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HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis
Andrea Skrabl-Baumgartner1, Almuthe Christine Hauer1, Wolfgang Erwa2
1Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.
Insights
Human leucocyte antigen (HLA) genotyping is an efficient and cost-effective method for screening coeliac disease (CD) in children with juvenile idiopathic arthritis (JIA). This approach helps identify patients at risk, reducing unnecessary testing and healthcare costs.
Area of Science:
- Immunology
- Pediatrics
- Gastroenterology
Background:
- Coeliac disease (CD) and juvenile idiopathic arthritis (JIA) frequently occur together, necessitating CD screening in JIA patients.
- The clinical relevance and cost-effectiveness of using human leucocyte antigen (HLA) genotyping for initial CD screening in children with JIA require evaluation.
Purpose of the Study:
- To assess the clinical utility and cost-effectiveness of HLA genotyping as a first-line screening tool for coeliac disease in pediatric patients diagnosed with juvenile idiopathic arthritis.
Main Methods:
- 95 children with JIA were screened for CD using specific antibodies, with positive cases confirmed by biopsy.
- HLA genotyping was performed on JIA patients and 110 age- and sex-matched healthy controls.
- Cost-effectiveness analysis compared genotyping with traditional screening methods.
Main Results:
- Coeliac disease was diagnosed in 4.2% of JIA patients, a significantly higher rate than in controls.
- 27.4% of JIA patients carried risk genotypes for CD.
- All CD-positive patients possessed the HLA-DQ2.5 genotype; 22 patients were identified as high-risk for developing CD based on HLA genotyping.
Conclusions:
- Absence of HLA-DQ2/DQ8 genotypes effectively identifies JIA patients not at risk for CD, obviating the need for repeated serological testing.
- HLA genotyping is currently the most efficient and cost-effective strategy for screening coeliac disease risk in children with JIA.
Objectives:
Coeliac disease (CD) and juvenile idiopathic arthritis (JIA) often coexist. This association warrants assessment for CD in patients with JIA. We evaluated the clinical relevance and cost-effectiveness of human leucocyte antigen (HLA) genotyping in first-line screening for development of CD in children with JIA.
Patients And Interventions:
95 patients with JIA were screened for CD using CD-specific antibodies. In case of positivity, a small intestinal biopsy was performed to confirm diagnosis. In addition, HLA genotyping was performed. 110 age-matched and sex-matched Caucasian children from the same geographical area served as controls.
Results:
CD was diagnosed in 4 of 95 patients with JIA (4.2%), a rate significantly higher compared with controls (p<0.02) and 14 times higher than in the general population. Twenty-six patients (27.4%) had one of the variants of the risk genotypes. All four patients diagnosed with CD had a HLA-DQ2.5 genotype: one was homozygote, the remainder heterozygote. Twenty-two patients are, judging by their HLA genotypes, at risk of developing CD and require repeated serological screening. None of the 69 patients without HLA-DQ2/DQ8 genotypes had CD-specific antibodies. Screening with HLA genotyping becomes cheaper than screening without after the second determination.
Conclusions:
In our cohort of patients with JIA, lack of HLA-DQ2/DQ8 genotypes identified a majority not at risk of CD in whom repeated serological testing is unnecessary. Genotyping is nowadays the most efficient and cost-effective way to screen for CD risk in JIA.
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