Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Thoroughly Confused

jbuckeye

Recommended Posts

jbuckeye Newbie
jbuckeye
Posted

I'm hoping someone can help me. Two years ago, with a tTg of 76, an endoscopy (which the gastroenterologist said looked like a "classic textbook case of celiac disease"), and a positive biopsy, I was diagnosed with celiac disease. I went on a gluten free diet; symptoms disappeared; life was good. Fast forward to today. My mom wanted to know if she had celiac disease, so she submitted a cheek sample to Kimball Labs. The results came back DQ2 positive. So she asks me if I will take the test because she wants to know if I'm DQ2 or DQ8. I send off my cheek sample, and it came back today negative for DQ2 and 8 with big writing that says, "It is highly unlikely that this patient has celiac disease."

So--could the gastroenterologist have been wrong? Is there some other condition that would explain a high tTg and positive biopsy? Help. Very confused.

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


Lisa Mentor
Lisa
Posted
I'm hoping someone can help me. Two years ago, with a tTg of 76, an endoscopy (which the gastroenterologist said looked like a "classic textbook case of celiac disease"), and a positive biopsy, I was diagnosed with celiac disease. I went on a gluten free diet; symptoms disappeared; life was good. Fast forward to today. My mom wanted to know if she had celiac disease, so she submitted a cheek sample to Kimball Labs. The results came back DQ2 positive. So she asks me if I will take the test because she wants to know if I'm DQ2 or DQ8. I send off my cheek sample, and it came back today negative for DQ2 and 8 with big writing that says, "It is highly unlikely that this patient has celiac disease."

So--could the gastroenterologist have been wrong? Is there some other condition that would explain a high tTg and positive biopsy? Help. Very confused.

A positive biopsy is a little hard to deny. But...I don't know too much about the gene testing and will leave that to others.

bareden Newbie
bareden
Posted

I just read an article the other day that many males who have celiac do not have a positive DQ 2 and 8. I don't know if you are male or not but I will try to find a link to the article if you are interested.

jbuckeye Newbie
jbuckeye
Posted
  • Author

Thanks--am female, though.

tarnalberry Community Regular
tarnalberry
Posted

the two common genes do not cover all cases of celiac. not having dq2 or dq8 may make it less likely that you would have celiac, but doesn't in any way whatsoever make it impossible.

kdaley Newbie
kdaley
Posted

I am negative for DQ2 and DQ8, and female. I have 1/2 of the DQ2 gene, and have Celiacs, "Mine was highly unlikely, but still possible (like less than 1% chance, but still a chance - I seem to always fall into that category :))." Science still knows very little about all the factors that result in Celiacs. One member here told me that countries other than the United States include more genes in the diagnosis - I don't know what those are (anyone?).

Anyway, I have my life back since my diagnosis. If being Gluten Free did not solve a life time of pain for me, than I would be searching for a different diagnosis. I am happy where I am at!

Good Luck,

Kelly

aikiducky Apprentice
aikiducky
Posted

What Tarnalberry said - all the genes for celiac aren't well researched yet, the two most common ones don't cover 100% of the celiacs. You probably just have a version of genes that the lab doesn't test for. I wouldn't argue with a positive biopsy and TTG and positive diet response though, you pretty much can't have more positive proof than that.

Pauliina

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


nora-n Rookie
nora-n
Posted

Mistyping does happen, especially if they use serotyping.

The wikipedia article explains more about that.

Open Original Shared Link

and they found thar some have half the gene and that is mised if they do not do an elecrtopheresis and test both alpha and beta chains.

Open Original Shared Link here they found some mistyped celiacs and some half genes and some DQ1 subtype 5 (why onearth do they just write DQA1*01-DQB*05 and not tell us that this is DQ1 subtype 5? is it so they do not have to give Dr. Hadjivassiliou right in that he found 20% of the gluten ataxia subjects in his research being DQ1??

And they found DQ7 and DQ9 celiacs:

Open Original Shared Link DQ7

Open Original Shared Link DQ9

And, they have found that the DQ genes only predispose only with a half. Now they found another location that predisposes for celiac. Your mom probably has this, and you too.

nora

jbuckeye Newbie
jbuckeye
Posted
  • Author

Thanks, everyone!

fedora Enthusiast
fedora
Posted

Did they tell you what genes you do have?

jbuckeye Newbie
jbuckeye
Posted
  • Author
Did they tell you what genes you do have?

