Well, Results Of Genetic Testing In...

[Ninja]

I had a nice meeting with my GI doctor a few weeks ago. I agreed to undergo the genetic testing (vitamin d was checked as well). I was hoping to be able to come back here and post about finally receiving validation via positive genetic testing. It all seemed to make sense. Multiple Sclerosis, osteoporosis, short stature, gum disease, vitamin deficiencies and most importantly, GI and stomach issues all run in both sides of my family. On top of that both sides of my family are very new to the U.S. Both come from Europe - Germany, Czech Republic and Sweden. However, I was informed yesterday that the genes (something about three? Nurse wasn't very knowledgable) they did test for, were/are absent. I will get my hands on the results just so that I can see with my own eyes... and I intend to find out which genes I DO have.

I was so hoping for some validation. I'm done fighting with these medical personnel. I'm done questioning my own body on the basis of these tests. I was so sure that it was true celiac. The results I've had... and all the people I've told about my "celiac" - I can't help but feel as though I've lied to them all (along with myself)! I should be happy, but I just wanted some validation, an answer.

I was diagnosed "probable celiac" and the genetic testing was to confirm (I have not spoken to my GI doctor since receiving the results - supposed to go back in the summer). It's so silly that I am upset about this, but I'm tired of searching for answers, and I'm tired of not being taken seriously.

Thank you all,

Laura

[mushroom]

The usual genes they test for are DQ2 and DQ8; there are, however, other genes recognized as celiac genes in Europe. Do you know if any of your relatives have had genetic testing? or even celiac testing?

In the meantime, I would continue to call myself 'celiac' to increase the chance of being taken seriously. No one can prove you are not.

[ravenwoodglass]

There are more genes associated with celiac than just the ones for which they usually check. What tests were done that gave you the probable celiac diagnosis? If you are doing welll on the diet don't let the negative gene panel stop you from sticking with it. Your body's response is at present the best diagnosis we have.

[Celiac Mindwarp]

I got diagnosed non celiac gluten intolerance, cannot rule out celiac. I am waiting for the genetic results, which I know have been dictated and are waiting to be typed and sent. Will I be disappointed if they are negative? Yes. Will it change being gluten-free? No. It explains too much. Plus they don't really understand ncgi yet.

I will continue to call myself celiac until.medical science science catches up and gives me a better explanation.

If anyone really wants to know I will say more, but I feel fine about where I am.

Good luck, go with your gut!

[Ninja]

I was diagnosed probable Celiac because of my amazing results (and gluten symptoms)! All of my symptoms were classic celiac symptoms - my results post gluten-free indicate that I was not absorbing nutrients efficiently (or well) at all. It all just looked so much like celiac to the GI that he was willing to dx based on that. Amongst the conversation I didn't even go into the family history of AI diseases.

I don't know anything about most of my family. Most of my relatives are still living back in Europe...so I don't know whether any of them have been gene tested or tested for celiac.

Celiac Mindwarp - Thanks. May I ask where/how you are doing the genetic testing?

[Madagascar]

what lab did your genetic testing? the Univ of Chicago's celiac center has a great website, including an e-book on the bottom of the home page. In one spot on their site, they recommended Prometheus Labs and the Mayo Clinic Lab. I think it was on the e-book they added a 3rd lab, but i don't remember the name. If you didn't use one of those, i would wonder about its accuracy.

Also, as someone mentioned, in Europe they test for 23 genes. In North America they test for 2 genes.

My results came back from Prometheus and it said i had the "Celiac Risk Genes Detected: DQ2.2 (HLA DQA and DQB) "and other non-risk alleles." But then they said that the DQ2 is a low-risk gene, and the report says "Celiac Disease unlikely. Does not preclude development of the disease." I don't have any doubt that i've got it - way too many symptoms and some of the antibodies. The celiac specialist that i've been seeing says that if you have the gene, you have it, that it doesn't matter where it is located.

i think you'll know better once you've seen the report. you might have gotten something like what i'm mentioning above, where their interpretation is added and the interpretation might be incorrect.

[gatita]

Ninja, I understand your disappointment! But you don't have to feel like you're lying to anyone. Whether you have celiac or NCGI, it's still a serious "disease" that can be very debilitating if not treated by going gluten-free.

Look at it this way: most people (including doctors) still don't have a clue about gluten intolerance. In some situations, like in restaurants, we may have to call it a "wheat allergy" so waiters get that they have to be careful. With others, we may have to call it celiac, so they'll get that it's a lifetime affliction. Other friends and relatives who are more knowledgeable might be able to hear the whole non-celiac gluten intolerance spiel and be able to grasp its gravity.

