Evaluating the prevalence of Coeliac Disease in children with Developmental Defects of Enamel
Investigators: A/Prof A James M Daveson (Wesley Medical Research) and Dr Daniel Ford (St Andrew’s War Memorial Hospital)
Undiagnosed Coeliac Disease (CD) is associated with a 3-fold increased risk of autoimmune disease (e.g. type 1 diabetes), osteoporosis and malignancy, a decreased quality of life and a 2 to 4-fold increase in mortality. Underachievement in education and working life, including a lower likelihood of obtaining a university degree, is more common in CD sufferers compared to healthy controls. Whilst undiagnosed CD can be associated with a diverse range of symptoms such as weight loss, since the advent of serological testing, many coeliac disease cases have been found with minimal symptoms. Compounding this is a long delay between presentation and diagnosis (mean of 11 years), with the progression of unrecognised ill health. In primary care, health costs of undiagnosed CD patients are attributed to more consultations, higher testing rates and specialist referrals, with significant implications for resource use in the health care setting. Alarmingly, case ascertainment from routine medical care in Australia is exceptionally low with 4 out of 5 Australians with CD remaining undiagnosed. Making the diagnosis of CD is the most effective way to combat its negative impact on health, quality of life, and health care expenditure.
As insufficient data exists to support routine population-wide screening, current screening for CD is based on active case finding of high-risk individuals. Developmental Defects of (tooth) Enamel (DDEs) are more commonly found in children with CD than in healthy controls, with the data suggesting those with a prolonged exposure to gluten (or delayed diagnosis) have more significant lesions. Children with DDEs are a highly visible cohort of potentially undiagnosed patients at high-risk for CD. Case finding efforts directed at this population could be very effective in enhancing CD detection rates.
We aim to investigate the incidence of undiagnosed CD in children presenting with DDEs in a paediatric dental clinic utilising a rapid point of care test. 300 children with DDEs will be invited to undergo a point of care test utilizing a pin prick sample of blood which will provide screening results for CD within ten minutes. This is an opportunity to establish and validate a unique screening program that offers accurate and cost-effective testing that can eventually be applied in dental clinics (mobile or office based) across Australia. Results are of substantial translational significance and are likely to be published in a high impact journal in the field of Gastroenterology.
This research supports several of CA’s research priorities including:
1. In those diagnosed with coeliac disease – c) improving our understanding of the link between coeliac disease and other conditions; and
2. In those with undiagnosed coeliac disease – a) to improve health professional awareness of coeliac disease; b) to improve diagnostic tests and pathways; and c) to define disease prevalence and the economic and health burden of undiagnosed coeliac disease.
You can find more information about the study and volunteer to participate in the clinical trial here.
Wesley Medical Research is currently seeking volunteers to participate in an additional game-changing coeliac disease research program. In an innovative research project led by Dr James Daveson, the research aims to define the minimum amount of gluten that is toxic to patients with coeliac disease. Find out more information and volunteer to participate in the clinical trial here.