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Ask the Doc: Can I have celiac disease if I don’t have the celiac genes?

Posted on January 2nd, 2010 by Alison Read 2 Comments - Add Your Own »

questionmarkgreen1.jpg Q. I just had a blood test to test for genetic predisposition to celiac because my mother is a celiac and I have a lot of the same symptoms. It came back negative and I am just wondering if it is possible to still have it. My doctor has completely ruled it out based on the test. Have you any idea what percentage of celiacs have no genetic markers?

A. The genetic tests for HLA DQ2 and HLA DQ8 account for 95% of celiacs. Celiac disease itself by the classical definition (positive anti tTG and EMA antibodies and a Marsh III biopsy) only accounts for half of all patients who are sensitive to gluten. There are a number of genes that are not currently tested for in clinical practice that have been associated with gluten sensitivity.  We currently are ignorant of their precise actions. You probably would benefit from a gluten-free diet.

Health and happiness,
Dr. Aron

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  1. I so appreciate this type of post on your site Allison. Celiac and gluten intolerance are not cut and dried. We do not have all the answers. We probaly don’t even have all the right questions. I am sure genetic testing (as least as it is done now) helps with treatment choices.

    Testing for celiac is useful before starting a gluten free diet. But if it is negative, that does not rule out trying the diet to see if a person benefits.

  2. I also had all the test for Celiac and it came back negative, but my blood work shows I have no tolerance to wheat, corn (maize) peanuts, sesame seed, milk and tomatoes. So I am a non gluten person now!! I have had to learn how to get creative in the kitchen and how to shop very carefully and differently, it is doable, but a little challenging. I really feel better than I have in while, it’s worth the work.