Bottom line is it's still a serious health matter and you have the right to expect others to take it seriously, too. Whatever it's called.

[Celiac Mindwarp]

Ninja

I'm in the UK so had the test done via the GI on the NHS. Sadly here we just seem to get the same 2 genes tested as in the USA. Maybe I could have an excuse for a trip somewhere nice if my tests are negative. The advice on testing above looks good to me.

I am definitely in the crowd that says judge by response to gluten-free diet. It is worth being aware that many gluten-free replacement foods are as unhealthy as their gluten counterparts, and eating good unprocessed foods can make a world of difference.

Good luck

[Ninja]

Thank you guys! :-) I hadn't thought about the mis-interpretation as a possible issue... this doctor's office has been known to do that (mostly because they don't know much about celiac disease at all). More reason for me to pursue further and pick up the actual results.

ACL laboratory was used? When I dropped the sheet off, the lady had to look up to see whether they actually offered/ran the gene test. I've been doing more reading and found that DQ7 is beginning to be considered a gene that is associated with celiac, but they do not test for it yet because it is not widely accepted? (DQ7 and DQ2,2 make the DQ2.5 I believe, but this study refereed to DQ7's contribution in individuals without DQ2 or DQ8 in the alpha or beta chain). I keep wanting to trust the doctors. :/

[Celiac Mindwarp]

Hiya Ninja

Got my genetic test results today, mine is negative too. I think that s good news?? No way I am going back to eating gluten now. The GI said may be IBS or non celiac gluten intolerance. I am with ncgi, but happy to describe it as celiac if it makes it easier.

So - you are definitely not alone

[Ninja]

CM - Like you said: cannot rule out celiac, because they can't! I've been doing more reading and testing for only 2 genes IS absurd. From what I know about my test results, they only looked for DQ2.5 and DQ8. I think I remember reading that your doctor did something similar? Are you going to ask for a copy of the results?

I also went through my blood work again and found a couple really strange phenomenons. Coincidentally, the changes occurred right around the same time I started having symptoms - they're also characteristic of an autoimmune disease. I can only hope that someday there will be better and more accurate testing, and better and more accurate doctors to go with. For now, celiac makes too much sense, yea?

[Celiac Mindwarp]

I am with you, I just have so many of the symptoms. I did a gluten challenge last year and it was awful, totally wiped me out, took 4 months to get over. I am trying to get my head round the genetic testing. I asked for full results, but didn't get them, think I will request in writing.

So, just hanging out waiting for medical science to catch us up. I am sure if there was money to be made from celiac and ncgi we would both have a diagnosis by now...

I guess we will see a bit of each other hanging out here then

Mw

[Ninja]

I completely agree! If celiac meant taking 1 pill everyday I'm sure we'd have been diagnosed ages ago! Running the tests is easy, but diagnosing without them is the true test, IMO.

I wish it weren't so hard to fight for what we need amongst those who are supposed to fight with us. However, we can ban together and wait and wait and wait for the doctors to tell us that we were right all along (like you've mentioned).

I'm so sorry to hear about the gluten challenge. I guess if you weren't convinced, you are now.

[Ninja]

Update: They tested for the "high-risk" alleles: HLA-DQA1*05, HLA-DQB1*02 and HLA-DQ*03:02 I translate this to mean that they tested for the alpha chain of DQ2.5, the beta chain of DQ2.5 and DQ2.2 and the alpha and beta chain of DQ8. Is this correct?

[Madagascar]

i don't know the answer to your question, but am wondering if you were also checked for antibodies.

the whole thing of testing is very interesting. through an error, my blood sample was sent to Peace Health labs first, then the exact same blood sample was sent to Prometheus. The genetic testing was only through Prometheus. The antibodies were done by both - and the results do not match.

for example, the tTG test through Prometheus was 1.3u/ml, with a reference range of <10.3 U/ml. that would say a pretty clear negative.

the tTG test through Peace Health was 29, with <20 negative, 20-30 weak positive and >30 positive. That's so close to a definite positive, it would say positive.

how to explain it? it was the exact same blood draw sent to both places. I think it just says the testing is not the whole story. i'd go with your gut (little pun) and if you improve on a gluten-free diet, just stick with it.

[Ninja]

Thanks Madagascar! I was checked for antibodies twice. The first time I was gluten-light and the technician had A LOT of trouble getting enough blood. The results were all negative: DGP IGA and IGG were both at 2 (with <19 negative), iTG IGG and IGA were <2 (with <3 negative, 4-9 weak pos. >10 positive), EMA IGA was negative and my serum level was under 145 (with >60 normal). This time around (1 year gluten-free) I had DGP IGA: 5, DGP IGG: 4 (with <19 negative), and tTG IGA: 5, tTG IGG 4 (with <20 negative). Total serum was not run a second time.

