Celiac Disease and Gluten Intolerance

The Tip of the Iceberg

Celiac disease (pronounced ‘seel-ee-ak’ and spelt coeliac in some countries) is an autoimmune condition in which the immune system reacts abnormally to gluten (a protein found in wheat, rye, barley and oats), causing damage to the small bowel.

Genetic research is giving some key insights into the causes and treatment of Celiac disease. What we know from the latest research:

1. If you have Celiac Disease you have Gluten Intolerance Mutations
You cannot develop Celiac disease unless you have genetic mutations in your gluten intolerance genes. These mutations can increase your risk of Celiac disease by 40-400%. Only a genetic test will tell you definitively if you have these mutations and your percentage of risk.

2. Gluten Intolerance Genes + Other Gene Mutations = Risk of Celiac Disease
There are many people who have gluten intolerance mutations who never go on to develop Celiac disease. You have to have other additional gene mutations that contribute to your risk of developing the disease. Only a genetic test will tell you definitively if you have these other mutations, and most importantly, help you understand and mitigate these risks.

3. Genetic Mutations determine Severity of Celiac Disease
If you have been diagnosed with Celiac disease it is not enough to just avoid gluten. Depending on the gluten mutation you have and the total number of mutations you have, you may be at high risk of developing Refractory Celiac Disease in which your Celiac Disease is unresponsive to a gluten free diet, which puts you at risk of severe complications. In these cases it becomes imperative to be 100% gluten free and to be actively managing your other genetic risk factors.

4. There are Degrees of Gluten Intolerance
Gluten intolerance mutations determine if you’re reacting to the full range of gluten peptides or to only certain gluten peptides such as alpha-gliadin. Certain mutations will make you reactive to just a single gluten peptide molecule. Some people have a 300% higher immune response to gluten that is more severe and prolonged. Some people form gluten complexes that are very resistant to break down and lead to a very long immune response.

 5. Traditional Celiac Screening Insufficient
Currently, people trying to screen if they have Celiac Disease will have a tissue transglutaminase 2 (TG2) and/or colonoscopy. If these tests are negative they only confirm that you do not currently have the disease. Negative tests do not mean that you are not gluten intolerant or won’t develop Celiac in the future. If you have gluten intolerant mutations you are what is termed, Latent Celiac. you don’t actively have the disease, but have gluten intolerance mutations that put you at risk of developing the disease at any stage. Your genetic test will tell you before you develop Celiac disease that you are at risk and why.

6. Celiac Disease is not your Only Concern
If you have gluten intolerance mutations you are at risk of a whole range of other autoimmune diseases, not just Celiac disease. The type and number of your gluten intolerance mutations will determine which of these you are at risk of developing. You can develop these diseases without ever developing Celiac disease.

Hashimoto’s Autoimmune Thyroid disease; Grave’s disease; Type 1 diabetes; Type 2 diabetes; Lupus; Autoimmune gastritis; Pernicious anaemia; Autoimmune hepatitis; Selective IgA deficiency; Autoimmune kidney disease (IMN); Autoimmune Addison’s disease; Multiple sclerosis; Vitiligo; Dermatomyositis

If you have Celiac Disease, any of the above autoimmune conditions, or a family history of these diseases, please contact iDNA Health to order your genetic profile and full report. Researchers are recommending that we screen for these mutations in newborns and before the introduction of grains.