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Sooz Fooz

Biopsy Negative Gene Test Positive

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Well I finally got some answers. Over the last 5 years I have had 2 biopsy's which both came back negative. My specialist decided to do the gene test and yes it came back positive to celiac. Can someone tell me why this test wasn't performed before going to have the biopsy's. I also get dermatitis herpeformes which I have figured out  is my warning signal. How many others have unnecessary procedures? when a simple blood test can tell us the answer and if positive then have the biopsy to see if any damage has been done.   

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I think that DH is proof of celiac.  You would have to have a dermatologist check test it to be sure it is DH.   I can't tell you why that you didn't get a genetic test first, but I suspect that it is because it is the newer kind of test.  In addition to having positive genes something must trigger the manifestation of symptoms.  This would be a major illness, surgery, or perhaps a pregnancy.  Symptoms make it easier to diagnose.  When I saw my MD, after my absolutely positive genetic test, my tummy looked 5 months pregnant.

 

I never had a biopsy.  The other day I had an exam.  The nurse pressed on my colon and it was tender!  What a  quick, easy, and non invasive test. I am not sure if the test would work for all.   We can tell my body has trouble with nutrient absorption from my blood tests.  Too bad, I was still hoping someone would come along and discredit my genetic test, but it is right!

 

I hope you will enjoy your walk toward recovery..

 

Diana

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A gene test does not diagnose Celiac.  It appears about 30% of the population have one of the genes that the US tests for (in Europe they test for another gene, too).  Just having a gene does not mean you have Celiac.  It has to "activate".

 

 

 

http://www.cureceliacdisease.org/archives/faq/do-most-people-with-celiac-disease-have-the-gene-turned-on-at-birth

 

Do most people with celiac disease have the gene turned on at birth?

For celiac disease to develop, you don’t just need the gene(s), but also the contribution of several environmental factors (the first one being gluten, of course), hence the fact that celiac disease can appear at any time and at any age for those who have the gene(s).

 

 

 

http://www.cureceliacdisease.org/archives/faq/if-i-have-a-gene-for-celiac-disease-does-that-i-mean-i-have-it

If I have a gene for celiac disease, does that I mean I have it?

Genetics don’t diagnose celiac disease. They do, however, clarify whether an individual is “at-risk” for it. If this is the case, you should closely monitor your symptoms and submit to blood tests every 2-3 years or immediately upon the sight of symptoms. When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to 1/3 of the U.S. population has the genes for celiac disease. Meaning, those who have the DQ2 or DQ8 gene can develop celiac disease at any time, but only about 5% of those people actually will.

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Ditto what KarenG said, a gene test just menas you could get celiac disease, and not that you have it.  The blood tests can tell you if you have celiac disease or not. Those are:

 

TTG IgA and TTG IgG

total serum IgA

EMA IgA

DGP IgA and DGP IgG

AGA IgG and AGA IgA (older tests)

 

I have read (can not remember where) that sufferers of dh will often not have intestinal damage as it is attacking their skin.  I think that's why a skin biopsy is done instead of the endoscopic one... I'm not sure of this though...

 

And welcome to the board.  :)

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If you have been diagnosed with DH, you have Celiac. Maybe show your doctors some info from other doctors ( more info at that link)

http://www.cureceliacdisease.org/?s=Dermatitis&submit=Search

"What is dermatitis herpetiformis (DH)?

Dermatitis herpetiformis (DH) is an itchy, blistering skin condition that’s a form of celiac disease. The rash usually occurs on the elbows, knees and/or buttocks, and is characterized by its bilateral nature; both knees (and/or both arms) are affected, seldom just one. Many people with DH have no digestive symptoms and only about 40% of them have the positive blood tests (serology) for celiac disease. However, they almost always have the same, gluten-dependent intestinal damage as those with the more common symptoms of celiac disease.

Unless otherwise specified, the information pertaining to celiac disease also pertains to people with DH. In addition to following a strict gluten free diet, DH is also commonly treated with a medication called Dapsone."

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