Coeliac disease (CD) is an immune-mediated systemic disorder elicited by gluten and related prolamines in genetically susceptible individuals. It is characterised by the presence of a variable combination of gluten dependent clinical manifestations, CD specific antibodies, HLA-DQ2 or HLA- DQ8 haplotypes and enteropathy.
Coeliac Disease is now considered to be one of the commonest multi-organ disorders in genetically predisposed individuals and to reduce the burden of disease. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) proposed new consensus guidelines based on available evidence in 2012 for non-invasive diagnosis of CD. As over the years, the diagnostic accuracy of the serology based testing has improved significantly with more than 95% specificity of Anti Endomysial antibody IgA (Anti EMA) and Anti Tissue Transglutaminase antibody (Anti TTG) IgA. Conventionally anti-TTG has been the best screening blood test due to its high sensitivity and specificity, simpler technique and less expensive. Genetic screening has been reserved to rule out the presence of CD in suspicious cases rather than assist the diagnosis of CD.
Guideline classifies children in 2 broad categories of symptomatic and asymptomatic. It proposes not to do a biopsy for symptomatic children who carry the gene HLA DQ2/HLA DQ8 with highly positive anti TTG (>10 times) and positive EMA as shown below.
Children with either chronic diarrhoea, failure to thrive, weight loss, stunted growth, delayed puberty, amenorrhoea, iron-deficiency anaemia, nausea, vomiting, chronic abdominal pain, cramping or distention, chronic constipation, chronic fatigue, recurrent mouth ulcers, dermatitis herpetiformis like rash, pathological fracture and abnormal liver biochemistry would be included in this group. Thus, children without overt symptoms and with symptoms but not fulfilling the above criteria are recommended to have an endoscopy and biopsy.
These guidelines are being assessed in prospective studies throughout the world and may provide more insight into its application shortly. Although there are no studies from Australia its widespread application has been questioned in some retrospective studies from North America and Europe. There are some limitations in our local setting as EMA antibody has high inter-observer variability and not easily accessible in Perth Metropolitan. Long term data on the outcome of children that are diagnosed without biopsy and histology is still not available. Hence, the current recommendation for all children would be to do a duodenal biopsy for confirmation of coeliac disease until we could have more prospective data for non-invasive diagnosis using the ESPGHAN guidelines. And those patients who are keen not to have an invasive procedure be made aware of these limitations.
- Diagnosis of celiac disease: where are we heading after the ESPGHAN 2012 guidelines? J Pediatr Gastroenterol Nutr. 2014 Jul;59 Suppl 1:S13-5.
- European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):136-60.
Author competing interests- no relevant disclosures. Questions? Contact the author on 9340 8355