No--they only looked for DQ2 and 8. I wonder if another lab would look for more. Is Enterolab a good lab to use?

nora-n Rookie
nora-n
Posted

Enterolab will tell you all the beta chains but not the alpha chains. Kimball I think will only tst for DQ2 or 8 but will check for alpha chains I think. Those not positive for DQ2 or 8 need the enterolab test to find out if they areDQ5,6, 7 or 9 or 4, I think.

I have not seen anyone posting with results form Kimball that they have half a DQ2 gene, though. But they do test for it, it sounds like.

Open Original Shared Link

nora

  • 2 weeks later...
jbuckeye Newbie
jbuckeye
Posted
  • Author

UPDATE:

Kimball reran my lab test and sent the sample out to a larger lab. (They were very helpful.)

Results: positive for DQ8.

Figures I'd have the rarer one....

nora-n Rookie
nora-n
Posted
UPDATE:

Kimball reran my lab test and sent the sample out to a larger lab. (They were very helpful.)

Results: positive for DQ8.

Figures I'd have the rarer one....

Very intersting that they first told you that you were negative, and then re-ran the test and even sent it out to another lab.

D wonder how many others have just given up after they were told the test was negative.

I have re-read the wiki page on DQ and they give several reasons as to why people are mistyped.

Did they give you an explanation to why your first test was negative, and the second test was positive?

I suspect one lab used serotyping and the other used a different method.

On the wiki page they mention that the serotyping tests for DQ8 are not so sensitive I think.

Open Original Shared Link

Did the doctor question the gene test result and refer to the positive Ttg result and ask them to re-do the test? Or did you manage to get them to re-do the test?

Added: this may explain why the tests for DQ8 can be a bit difficult, as I can see 5 different Dq8 here:

Open Original Shared Link

and the other wiki page on DQ gives some reasons for mistyping.

nora

darlindeb25 Collaborator
darlindeb25
Posted

This is what I found in another forum, I think back in March--I truly believe this to be true. Scientist just do not know yet what genes truly do cause celiac, they only know a few, not all:

Open Original Shared Link

ScienceDaily (Mar. 5, 2008)
jbuckeye Newbie
jbuckeye
Posted
  • Author

I called Kimball and told them that it was very odd that I would be negative DQ2 and 8 since I was a biopsy proven celiac with a mother who was DQ2 positive and a paternal aunt with Celiac disease. They agreed and said they were going to rerun the test. I called a couple of days later, and they said that the picture was "getting clearer" and that they were sending my sample to a larger lab for gene sequencing--or maybe it was gene typing--can't remember-sorry. Very very interesting, but it makes me worry about other family members who have been told that they are DQ2 and 8 negative--like my son.

nora-n Rookie
nora-n
Posted

Wow , really thought-provoking.

Like Dr. Lewey writes. He has two patients who he thinks are mistyped.

I think the wiki DQ page has the anwer to what happened: They maybe used the cheap serotyping first.

"To detect these potential combinations one uses a technique called SSP-PCR (Sequence specific primer polymerase chain reaction). This techniques works because, outside of a few areas of Africa, we know the overwhelming majority of all DQ alleles in the world. The primers are specific for known DQ and thus, if a product is seen it means that gene motif is present. This results in nearly 100% accurate typing of DQA1 and DQB1 alleles."

So we have to request sequence specific primer polymerase chain reaction.

Now which lab does that? Kimball obviously does not. It would be interesting to know which lab does that.

nora-n Rookie
nora-n
Posted

Added: here it says Kimball uses PCR testing, the type that is better according to the Wikipedia page on DQ.

https://www.celiac.com/articles/834/1/-Your...dams/Page1.html

"PCR analysis for DQ2 alleles (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 allele (DQB1*0302). "

Maybe their method was not sensitive enought for DQ8, or the method for DQ8 is more difficult, since tehre seem to be several different DQ8 gene types, or you have half a DQ8 gene and they only test the beta chain (according to their site they only test the beta chain for Dq8) ?

Anyway, the wikipedia page says tests for DQ2 are more accurate, leaving DQ8 less accurate by deduction....your case just proved that.

jbuckeye Newbie
jbuckeye
Posted
  • Author

It's VERY interesting and somewhat confusing. We're now waiting for my son's results from Kimball.

Archived

This topic is now archived and is closed to further replies.

Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. trents
      - trents replied to mamaof7's topic in Parents, Friends and Loved Ones of Celiacs
      7

      Help understand results

      Actually, it would be more correct to say that the genetic potential to develop celiac disease is passed down from parents to children. About 40% of the general population has the genetic potential to develop celiac disease but only about 1% of the general population actually do. But it is also true that the offspring of those who do have active celiac disease...
    2. Jordan Carlson
      - Jordan Carlson posted a topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      0

      Fruits & Veggies

      Hello everyone! Been a while since I posted. The past few moths have been the best by for recovery for myself. I have been the least bloated I have ever been, my constant throat clearing is almost gone, I have stopped almost all medication I was prevously taking (was taking vyvanse for adhd, pristiq for anxiety,fomotadine/blexten for histamine...
    3. wellthatsfun
      - wellthatsfun posted a topic in Gluten-Free Recipes & Cooking Tips
      0

      heaps of hope!

      i know i've been rather cynical and sad about being fully diagnosed in june 2025, but my boyfriend has been consistently showing me the wonderful world that is gluten free cooking and baking. in the past couple of days he's made me a gluten free rice paper-wrapped spanakopita "pastry", plus a wonderful mac and cheese bechamel-ish sauce with gluten free...
    4. Tanisha L
      - Tanisha L commented on Scott Adams's article in Kids and Celiac Disease
      1

      New Study Reveals Age and Racial Gaps in Pediatric Celiac Testing

      I am a 47yr old African American woman and did not receive a celiac diagnosis until 2yrs ago. This late diagnosis proved to be challenging to me because it was a culture shock to me. I have a cultural background of Hispanic and West Indian and a lot of our foods are heavy flour based. I was told be my dietician that unfortunately African American families...
    5. knitty kitty
      - knitty kitty replied to mamaof7's topic in Parents, Friends and Loved Ones of Celiacs
      7

      Help understand results

      That test is saying that your daughter is not making normal amounts of any IGA antibodies. She's not making normal amounts of antibodies against gliadin, not against bacteria, not against viruses. She is deficient in total IGA, so the test for antigliadin antibodies is not valid. The test was a failure. The test only works if all different kinds of antibodies...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      132,997
    • Most Online (within 30 mins)
      7,748
    IwannabHealthy
    Newest Member
    IwannabHealthy
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • trents
      Help understand results

      By trents · Posted

      Actually, it would be more correct to say that the genetic potential to develop celiac disease is passed down from parents to children. About 40% of the general population has the genetic potential to develop celiac disease but only about 1% of the general population actually do. But it is also true that the offspring of those who do have active celiac disease are at a considerably higher risk of developing active celiac disease than those of parents who have the genes but don't develop the disease. Some recent, larger studies put the risk at near 50% for the first degree relatives of those who have active celiac disease.
    • Jordan Carlson
      Fruits & Veggies

      By Jordan Carlson · Posted

      Hello everyone! Been a while since I posted. The past few moths have been the best by for recovery for myself. I have been the least bloated I have ever been, my constant throat clearing is almost gone, I have stopped almost all medication I was prevously taking (was taking vyvanse for adhd, pristiq for anxiety,fomotadine/blexten for histamine blockers and singulair). Only thing I take now is Tecta. I also no longer get any rashes after eating. Things are going very well. Most success came actually once I upped my B12 daily dose to 5,000 mcg. I do have one thing I am un able to figure out and want to see if anyone else has this issue or has experience working around it. Ever since I was born I have always had a issue getting fruits and veggies down. No matter how hard I tried, it would always result in gagging or throwing up. Always just thought I was a picky eater. Now that my stomach and system has healed enough that I can feel when something is off almost istantly, I notice that after eating most fruits (sometimes I am ok with bananas) and veggies, my stomach instantly starts burning and my heart starts to pound and I get really anxious as if my body doesnt know what to do with what just enetered it. So I am thinking now that this is what probably was going on when I was born and my body started rejecting it before which caused this weird sensory issue with it causing the gagging. Hoping someone has some exprience with this as well because I would love to be able to enjoy a nice fruit smoothie once in a while haha. Thanks everyone!
    • wellthatsfun
      heaps of hope!

