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Jrod

Blood work showing positive for celiac but Genetic test says negative

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Hi,

Back in 2009 I was very sick and after seeing multiple doctors, one of them finally showed me the light. 
I no longer have the test but I remember that anit-body levels were high and it was suggested that I have celiac disease.
I was told to get an endoscopy but back then it cost $400 and as an 18, I did not have the money (I'm in Australia btw).

I went on gluten-free diet and within a few weeks started to feel better, my entire world changed! 
I did a follow up blood test and my levels had dropped but not completely. 
I later did a gluten challenge which was hard, but the test shows only inflammation in my stomach and no damage to the villi.

So for the last 7 years I have assumed I have celiac disease and have stuck to the diet really well.
However, I recently went and got the genetic test and the results showed that I do not carry the genes to develop celiac disease.

So what now? What am I meant to do? Does anyone have advice for me, I would prefer to be able to eat gluten.
If I cant develop celiac disease then why were my anti-bodies so high?

Thanks,

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There could be another reason for having high antibodies. You could also have a sensitivity to gluten which often has the same symptoms of celiac disease, just not the intestinal damage. 

What does your doctor say about all this?

I already know I am sensitive to gluten after eliminating gluten for about 3 weeks and feeling better, but I am currently doing a 4 week gluten challenge for celiac testing. Whether or not I have celiac disease, I will eat gluten free once all testing is done.

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There are something like 1-3% of celiacs who do not carry the "typical" genes so a gene test is not the all fired gospel. Yes, it's extremely rare for one not to have the typical genes associated with celiac disease but that does not mean it's impossible to have celiac without those genes.


Gluten free Dec. 2011
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These links have interesting discussions on celiac genes

https://ghr.nlm.nih.gov/condition/celiac-disease

https://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns

Here's a really cool illustration:  https://ghr.nlm.nih.gov/handbook/illustrations/patterns?show=autorecessive

It is my understanding if you have no genes for celiac you will not get the disease. 

 

 

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There is so much information missing that it is hard to speculate.  We do not know:

1.  Which celiac antibody tests were given, the results and lab ranges?

2.  How many biopsies were taken?  

3.  How long was the gluten challenge? 

4.  How long had you been gluten free before seeing your antibodies come down? (It can take a year or longer for them to hit the normal range)?

5.  Why the interest after seven years to go back on gluten knowing that your last challenge made you sick (or did it)? 

6.  What were your symptoms?  Anything off on regular blood work (e.g. Anemia, elevated liver enzymes?)

7.  Have you considered a wheat allergy?

8. Other autoimmune diseases ruled out?  (This can cause a false positive on the antibodies test which is why it is one of the reasons to get a full celiac panel)

9. Which lab performed the genetic test and does your doctor think they are reputable?  (There are cheaper versions to run but are not as accurate.)

You could be in the tiny percentage of those without the common celiac genes,  but that would be very rare. You could just be intolerant.  Only way to tell is to go back on gluten.  Lucky you if you have not been accidentally glutened in seven years.  I say this because my hubby went gluten-free 14 years ago per the poor advice of his doctor and my allergist.  He wishes for a definitive diagnosis (like me), but there is no way he will do a challenge.  He knows gluten makes him sick.  

I hope you figure it out.  

Edited by cyclinglady

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Do you have any more information on the genetic test you took? One from your doctor would probably be fairly accurate. But if you did a home test like 23andme.com or Enterolab, they tend to not give very good information for genes aside from the very most common. E.g., I know from experience that Enterolab says HLA DQ 2.2 does not predispose to Celiac disease, but several studies have shown it is just as prevalent as DQ8. And 23andme I think used to only report on DQ2.5. There are at least 4 haplotypes that are sufficient for Celiac disease, with different levels of risk. DQ2.5, DQ8, DQ2.2, and DQ7.5. I've heard DQ9 is another possibility. And it's possible but rare to have celiac disease without any of those.

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You had symptoms and blood tests showed high antibodies. You went gluten free and saw a resolution of symptoms and your antibodies went down.  You then did a gluten challenge which you say was hard. I take that to mean your body reacted.  You have your answer. What you need to do is to remain gluten free. As some folks have already stated it is possible to have celiac and not have one of the two most common genes. I know that from personal experience as I am one of the oddballs. I have  a double DQ9 and was firmly diagnosed celiac. We are learning more everyday about the genes that are associated with celiac and that there seem to be quite a few more than those two most common ones.

 


Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying

"I will try again tommorrow" (Mary Anne Radmacher)

Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002

Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis

All bold resoved or went into remission in time with proper diagnosis of Celiac November 2002

 Gene Test Aug 2007

HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

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Genetic testing is not as accurate as whatever percentage you were told.

My daughter tested positive for both DQ2 and DQ8.  My genetic test taken through a different doctor's office was negative.  As the lab tech seemed so flustered about the blood draw and the inconvenience to day.  I had contacted Prometheus labs to question the results.. Like did my daughter's results and my results even show that we are biological mother and daughter?  Never got an answer to that, because I requested the test be done over.  I was promptly told that I must have been in the 2 percent of none miss results, genes mutate, and that EVERY blood test has at least 30 percent human error rate.  Not all Celiac genes are identified.  (if I had an official gold standard diagnoses they would have put my daughter and I into a further study to look for unidentified gene or gene mutation.

Like the other poster pointed out.  You lab test showed positive antibodies and the gluten free diet had an improvement to your health.  I would listen to your body as the true diagnostic tool.


Michigan

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