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Genetic Testing

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Posted 16 March 2005 - 08:05 PM

Hi everyone,
My mother had the blood tests done for celiac and got her results today (I'm a confirmed celiac). Her blood work was all negative but she is positive for the DQ2 celiac gene. She has alot of the symptoms of celiac disease too. Her question is what does she do next? Should she proceed with a biopsy to definitely rule out any active disease? or just let it be? or I also suggested that she could go gluten-free for one month and see if her symptoms improve or disappear. Any comments or suggestions appreciated!!! Has this happened to anyone??
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Posted 18 March 2005 - 06:01 PM

It is suggested to get complete blood tests for IgG and IgA serum markers and have an endoscopy biopsy BEFORE you go on a gluten free diet. It does take a while for the antibodies to dissapear from your system, but if she wants to pursue getting a diagnosis she should continue eating gluten. She should also get a specialist in gastroenterology- I am trying to find one myself, it can be kind of tricky. Especially older doctors who do not know much about the disease, they can be very quick to write it off as IBS or anxiety. good luck
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Posted 18 March 2005 - 06:27 PM

Actually they can diagnose you through only blood tests. I didn't have an initial biopsy to diagnose me the blood tests and symptoms were enough for him. If her blood tests came back negative and she has a lot of symptoms then she may want to consider a biopsy or an enterolab. I would have her find a good GI doctor who knows alot about celiac disease. Since her gene came back positive that is likely where you got it from. She has the predisposition but not everyone with that actually gets celiac. If she does not want to test she could try a gluten-free diet to see if she feels better thats the real test. Hope you guys get some answers soon I know how frustrating it can be.
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Posted 19 March 2005 - 09:37 AM

Through Enterolab, I was gene tested and found to be positive and also to have an intolerance to gluten and casein. I had been having symptoms and so went gluten-free and cf and really feel so much better. My granddaughter has had celiac disease since she was one, she is six now. It is my understanding that if you carry the gene, then it is possible that you could get celiac disease and to me it just isn't worth the risk, especially with all the symptoms I was having and the fact that they all went away when I went gluten-free/cf. I now can use cheese, sour cream and ice cream with few problems again, but don't use cow's milk, only rice milk. I was advised that would happen after many months of being gluten-free. Rather than enduring the expense and trauma of the endoscopy, I would suggest either just going gluten-free or contacting Enterolab and taking their full panel test which you can do after going gluten-free.

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Posted 19 March 2005 - 09:56 AM

Thanks everyone for the comments and suggestions. My mother is still trying to decide what to do. Her 2 choices are 1. get an endoscopy or 2. try the gluten-free diet and see if her symptoms disappear. She is also waiting for me to ask my GI specialist about her results and symptoms and see what he would advise. Her concern with the biopsy is that sometimes that can come back inconclusive too. We'll see what she decides. She knows (from me) that she cannot go gluten-free until after all testing is complete. I am assuming that I got the celiac gene from her (we thought that is was probably from my father). I also passed it on to my 2 kids too. They were both recently tested with the blood work and it was negative but they both have the DQ2 gene. My son is going on the gluten-free diet because he has symptoms, but my daughter doesn't show any symptoms yet. At least I know what to watch for in the future (with my daughter).
Thanks again everyone!
Have a great day!
Kris in TN
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