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HLA genotyping as first-line screening tool for coeliac disease in children with juvenile idiopathic arthritis
  1. Andrea Skrabl-Baumgartner1,
  2. Almuthe Christine Hauer1,
  3. Wolfgang Erwa2,
  4. Jörg Jahnel1
  1. 1Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria
  2. 2Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria
  1. Correspondence to Dr Andrea Skrabl-Baumgartner, Department of Pediatrics, Medical University Graz, Auenbruggerplatz 34/2, Graz 8036, Austria; andrea.skrabl-baumgartner{at}


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.

  • Coeliac disease
  • children
  • juvenile idiopathic arthritis
  • Screening
  • HLA genotyping

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  • Contributors AS-B: conceptualised and designed the study and recruited patients and sampled data. AS-B drafted the initial manuscript and revised the final manuscript. AH: analysed data. WE: performed measurements and analysed data. JJ: helped in designing the study and revised the manuscript. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

  • Competing interests None declared.

  • Ethics approval Ethics Committee of the Medical University Graz.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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