HLA-DQ2/DQ8 typing for non-biopsy diagnosis of coeliac disease: is it necessary?

Paul, Siba Prosad; Chopra, Jagrati; Vaina, Camelia Laura; Mallikarjuna, Akshatha; Basude, Dharamveer

doi:10.1136/archdischild-2019-317297

Cited by 5 publications

(10 citation statements)

References 4 publications

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“…Since implementation of the NBP in 2013 in our centre, we have observed a reduction in upper gastrointestinal endoscopy (UGIE) examination for diagnosis of CD by 50%. 6 This has contributed to significant reduction in the burden on endoscopy services and cost savings (approximately £1275 per patient) for the health service. When given the choice for diagnostic pathways, most families in our region have preferred NBP against an endoscopic biopsy.…”

Section: Study Backgroundmentioning

confidence: 99%

Evidence supporting safe diagnosis of coeliac disease in children with antitissue transglutaminase titre ≥5 times upper limit of normal

et al. 2022

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ObjectiveEuropean Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines on coeliac disease (CD) recommend that children who have IgA-based antitissue transglutaminase (TGA-IgA) titre ≥10× upper limit of normal (ULN) and positive antiendomysial antibody, can be reliably diagnosed with CD via the no-biopsy pathway. The aim of this study was to examine the relationship between TGA-IgA ≥5×ULN and histologically confirmed diagnosis of CD.MethodsData including TGA-IgA levels at upper gastrointestinal endoscopy and histological findings from children diagnosed with CD following endoscopy from 2006 to 2021 were analysed. CD was confirmed by Marsh-Oberhuber histological grading 2 to 3 c. Statistical analysis was performed using χ² analysis (p<0.05= significant).Results722 of 758 children had histological confirmation of CD. 457 children had TGA-IgA ≥5×ULN and 455 (99.5%) of these had histological confirmation for CD; the two that did not had eventual diagnosis of CD based on clinicopathological features. 114 of 457 had between TGA-IgA ≥5×ULN and <10×ULN, all had confirmed CD. The likelihood of a positive biopsy with TGA-IgA ≥5×ULN (455/457) compared with TGA-IgA <5×ULN (267/301) has strong statistical significance (p<0.00001). The optimal TGA-IgA cut-off from receiver operating characteristic curve analysis was determined to be below 5×ULN for the two assays used.Conclusion99.5% of children with TGA-IgA ≥5×ULN had histological confirmation of CD, suggesting that CD diagnosis can be made securely in children with TGA-IgA ≥5×ULN. If other studies confirm this finding, there is a case to be made to modify the ESPGHAN guidelines to a lower threshold of TGA-IgA for serological diagnosis of CD.

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Section: Study Backgroundmentioning

confidence: 99%

Evidence supporting safe diagnosis of coeliac disease in children with antitissue transglutaminase titre ≥5 times upper limit of normal

et al. 2022

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“…A multinational study (ProCeDE) involving 645 children with TGA-IgA >10xULN, all of whom subsequently had a biopsy confirmed CD, suggested that HLA-DQ2/DQ8 testing did not contribute towards the diagnostic accuracy (3) . In a recent UK based study of 124 children diagnosed via NBP, HLA-DQ2/DQ8 testing was done in 101 patients (4) . Out of 101, 100 were positive for HLA-DQ2/DQ8 haplotype, and the 1/101 who had a different HLA haplotype underwent biopsy and subsequently was confirmed to have CD (4) .…”

Section: Hla Testing Does Not Improve Accuracy Of Nbpmentioning

confidence: 99%

“…In a recent UK based study of 124 children diagnosed via NBP, HLA-DQ2/DQ8 testing was done in 101 patients (4) . Out of 101, 100 were positive for HLA-DQ2/DQ8 haplotype, and the 1/101 who had a different HLA haplotype underwent biopsy and subsequently was confirmed to have CD (4) . The revised ESPGHAN guidelines published in 2020 have excluded the need for HLA-DQ2/DQ8 confirmation for a diagnosis of CD via NBP.…”

