Accuracy of Serologic Tests and HLA-DQ Typing for Diagnosing Celiac Disease

  title={Accuracy of Serologic Tests and HLA-DQ Typing for Diagnosing Celiac Disease},
  author={Muhammed Hadithi and B. Mary E. von Blomberg and J. Bart A. Crusius and Elisabeth Bloemena and Piet J. Kostense and Jos W. R. Meijer and Chris J.J. Mulder and Coen D. A. Stehouwer and A. S. Pea},
  journal={Annals of Internal Medicine},
Context The value of adding HLA genetic typing to serologic testing for celiac disease is not well defined. Contribution In this prospective study of patients referred for evaluation of celiac disease, the test performance of combinations of genetic typing and serologic testing was similar to that of either strategy alone. Caution The small number of cases of celiac disease precluded meaningful comparisons of testing strategies. Implications The combination of genetic typing and serologic… 
Utility of testing patients, on presentation, for serologic features of celiac disease.
Testing for gluten-related disorders in clinical practice: the role of serology in managing the spectrum of gluten sensitivity.
Serological testing can be used to identify symptomatic individuals that need a confirmatory biopsy, to screen at-risk populations or to monitor diet compliance in patients previously diagnosed with celiac disease, Thus, interpretation of serological testing requires consideration of the full clinical scenario.
Clinical Utility of Celiac Disease-Associated HLA Testing
Assessment of the performance of HLA testing when applied to patient groups with varying characteristics and proposed evidence-based recommendations for its clinical use finds it is a practical and valuable test for most patients in whom initial evaluation for CD is inconclusive.
The potential usefulness of human leukocyte antigen typing for celiac disease screening: A systematic review and meta-analysis.
Due to its great sensitivity and low negative likelihood ratio, human leukocyte antigen-DQ2/DQ8 typing would be an appropriate test for ruling out celiac disease in the general population suffering related symptoms, and even more in at risk population.
Evaluation of Multiple Diagnostic Indicators in Comparison to the Intestinal Biopsy as the Golden Standard in Diagnosing Celiac Disease in Children
The presented methodology predicted a correct classification in more than 90% of the cases, and the single best predictors were antibodies (i.e., anti-endomysium immunoglobulin A (IgA) (EMA) and transglutaminase IgA (TGA)), followed by HLA-type and nitric oxide (NO)-metabolites.
A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways
Screening with TG2 IgA serology and requiring biopsy confirmation caused the community prevalence of CD to be substantially underestimated, and testing for HLA-DQ genes and confirmatory serology could reduce the numbers of unnecessary gastroscopies.
Serological testing for celiac disease in adults
DGP and tTG for serological testing for CD show equivalent diagnostic performance and HLA typing to exclude CD may still be controversial, but it still seems premature to diagnose celiac disease in adults based on serology alone.
Transglutaminase IgA Antibodies in a Celiac Disease Mass Screening and the Role of HLA-DQ Genotyping and Endomysial Antibodies in Sequential Testing
TTG-IgA is a robust marker when used in CD mass screening and its performance can be enhanced by sequential testing for EMA or HLA-DQ genotyping, which would reduce the number of negative small intestinal biopsies.
HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease.
Three different HLA-DQ typing kits are compared for their performance, utilization, and costs and it is found that all kits correctly identify the CD risk genes.


What are the sensitivity and specificity of serologic tests for celiac disease? Do sensitivity and specificity vary in different populations?
  • I. Hill
  • Medicine
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Either the EMA-IGA or TTG-IgA test is most useful for identifying individuals with CD, and the variability and generally lower accuracy associated with the AGA tests make them unsuitable for screening purposes.
HLA-DQ typing in the diagnosis of celiac disease
HLA-DQ2 and -DQ8 determination is useful in exclusion, probably lifelong, of celiac disease in individuals with an equivocal small bowel histological finding; the low specificity of this test must, however, be borne in mind.
The diagnostic accuracy of serologic tests for celiac disease: a systematic review.
The sensitivity of EMA and tTG tests appears to be lower than reported when milder histologic grades are used to define CD (below 90%).
Diagnostic criteria for coeliac disease: time for change?
A combination of histology, serology, morphometry and HLA typing may be helpful in equivocal cases and a combination of these diagnostic tests should be used to clarify the full breadth of the gluten sensitivity spectrum, in particular, in those cases where duodenal histology may be equvocal.
Serological screening of coeliac disease: choosing the optimal procedure according to various prevalence values.
Antigliadin antibodies are useful to screen for asymptomatic coeliac disease in non-hospital communities if antiendomysium anti-bodies are used as a confirmation test: the latter is reasonable valid alternative to duodenal biopsy.
Accuracy and cost-effectiveness of a new strategy to screen for celiac disease in children with Down syndrome.
A new, accurate, and cost-sparing 2-step strategy for screening for celiac disease in patients with Down syndrome is proposed, based on selection of the individuals with potential CD by HLA-DQ typing and on longitudinal serologic CD screening in this selected group.
New diagnostic findings in coeliac disease.
Combining new symptoms, humoral immunity, genetics and immunohistological staining can today offer a greater diagnostic scope for coeliac disease, especially in cases where clinical presentation and small bowel biopsy findings remain doubtful.
Autoantibodies to tissue transglutaminase as predictors of celiac disease.
Reliance on serum endomysial antibody testing underestimates the true prevalence of coeliac disease by one fifth.
Reliance on EmA testing to select patients for biopsy will result in significant underdiagnosis, and EmA-negative coeliac disease is common.
Molecular basis of celiac disease.
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  • Biology, Medicine
    Annual review of immunology
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CD provides a good model for HLA-associated diseases, and insight into the mechanism of this disease may well shed light on oral tolerance in humans, as well as explaining the occurrence of gluten-dependent tTG autoantibodies that is a characteristic feature of active CD.