigen (HLA) testing beyond autoantibodies for diagnosis due to the necessity of lifetime gluten restriction. HLA genotyping test is useful in certain scenarios for CD diagnosis and screening. The aim of this study was to evaluate the reasons for inappropriate requesting of HLA testing.
Methods:
One hundred and fifteen patients, who had been tested for CD-related HLAs, were included in this study. Final diagnosis, indication of HLA test, serological and histopathological findings were re-evaluated to determine the inappropriate usage of HLA testing.
Results:
Among all patients, 44 (38.2%) were diagnosed with CD according to their genotyping results. The frequency of DQ 2.5, DQ8 and DQ2.2 haplotypes among these patients was 57.2%, 28.2%, and 14.3%, respectively. HLA test was performed inappropriately in 35 (30.4%) of patients. The most common reason was serology and pathological findings of patients were already conclusive as CD in 15 (42.9%) patients. Serology negative patients were tested without any supporting finding of CD in 11 (31.4%) patients. Last identified reason was that patients whose serology and intestinal biopsy were not conclusive as CD in 9 (25.7%) patients.
Conclusions:
Before requesting HLA typing test, patient's data should be thoroughly evaluated to confirm the need for test.
