Coeliac disease and autoimmune disease-genetic overlap and screening.

Knut E A Lundin, Cisca Wijmenga

Journal: Nature reviews. Gastroenterology & hepatology 2016;12(9):507-15

PMID: 26303674

Abstract

Coeliac disease is a treatable, gluten-induced disease that often occurs concurrently with other autoimmune diseases. In genetic studies since 2007, a partial genetic overlap between these diseases has been revealed and further insights into the pathophysiology of coeliac disease and autoimmunity have been gained. However, genetic screening is not sensitive and specific enough to accurately predict disease development. The current method to diagnose individuals with coeliac disease is serological testing for the presence of autoantibodies whilst the patient is on a regular, gluten-containing diet, followed by gastroduodenoscopy with duodenal biopsy. Serological test results can also predict the probability of coeliac disease development, even if asymptomatic. In patients with autoimmune diseases known to occur alongside coeliac disease (particularly type 1 diabetes mellitus or thyroid disorders), disease screening-and subsequent treatment if coeliac disease is detected-could have beneficial effects on progression or potential complications of both diseases, owing to the effectiveness of gluten-free dietary interventions in coeliac disease. However, whether diagnosis of coeliac disease and subsequent dietary treatment can prevent autoimmune diseases is debated. In this Review, the genetic and immunological features of coeliac disease, overlap with other autoimmune diseases and implications for current screening strategies will be discussed.

Address: Department of Gastroenterology, Oslo University Hospital Rikshospitalet, Sognsvannsveien 20, 0378 Oslo, Norway.; University Medical Centre, Department of Genetics, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, Netherlands.
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