Section: Hla Testing Does Not Improve Accuracy Of Nbpmentioning

confidence: 99%

“…A study from the Netherlands reported that the implementation of the 2012 ESPGHAN guidelines resulted in 54% reduction in endoscopy (5) . Another UK based study showed 50% reduction of endoscopies following the implementation of the ESPGHAN 2012 guidelines (4) . The estimated cost for biopsy-based diagnosis as available from a tertiary pediatric gastroenterology center based in Bristol in 2017 was £1300 (6) whereas serology based NBP diagnosis costed £65 (6) .…”

Section: Reduction Of the Need For Pediatric Endoscopiesmentioning

confidence: 99%

“…A survey of 100 consultant pediatricians in the SWE conducted in 2016-17 showed that only one-third of the respondents could state the triple criteria necessary for diagnosing CD via NBP in accordance to the ESPGHAN 2012 guidelines (8) . Regular education updates for pediatricians and general practitioners may improve proper understanding and implementation of the 2020 guidelines as CD remains a lifelong diagnosis with commitment for GFD and monitoring blood tests (4,9) .…”

Section: The Way Forwardmentioning

confidence: 99%

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Improved Adherence to the Espghan Guidelines Is Necessary for Diagnosing Celiac Disease in Children: A Single-Center Experience

Lau

Heaton

Paul

2021

Arq. Gastroenterol.

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BACKGROUND: Celiac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines published in 2012 suggested a no-biopsy pathway (NBP) for symptomatic children with IgA tissue transglutaminase (TGA-IgA) ≥10x upper limit of normal (ULN). Biopsy confirmation remained mandatory for other cases. OBJECTIVE: This retrospective case note study was aimed at evaluating the adherence to the ESPGHAN 2012 guidelines for diagnosing CD in our unit. METHODS: Forty-three cases with positive TGA-IgA were identified by a laboratory database search from January 2013 to December 2019. 6 of 43 patients were not referred for a confirmation of CD diagnosis. Data was collected on the diagnostic pathways followed, and appropriateness of adherence was compared with the existing ESPGHAN guidelines. RESULTS: A total of 37 cases were included with 35 children diagnosed with CD. 29/35 (83%) were diagnosed via the NBP;15/29 (52%) children did not meet all the criteria required for NBP, but were diagnosed and managed as having CD. 20/35 (57%) children were diagnosed with CD in adherence to the 2012 guidelines. CONCLUSION: The recommended diagnostic guidelines were frequently not implemented; adherence to the guidelines may improve following regular educational sessions. The revised 2020 ESPGHAN guidelines which exclude HLA-DQ2/DQ8 testing would address the issue of diagnosis for the 10/15 NBP cases (with TGA-IgA >10xULN) in our study who did not have HLA testing and were therefore non-adherent to the 2012 diagnostic guidelines. NBP, with the reduced need for endoscopy may be beneficial in resource limited settings.

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Diagnosing childhood celiac disease using ESPGHAN 2012 and 2020 guidelines: Tighter adherence is required!

Paul

Chan

Bailey

2020

Indian J Gastroenterol

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HLA-DQ2/DQ8 typing for non-biopsy diagnosis of coeliac disease: is it necessary?

Cited by 5 publications

References 4 publications

Evidence supporting safe diagnosis of coeliac disease in children with antitissue transglutaminase titre ≥5 times upper limit of normal

Evidence supporting safe diagnosis of coeliac disease in children with antitissue transglutaminase titre ≥5 times upper limit of normal

Improved Adherence to the Espghan Guidelines Is Necessary for Diagnosing Celiac Disease in Children: A Single-Center Experience

Diagnosing childhood celiac disease using ESPGHAN 2012 and 2020 guidelines: Tighter adherence is required!

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