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Negative Genetics Postive Biopsy

Salty

By Salty
in Doctors

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Salty Newbie
Salty
Posted

I was diagnosed with Celiac disease 8 months ago after having a positive biopsy. After my father's, who has stomach trouble like mine, biopsy came back negative I asked my doctor to do a genetic test. The genetic test came back negative.

I have been told that Celiac is a genetic disease and that you can not have it if you do not carry the gene. However I have responded well to the gluten free diet. My first reaction to this news was that maybe I have a gluten intolerance or allergy, not Celiac. But my duodenal biopsy showed damage to the villi, which would not be the case with an allergy or intolerance.

Can anyone explain this?

Thank you!

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Salty Newbie
Salty
Posted
  • Author

I was diagnosed with Celiac disease 8 months ago after having a positive biopsy. After my father's, who has stomach trouble like mine, biopsy came back negative I asked my doctor to do a genetic test. The genetic test came back negative.

I have been told that Celiac is a genetic disease and that you can not have it if you do not carry the gene. However I have responded well to the gluten free diet. My first reaction to this news was that maybe I have a gluten intolerance or allergy, not Celiac. But my duodenal biopsy showed damage to the villi, which would not be the case with an allergy or intolerance.

Can anyone explain this?

Thank you!

2kids4me Contributor
2kids4me
Posted

Yes.

It is called spontaneous mutation. Genetics is one component in how disease comes about. Celiac is passed on genetically but can occur without.

Usually due to errors in the normal functioning of cellular enzymes.

This also happens in Type 1 diabetes.

Environmental triggers, medications, radiation exposure, diet can all impact our health and development of autoimmune disorders.

Sandy

fedora Enthusiast
fedora
Posted

Do you have the results? Did they tell you what genes you do have.

You can have celiac with genes other than the main two. These genes were found in 6% of celiacs in one study. DQ2.2(4%) and DQ7(2%) and DQ5(.5%).

happygirl Collaborator
happygirl
Posted

Duplicate thread: I merged responses together.

Yes, you can still have Celiac. While most Celiacs have DQ2 or DQ8, there are Celiacs (2-5%) that don't have these genes.

There is increasing research on what other genes are linked to Celiac as well.

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