Diagnosing Coeliac Disease: A Patient's Journey and the Future of Testing
Sarah Rose*
The University of Nottingham, UK Email: mzysmwa@nottingham.ac.uk *
Diagnosis of coeliac disease in paediatric patients can have a wide range of consequences, both before and after diagnosis occurs. This poster explores the diagnosis and investigation of coeliac disease from the perspective of my 6 year old patient, and the future of diagnostic testing in coeliac patients.

Coeliac disease is a systemic immune-mediated disorder caused by the ingestion of gliadin and other prolamins in wheat, rye and barley (Harris et al, 2012). It mainly affects the small intestine where the immune response causes proliferation of the epithelial cells, infiltration of lymphocytes and flattening of the intestinal mucosa (Ciclitira et al, 2005). Serological testing is the current focus of diagnosis; the NICE (National Institute of Health and Care Excellence) guidelines recommend IgA tTGA (transglutaminase antibody) and IgA EMA (endomysial antibody) serological tests as they show high levels of sensitivity and specificity for coeliac disease compared to other tests like gliadin antibody tests. IgA tTGA is the first line, and if this is equivocal (as in my patient?s case) then IgA EMA should be tested. If this is positive, referral for intestinal biopsy is the next step (National Institute of Clinical Excellence, 2009).

However, rapid progress is being made in the field of coeliac disease diagnosis with potential of HLA typing, HLA-DQ2-gliadin tetramers and deamidated gliadin peptide antibodies and it is possible that in the future, jejunal biopsy will no longer be the gold standard for diagnosis. This has the potential to be of great benefit, particularly in paediatric diagnosis.
References :
  1. Ciclitira PJ, Johnson MW, Dewar DH, Ellis HJ. The pathogenesis of coeliac disease. Mol Aspects Med. 2005 ; 26: 421-458
  2. National Institue of Clinical Excellence. Coeliac disease - CG86. London: National Institute for Health and Clinical Excellence. 2009.
  3. Harris LA, Park JY, Voltaggio L, Lam-Himlin D. Celiac disease: clinical, endoscopic, and histopathologic review. Gastrointest Endosc. 2012; 76: 625-640

DOI: 10.7199/ped.oncall.2013.25S
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