Coeliac Disease (CD) is an autoimmune enteropathy characterised by a permanent intolerance to gluten, specifically to its protein fragment, gliadin. Ingestion of this protein by individuals with the genetic predisposition induces a severe mucosal injury of the small intestine, histologically characterized by hyperplasia of the crypts, and subtotal or total atrophy of the intestinal microvilli.
The definitive diagnosis of coeliac disease is based on characteristic histological changes in intestinal biopsies, collected during endoscopy, but serological tests such as the detection of anti-gliadin, anti-tTG and anti-endomysium antibodies, offer cost-effective and less invasive methods of diagnosing CD.
In patients with coeliac disease autoantibodies are produced against endomysium - a component of smooth muscle connective tissue. The major antigen of anti-endomysium antibodies is tissue transglutaminase (tTG). Human tTG can be used in diagnostic tests to capture and detect the anti-tTG antibodies and form the basis of a very accurate screening test. It is particularly useful for pediatric patients and to reduce the need for endoscopies.
Coeliac disease is relatively common affecting about 1% of the population in europeans amd presents clinically as a range of symptoms including tiredness, lethargy, abdominal discomfort/bloating, and diarrhoea. In more advanced disease, individuals may also present with malabsorption features such as weight loss, failure to thrive and steatorrhoea.
Treating coeliac disease involves the removal of foods that contain gluten from the diet. Currently this is the only treatment and is required for life. The majority of individuals with Coeliac disease who achieve and adhere to a gluten-free diet respond well.