Searching for the missing link in coeliac disease

Since the identification of gluten as the dietary trigger for coeliac disease in the Netherlands after the second world war, people have speculated about a “missing link” that could trigger active disease in genetically predisposed individuals who are exposed to gluten. Genetic predisposition to coeliac disease is conferred by two commonly occurring HLA variants: DQ2 and DQ8.1

Coeliac disease can present at any age. Although a historical peak in incidence occurred among children aged under 2 years, more recent data suggest that the median age of diagnosis is now 5 years (incidence 0.8-1.6/10 000), with another peak in incidence in adults in their 50s (2.3/1000).23

Coeliac disease is diagnosed using a combination of serology and duodenal biopsy.4 Importantly, negative testing for coeliac disease does not rule out the possibility of the disease developing later. Regular screening has a role in groups at high risk, including children with Down’s syndrome or …