Aim The association between Down syndrome (DS) and coeliac disease (CD) was first described in 1975.1 Screening programmes for CD have utilised DQ typing in a number of studies2,3 but new guidance from the British Society of Paediatric Gastroenterology Hepatology and Nutrition (BSPGHAN)4 suggested that it is should be a key part of assessment of all patients with DS. A negative DQ 2.5, 2.2 or 8 test, in a patient would essentially rule CD out and exclude them from further testing.
We aimed to ‘road test’ the new BSPGHAN guidelines to assess their utility in clinical practice.
Subjects We looked at patients with DS aged 18 and under in our region between October 2014 and October 2015.
Methods Families with children with DS aged 18 and under in our area were contacted with an information leaflet about CD and offered testing for CD, in particular, coeliac disease genetic testing with DQ typing. Anti-TTG antibodies were measured and DQ 2.5. 2.2 and 8 typing was performed.
Results 48 patients (27 male and 21 female) were screened. The age range tested was 0.2–18.5 years, with a median age of 6 years. Overall 47.7% were DQ negative (Figure 1). No patients were found to be positive on anti-TTG testing. Figure 2 shows the breakdown of DQ types in the study. We were able to risk stratify those who were positive, (Figure 3) according to a recent position paper1.
Conclusion DQ typing is very effective in excluding children with DS from the need for further screening for CD (in nearly 50% of cases). This can be performed at the earliest opportunity in any child and should be accepted as a standard of care across the UK. All patients with the diagnosis of CD should be screened as future therapy is designed for patients with DQ2.5.
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