Is Celiac Disease Genetic?


Dr. Cynthia Rudert, Celiac Disease and Gluten Intolerance expert answers your questions on celiac (*see her advice to the writers of the popular TV show "House" below):

Is Celiac Disease genetic?

Dr. Rudert answers:

Yes, celiac disease is genetic. However, I only recommend genetic testing for celiac in selected patients. The genes for celiac are HLA DQ2 and HLA DQ8. Over 99% of celiacs have one or both genes.

If I have celiac should my children be tested for celiac?

Dr. Rudert answers:

Yes. It is recommended that all first degree relatives be tested with celiac serology. *A pearl to remember is no one is ever born with celiac, as I explained to the writers from the popular TV show "House" when they were writing their celiac segment. (Dr. Rudert acted as the celiac consultant for an episode about celiac for the TV show "House".)

Can genetic testing diagnose celiac disease?

Dr. Rudert answers:

No, genetic testing cannot diagnose celiac disease. I do however see this mistake made often by healthcare providers. Genetic testing can only rule out the diagnosis. I tell patients it is a test with a high negative predictive value, in other words, no gene = no celiac.

If the genetic test for celiac is positive, does that mean I have celiac?

Dr. Rudert answers:

No. Celiac disease is present in approximately 1% of the population but 40% of the population has one or both of the celiac genes. Therefore, one needs a trigger in order to develop celiac in a genetically predisposed individual. (Learn what the possible triggers for celiac might be in my next blog!)

As a diagnosed celiac how likely is it for my children to have celiac?

Dr. Rudert answers:

It is estimated to be 1 in 29 versus a prevalence of 1 in 133 in the general population.

If a parent has celiac at what age should the children be tested?

Dr. Rudert answers:

Celiac disease may be triggered at any age and occurs in some genetically predisposed individuals, eating a diet that includes gluten. Remember....just because you have one negative serologic test does not mean you would never get celiac. Some testing (anti - endomysial antibody) may be falsely negative under the age of 3

Dr. Cynthia Rudert is a celiac disease and gluten intolerance specialist, consultant and speaker based in Atlanta, Georgia. www.drcynthiarudert.com

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