Coeliac disease is an autoimmune disease causing damage to the small intestine in response to eating gluten (the protein portion of wheat, rye and barley). In Australia 1 in 70 people are affected with 4 out of 5 Australians with Coeliac Disease being undiagnosed.
Signs and Symptoms of Coeliac Disease
Fatigue
Nutritional deficiencies, particularly Iron and Calcium
Weight Loss
Mouth Ulcers and dental enamel defects
Premature osteoporosis
Problems with liver function tests
High risk categories for Coeliac Disease
Those with another Autoimmune Condition eg: Thyroid disease, Type 1 diabetes, Addisons disease, Sjogrens syndrome, autoimmune liver disease
Dermatitis herpetiformis
Downs Syndrome
Turners syndrome
Whist many of those with Coeliac disease are seemingly symptom free, a major symptom is the damage being done to the small intestine, the vili in the slinign of the small intestine (small bowel) where nutrients are absorbed.
Treatment is via a lifelong Gluten Free Diet.
TESTING FOR COELIAC DISEASE
If your doctor suspects you may have Coeliac disease based on your symptoms, and you are eating gluten, a Coeliac blood test will be arranged. If this blood test result is either low or negative and as long as Gluten is being consumed (around 2 slices of bread per day or 2 weet bix for the 6 weeks leading up to the test), Coeliac Disease will be excluded.
A strong positive test will lead to a small bowel biopsy being completed. If the biopsy demonstrates damage to the villi in the small intestine, the diagnosis of Coeliac disease will be made in which case a Gluten Free Diet is the only treatment.
Should the result be normal tissue with no obvious damage to the villi or a poor sample of tissue not demonstrating the extent of the damage, further review and possible further testing will be required.
WHAT ABOUT GENETIC TESTING?
A gene (the HLA DQ2/8) has been associated with Coeliac Disease. In cases where a patient is unable to complete a blood test whilst gluten challenged, a gene test might be completed. 99% of people with Coeliac Disease have the associated gene. Unfortunately the gene is also present in around 40-50% of people who don't have Coeliac disease. This means that a negative test will exclude you from a diagnosis of Coeliac Disease.
1. Coeliac Australia (2015), Diagnosing Coeliac Disease - the key facts., www.coeliac.org.au
2. Tye-Din JA ((2018), Interpreting tests for coeliac disease: Tips, pitfalls and updates, AJGP, Jan-Feb, 47(1-2)