Article Text
Abstract
Background Coeliac disease (CD) is an immune mediated systemic disorder strongly associated with HLA DQ2 and DQ8 haplotypes.2
In 2012 The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) recommended serology based No-Biopsy Approach to the diagnosis of CD if the following criteria are met1:
Serum levels of IgA antibodies against type–2 (tissue) transglutaminase (TGA–IgA) ≥ 10 times the upper limit of normal (≥10x ULN)
Positive endomysial antibodies (EMA–IgA) in a second serum sample
Positive coeliac HLA risk alleles DQ2 and/or DQ8
Symptoms suggestive of CD (particularly malabsorption)
These guidelines were modified in 2020 recommending:
HLA testing and presence of symptoms are not obligatory criteria for a serology based diagnosis without biopsies.3
Aim To review the practice in a Regional Paediatric Gastroenterology Centre on the uptake of No-Biopsy Approach to the diagnosis of CD comparing the 2012 and 2020 guidelines.
Design/Methods A 6-year retrospective study of all children who attended coeliac clinic at The Great North Children Hospital, Newcastle.
Data obtained using electronic patient records included TGA-IgA, EMA-IgA, symptoms at initial presentation and histopathological reports.
HLA typing results were obtained from the Regional NHS blood and transplant laboratory.
346 children with CD were reviewed in the coeliac clinic from July 2013 to July 2019. Age range 0.9 – 16.5 years (median 9.5 years) and 54% female.
Exclusion criteria include diagnosed outside study period or the UK, TGA-IgA at initial presentation unavailable for review.
Results 66% of cases had TGA-IgA ≥10xULN at initial presentation. 48% were diagnosed by serology based No-Biopsy Approach (figure1).
Duodenal biopsies were performed in 82 cases. Biopsies were performed for type1 diabetes -8.5% and asymptomatic patients with first-degree relative with CD -8.5% (figure 1).
EMA-IgA positivity was reported in 65/68 cases with symptoms attributed to CD in 62 cases in the cohort. A total of 13/62 cases had HLA risk alleles DQ2 and/or DQ8 performed (figure 2).
Conclusion(s)
HLA screening uptake was 63%. The low uptake of HLA typing may have contributed to the increased number of cases undergoing duodenal biopsies.
Based on 2012 guidelines 19% of cases had duodenal biopsies for diagnosis of CD despite meeting the criteria for no biopsy approach.
Based on 2020 guidelines 96% of cases had duodenal biopsies for diagnosis of CD despite meeting the criteria for no biopsy approach.
The changes in the CD guidelines from 2012 to 2020 have resulted in an increase from 16% to 96% of cases that may have benefitted from no biopsy approach to the diagnosis of CD.
A unifying approach to the diagnosis of the CD will reduce the variability in investigations.
The current restrictions to Aerosol Generating Procedures due to SARS–CoV –2 pandemic will have a positive impact on establishing a No–Biopsy approach to the diagnosis of CD.
References
Husby S et al. European society for paediatric gastroenterology, hepatology, and nutrition guidelines for the diagnosis of coeliac disease, 2012. JPGN 2012 Jan;54(1):136–160.
Simon Murch, Huw Jenkins, Marcus Auth et al. Joint BSPGHAN and coeliac UK guidelines for the diagnosis and management of coeliac disease. Archives of Disease in Childhood October 2013;98:806–811.
Husby S et al. European society paediatric gastroenterology, hepatology and nutrition guidelines for diagnosing coeliac disease 2020. JPGN 2020 Jan;70(1):141–156.