Genetic Testing Inconclusive?

[luluo]

I have been gluten-free since 2004. Been doing well but have had health problems recently that have led to me want to have a firm diagnosis if celiac disease if possible. Blood tests were negative, but I am gluten-free so I expected that. So I paid big bucks to have a HLA DQ test done. GI Doc said that this should give us a definitive answer. I spoke with the nurse practitioner today and she told me that the results were inconclusive because I tested positive for one gene but not the other and in order to be considered celiac disease I have to have both genes be positive but to be considered negative I need both to be negative. I am really disappointed that this so-called "definitive test" is not definitive at all. Has anyone else had this happen? Any insight?

GI now wants to do an upper endoscopy. I believe I'd have to get back on gluten for this test, correct? The Nurse Practitioner said that I wouldn't but I dont see how that would work. Also, aren't there lots of false negatives with the upper endoscopy. Not sure it is worth going through all that.

[domesticactivist]

Even if you had both genes the DNA test would be inconclusive. You can have the genes but not develop the disease. However, having one gene means it is *possible* that you have celiac. (Some people still have problems without the genes, too, btw, but that's another story.)

With the endoscopy, you do need to be eating gluten. One or two days (or weeks) of eating gluten is not enough to be confident in the results. I've heard varying amounts of time and quantities required - it's not an exact science. Your dr also needs to take many biopsies from different areas of the small intestine. Even then, sometimes people test negative despite damage because the biopsies taken did not come from the visibly damaged part of the intestine.

If you have problems when eating gluten that are resolved when you aren't eating gluten, that seems like a good enough reason not to eat it to me.

What are the reasons that you need an official diagnosis?

[GlutenFreeManna]

I have been gluten-free since 2004. Been doing well but have had health problems recently that have led to me want to have a firm diagnosis if celiac disease if possible. Blood tests were negative, but I am gluten-free so I expected that. So I paid big bucks to have a HLA DQ test done. GI Doc said that this should give us a definitive answer. I spoke with the nurse practitioner today and she told me that the results were inconclusive because I tested positive for one gene but not the other and in order to be considered celiac disease I have to have both genes be positive but to be considered negative I need both to be negative. I am really disappointed that this so-called "definitive test" is not definitive at all. Has anyone else had this happen? Any insight?

GI now wants to do an upper endoscopy. I believe I'd have to get back on gluten for this test, correct? The Nurse Practitioner said that I wouldn't but I dont see how that would work. Also, aren't there lots of false negatives with the upper endoscopy. Not sure it is worth going through all that.

Your NP and GI know NOTHING! Oh my, I can't beleive they said the genetic test would be "definitive". First of all havign the most common genes does not diagnose celiac. 30% of the population have the most common genes but only 1% of the population develops active celiac disease. Further complicating this whole thing, what they told you about only having one is completely wrong as well. There are people that are diagnosed via blood test and biopsy that don't have EITHER of the most common genes. So they are completely all wet that you have to have both!

You are right in that you would have to go back to eating gluten to do the endscopy. You need to be back on it for at least 3 months and be eatign the equivalent of 3-4 slices of bread a day. If you have really bad symptoms from eating gluten however is that really worth it? If you do want to doa gluten challenge and retest I strongly suggest to find a new doctor. The one you currently have seems to just want to make money off of you or is just completely ignorant about the tests, which means he may dso the biopsy wrong!

[luluo]

Thank you both for the explanations. I've gotten better info from you than from the GI and staff. I'm very irritated that he made it seem that this genetic test would give me the answers I was looking for. Should have known better. The reason I was looking for a firm dx of celiac was to aid my rheumatologist in my treatment. I have a positive ana and we were hoping to rule in celiac as a cause of that or rule it out. Not that it makes much difference except that if you are labeled with one condition, the docs tend to use that as an explanation for everything and rule out other causes.

Thanks so much for the quick responses. I think I'm going to skip the upper endoscopy. I don't want to load myself up on gluten again. Not worth it to me. I'll just stay gluten-free and hopefully that will be good enough for my rheumatologist.

[GlutenFreeManna]

Thank you both for the explanations. I've gotten better info from you than from the GI and staff. I'm very irritated that he made it seem that this genetic test would give me the answers I was looking for. Should have known better. The reason I was looking for a firm dx of celiac was to aid my rheumatologist in my treatment. I have a positive ana and we were hoping to rule in celiac as a cause of that or rule it out. Not that it makes much difference except that if you are labeled with one condition, the docs tend to use that as an explanation for everything and rule out other causes.

Thanks so much for the quick responses. I think I'm going to skip the upper endoscopy. I don't want to load myself up on gluten again. Not worth it to me. I'll just stay gluten-free and hopefully that will be good enough for my rheumatologist.

Are they looking for RA or Lupus or somehtign else specific with the ANA test? This thread might be helpful to you:

A lot of us seem to have positive ANA's but it may or may not have anything to do with celiac. What are your symptoms that lead them to do the ANA test?

[GlutenFreeManna]

Also wanted to add that if you have celiac diseaes that would NOT rule out your having other autoimmune diseases which could cause the positive ANA. The opposite is actually true. If you have celiac you are MORE LIKELY to have another autoimmune disease as well such as lupus, hashimotos, RA, etc. So whether you have celiac or not doesn't really matter if you are having new symptoms. Your doctors should be looking for additional causes if you are sure your new symptoms are not related to gluten cc.

[luluo]

Are they looking for RA or Lupus or somehtign else specific with the ANA test? This thread might be helpful to you:

A lot of us seem to have positive ANA's but it may or may not have anything to do with celiac. What are your symptoms that lead them to do the ANA test?