The odd thing was... the first time I was tested I was on a nasal steroid twice daily (was on the steroid consistently for 10 years), along with daily anti-inflammatories. I have been able to stop both since gluten-free. Prior to the anti-inflammatories my sed. rate was 19 (<10 normal), after: 0.40 (<1 normal).

I am getting my genes tested again through enterolab because they report which genes you actually do have. We'll see...

[Madagascar]

so curious that your antibodies were lower before you went gluten-free. i don't have any idea how to explain that.

re your nasal spray - i developed angioedema from Becanase, an allergy nasal spray. evil stuff for my body. my hands, feet and tongue would swell up horribly in a "rare" side effect to it. i thought it was going to kill me. apparently i was reacting to a preservative in it. Five years of suffering with that off and on until i finally connected the dots and saw it pointed to the Becanase. Stopped using it and haven't had it since - probably 5 years now without symptoms. Glad you were able to go off of yours.

[Ninja]

I have no idea how to explain it either! I just wonder what the numbers would have been without the steroid (when I was gluten-light). Also, different labs... I had some weird results (for something else tested at the same time) from the lab that ran the celiac test the first time. I was also glutened recently (before the tests)... I don't know if that would affect anything. Maybe I'll ask them to rerun the tests when I go back in the summer...

[GottaSki]

I'm a bit late to this game....

but here is what I think....

I was barely positive at 43 - so sick that I could no longer function. In hindsight == ALL of my health concerns over those four decades can be connected to the malabsorption connected with celiac disease. Had some doctor had the brilliant idea to run celiac antibody tests on me in my 20s or 30s I would have likely been negative and never gotten to the endoscopy stage -- although I was ALWAYS severely anemic.

Dietary response should be a major consideration in diagnosis - yet - sadly - it is often dismissed among our health professionals.

Hang in there - you know what your body is saying far better than any doctor.

[mamamonkey]

I'm following along to see how this turns out. I had my f/u appt with my GI yesterday (1st f/u after the endoscopies). I asked for the genetic testing b/c I would like to know since there is no one else in my family who has been dx (I know, a common theme, it seems) and I would like to know for my son. She is fine with this. Interestingly enough, in the course of our conversation, I mentioned that if I don't have the genes, I don't have celiac, right? And, the GI paused, looked at me, and said, nope, she still would say I have celiac based off of my biopsy results (showed mild inflammation with a week of once a day gluten after being gluten free for 6 months) and my response to the gluten free diet. So, I guess now I wait and see. All of my serologies were negative b/c I was already gluten free when they drew them (long story).

[Ninja]

Gottaski: I actually went back to look through my blood work from age 10 up. My WBC dropped (relatively slowly) around age 14/15 and stayed low from then on, sed. rate went up, and celiac symptoms started. I went gluten free when I was 17/18. I believe I had active celiac for 2ish years before testing was done. The kicker was that he was ready to diagnose me with celiac after he measured me and I had grown 2+ inches (as an adult) since the last time I saw him. Thank you! I don't know what I would do without this place...

mamamonkey: Wow! Sounds like you have an awesome doctor! It seems that rarely do the doctors test for all of the associated genes. For instance, the genetic testing done on me was very specific for only 3 alleles. Let me know the results of your gene testing/how you're doing!

[frieze]

I have no idea how to explain it either! I just wonder what the numbers would have been without the steroid (when I was gluten-light). Also, different labs... I had some weird results (for something else tested at the same time) from the lab that ran the celiac test the first time. I was also glutened recently (before the tests)... I don't know if that would affect anything. Maybe I'll ask them to rerun the tests when I go back in the summer...

steroids suppress your immune system! therefore that testing was inaccurate...

[Ninja]

I guess I will play the waiting game again with the gene test results from enterolab...

Thank you everyone for your ideas and support!

[Ninja]

Just got my enterolab genetic tests back. I am double HLA-DQB1*0602. Hmm..

[Takala]

Uh.... you're supposed to be more vulnerable to narcolepsy and multiple sclerosis ?    

 

Look at how this HLA DQB1 602 gene is distributed worldwide now, lots of Spanish, Siberians, Irish, Swedes, Danes, and ... Africans. It originates in Central Asia ?  Open Original Shared Link   This is one of the reasons I haven't had mine done, I suspect with my heritage I'm going to get something odd.