      By wellthatsfun · Posted

      i know i've been rather cynical and sad about being fully diagnosed in june 2025, but my boyfriend has been consistently showing me the wonderful world that is gluten free cooking and baking. in the past couple of days he's made me a gluten free rice paper-wrapped spanakopita "pastry", plus a wonderful mac and cheese bechamel-ish sauce with gluten free pasta (san remo brand if you're in australia/if you can get your hands on it wherever you are).  those meals are notably gluten free, but mainly he's been making me easy gluten free meals - chili mince with white rice and sour cream, chicken soup with homemade stock from the chicken remains, and roast chickens with rice flour gravy and roast veggies. i'm a bit too thankful and grateful lol. how lucky could i possibly be? and, of course, for those who don't have someone to cook for them, it's quite easy to learn to cook for yourself. i've been making a lot of meals for us too. honestly, cooking is pretty darn fun! knowing basic knife skills and sanitary practices are all you really need. experimenting with spices will help you get on track to creating some really flavourful and yummy dishes. coeliac is a pain, but you can use it to your advantage. healthier eating and having fun in the kitchen are major upsides. much luck to all of you! let's be healthy!
    • knitty kitty
      Help understand results

      By knitty kitty · Posted

      That test is saying that your daughter is not making normal amounts of any IGA antibodies.  She's not making normal amounts of antibodies against gliadin, not against bacteria, not against viruses.  She is deficient in total IGA, so the test for antigliadin antibodies is not valid.  The test was a failure.  The test only works if all different kinds of antibodies were being made.  Your daughter is not making all different kinds of antibodies, so the test results are moot.  Your daughter should have the DGP IgG and TTG IgG tests done.   The tests should be performed while she is still consuming gluten.  Stopping and restarting a gluten containing diet can make her more sick, just like you refuse to eat gluten for testing.  Call the doctor's office, request both the IGG tests. Request to be put on the cancellation list for an appointment sooner.  Ask for genetic testing.   Celiac disease is passed on from parents to children.  You and all seven children should be tested for genes for Celiac disease.  Your parents, your siblings and their children should be tested as well.  Eating gluten is not required for genetic testing because your genes don't change.  Genetic testing is not a diagnosis of Celiac disease.  Just having the genes means there is the potential of developing Celiac disease if the Celiac genes are activated.  Genetic testing helps us decide if the Celiac genes are activated when coupled with physical symptoms, antibody testing, and biopsy examination. It's frustrating when doctors get it wrong and we suffer for it.  Hang in there.  You're a good mom for pursuing this!  
    • knitty kitty
      Insomnia help

      By knitty kitty · Posted

      @hjayne19, So glad you found the information helpful.  I know how difficult my struggle with anxiety has been.  I've been finding things that helped me and sharing that with others makes my journey worthwhile. I like Life Extension Bioactive Complete B Complex.  It contains the easily activated forms of B vitamins needed by people with the MTHFR genetic variation often found with Celiac disease.   Avoid B Complex vitamins if they contain Thiamine Mononitrate if possible.  (Read the ingredients listing.)  Thiamine Mononitrate is the "shelf-stable" form of B 1 that the body can't utilize.  B vitamins breakdown when exposed to heat and light, and over time.  So "shelf-stable" forms won't breakdown sitting on a shelf in a bright store waiting to be bought.  (It's also very cheap.)  Thiamine Mononitrate is so shelf-stable that the body only absorbs about thirty percent of it, and less than that is utilized.  It takes thiamine already in the body to turn Thiamine Mononitrate into an active form.   I take MegaBenfotiamine by Life Extension.  Benfotiamine has been shown to promote intestinal healing, neuropathy, brain function, glycemic control, and athletic performance.   I take TTFD-B1 Max by Maxlife Naturals, Ecological Formulas Allthiamine (TTFD), or Thiamax by EO Nutrition.  Thiamine Tetrahydrofurfuryl Disulfide (TTFD for short) gets into the brain and makes a huge difference with the anxiety and getting the brain off the hamster wheel.  Especially when taken with Magnesium Threonate.   Any form of Thiamine needs Magnesium to make life sustaining enzymes and energy.  I like NeuroMag by Life Extension.  It contains Magnesium Threonate, a form of magnesium that easily crosses the blood brain barrier.  My brain felt like it gave a huge sigh of relief and relaxed when I started taking this and still makes a difference daily.   Other brands of supplements i like are Now Foods, Amazing Formulas, Doctor's Best, Nature's Way, Best Naturals, Thorne, EO Nutrition. Naturewise.  But I do read the ingredients labels all the time just to be sure they are gluten and dairy free. Glad to help with further questions.  
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.