Extreme fatigue, all over chronic pain since I was in my teens, migrianes, numbness in the extremeties, breathlessness, palpitations, extreme feelings of hot and cold, etc., that have all gotten much worse in the last few years to the point where my life was being greatly impacted. Yes, my rheumatologist was thinking Lupus or RA as well as a few other things but all tests came back okay.

One thing that was certain was that we discovered I had a congenital heart defect (undetected for 34 years). It was fixed 2.5 ago and we are all hopeful that some or many of my symptoms will resolve as I heal. Since discovery of the heart defect, my rheumy was thinking fibro (or fibro like symptoms) brought on by the stress my body was under due to the heart defect. (I had a 1cm hole between the right and left atrium and one of the pulmonary veins was going to the right chamber instead of the left.) My rheumy she says she won't rule anything out and we will just take things one day at a time.

In the meantime, I had had this genetic test for celiac done back in April and just got the results back and was surprised by the results. Though after reading the posts here, my results weren't all that surprising.

What led me to go gluten-free in 2004 was I was having lots of GI problems, lost a lot of weight in a short amount of time and after tests, colonoscopy, and a dairy elimination, I did a gluten elimination and got better very quickly. I've been gluten-free ever since. Really, I have had so much going on medically, over the last couple of years especially, that I'm just trying to piece the puzzle together to improve my quality of life.

Thanks so much for responding. I appreciate the help.

[GlutenFreeManna]

Extreme fatigue, all over chronic pain since I was in my teens, migrianes, numbness in the extremeties, breathlessness, palpitations, extreme feelings of hot and cold, etc., that have all gotten much worse in the last few years to the point where my life was being greatly impacted. Yes, my rheumatologist was thinking Lupus or RA as well as a few other things but all tests came back okay.

One thing that was certain was that we discovered I had a congenital heart defect (undetected for 34 years). It was fixed 2.5 ago and we are all hopeful that some or many of my symptoms will resolve as I heal. Since discovery of the heart defect, my rheumy was thinking fibro (or fibro like symptoms) brought on by the stress my body was under due to the heart defect. (I had a 1cm hole between the right and left atrium and one of the pulmonary veins was going to the right chamber instead of the left.) My rheumy she says she won't rule anything out and we will just take things one day at a time.

In the meantime, I had had this genetic test for celiac done back in April and just got the results back and was surprised by the results. Though after reading the posts here, my results weren't all that surprising.

What led me to go gluten-free in 2004 was I was having lots of GI problems, lost a lot of weight in a short amount of time and after tests, colonoscopy, and a dairy elimination, I did a gluten elimination and got better very quickly. I've been gluten-free ever since. Really, I have had so much going on medically, over the last couple of years especially, that I'm just trying to piece the puzzle together to improve my quality of life.

Thanks so much for responding. I appreciate the help.

Two suggestions:

Have your thyroid tested and also consider that you may have additional food intolerances. Your symptoms are very similar to what I had prior to going gluten-free soy free and dairy free. Anytime I get a little bit of soy I get extremely tired and have muscle aches and pain. Soybean oil can give me an instant migraine. I also had breathing difficulties all my life and racing heartbeat which turned out to be a milk allergy (not just and intolerance). I didn't figure out it was a milk allergy until my symptoms got so severe that now I have to carry an epi-pen. The one symptom that you mentioned that I still get is the hot and cold thing. I think it may be due to my thyroid (which is underactive but not enough to be diagnosed as hypothyroid yet). I made a post a while ago however asking if others have extreme temperature changes (like hot flashes and chills) and also sensitivity to temperatures (I cannot tolerate very hot whether). Many others said they had those symptoms as well. So they very well could be somethign to do with celiac messing up our temperature regulation. I also often wonder about whether I could be going through early menopause due to the years of undiagnosed celiac damage. Celiac is connected to infertility in women that do not get diagnosed or don't stick to a gluten-free diet. But I don't know if there has been any research yet on how it effects our hormone production.

ETA: Another thing that you should have checked is your vitamin levels-- Vitamin D, Vitamin B12, Potassium, Iron, Calcium, etc. Low iron or low vit D can make you feel run down and give you the achy symptoms as well.

[Marilyn R]

Hi Luluo, and welcome to the forum!

I appreciate your post, because my neurologist wants me to have genetic testing even though I had negative blood tests and an upper endoscopy that came back negative. My neurologist wants me to have genetic testing. She already made me endure an EMG and also wants a nerve culture. After researching nerve culture, I declined. Now she wants genetic testing.

I told her that I don't have any children and couldn't see why it would be beneficial to have the genetic testing. She told me that it would help in diagnosing me. I've strongly encouraged all first degree relatives to get the celiac panel and genetic testing for their kids. So you answered a question for me...thank you.

I've had high ANA results strictly gluten free.

I'm not sure if this is the answer for you, but it was for me. Could there be another food intolerance? Sounds like you've been through the drill with the elimination diet, so you know what that means.

For me, soy, dairy, corn and legumes are out of my diet for now. If something else happens, I'll suspect nightshade vegetables. Those food families are fairly commonly problematic in this population from what I've read.

I went to an allergist and he pointed out a few other ones from skin prick testing. Not everyone believes in skin prick testing though.

Good luck, wish you well.

[nora-n]

If the doctor or the nurse said that you need both genes postive, this is utter nonsense!

THere is even one constellation where only one gene is possible, that is having the HLA DQ2,5 gene in trans! (made up of 05* in the alpha chain on one gene and the 02* in the beta chain on the other gene, like with DQ7,5 and DQ2,2)