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

Are You A Biopsy Confirmed Celiac But Gene Negative?

researchmomma

Gene Testing  

6 members have voted

You do not have permission to vote in this poll, or see the poll results. Please sign in or register to vote in this poll.

Recommended Posts

researchmomma Contributor
researchmomma
Posted

I am frustrated by the pat answer: if you don't have the DQ2 or DQ8 genes you do NOT have Celiac. In Europe, they recognize several other HLA DQ genes as Celiac genes. In addition, there has been research to suggest that even if you don't have any of the HLA genes, you can still have Celiac.

The GI we go to insists that all Celiac patients have either DQ2 or DQ8 (100% confidence). I know this isn't true since I have conversed with at least one person on this site that is not DQ2 or DQ8 and had a positive biopsy for Celiac Disease.

So I would like to be able to tell her how many people on this site are confirmed Celiac by biopsy and gene negative for DQ2 or 8. I realize that I just want to prove her wrong but I can't help myself because some sick person with Celiac could walk out of her office undiagnosed and eating gluten! Or maybe I am crazy. Feel free to let me know! :D

All comments welcome.

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

Celiac.com Sponsor (A8-M):


ravenwoodglass Mentor
ravenwoodglass
Posted

Although the second challenge my GI insisted on resulted in a severe GI bleed so I was unable to have the biopsy my DD did have one and much later had her genes tested. Our GI diagnosed her based on positive blood work and biopsy but later when had had gone to college she had her genes tested and her new GI told her she couldn't be celiac because she didn't have the genes for it. I am a double DQ9 so she has to have at least one copy of that gene but I don't know the results of her other gene.

I am a firmly diagnosed celiac who didn't show up in the older tests and I don't carry either of the most common celiac associated genes. IMHO the gene tests should not be considered diagnostic one way or the other. There are celiacs without those genes and there are folks who do have the genes and never develop celiac.

I answered the poll with her results as I didn't have an endo until after I was well healed 5 years after diagnosis.

sa1937 Community Regular
sa1937
Posted

I'd be curious to know how many people are blood and biopsy diagnosed who have no clue what their genes are. I'd be one of them.

catsmeow Contributor
catsmeow
Posted

I do not not have Celiac's, I have a wheat allergy and am gluten sensitive. I did have a Celiac blood test, but it was negative, by the time my doc tested me, I had been gluten-free for a year. I did Gene testing and it showed that I do not have Celiac genes, I have gluten sensitive genes.

My results:

Gluten Sensitivity Gene Test

HLA-DQB1 Molecular analysis, Allele 1 0501

HLA-DQB1 Molecular analysis, Allele 2 0402

Serologic equivalent: HLA-DQ 1,4 (Subtype 5,4)

Interpretation Of HLA-DQ Testing: Although you do not possess one of the main HLA-DQB1 genes predisposing to celiac sprue (HLA-DQB1*0201 or HLA-DQB1*0302), HLA gene analysis reveals that you have one copy of a gene that predisposes to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having one of these genes means that each of your offspring has a 50% chance of receiving this gene from you, and at least one of your parents passed it to you. This test was developed and its performance characteristics determined by the American Red Cross - Northeast Division. It has not been cleared or approved by the U.S. Food and Drug Administration.

IrishHeart Veteran
IrishHeart
Posted

My GI doc told me he biopsied a man who had neither of these genes and his villi were totally flat. He said "so much for the 'celiac genes"."

catsmeow Contributor
catsmeow
Posted

My GI doc told me he biopsied a man who had neither of these genes and his villi were totally flat. He said "so much for the 'celiac genes"."

Yep...it makes me wonder sometimes.......... :huh:

researchmomma Contributor
researchmomma
Posted
  • Author

Thank you for answering. I hope more do.

I had dinner last night with a good friend who is a Dermatologist. I shared my story with her and she said I completely believe there are people out there that are DQ2 or 8 negative with Celiac.

She has had 3 patients quite recently that had DH and she sent them to a GI. The GIs did blood work and GI testing and because the gene test was negative they were told that they weren't Celiac. The patients came back to her and she was shocked at the stupidity. She told these patients to go gluten free and she does not refer to THAT GI anymore.

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

Celiac.com Sponsor (A8-M):


IrishHeart Veteran
IrishHeart
Posted

Thank you for answering. I hope more do.

I had dinner last night with a good friend who is a Dermatologist. I shared my story with her and she said I completely believe there are people out there that are DQ2 or 8 negative with Celiac.

She has had 3 patients quite recently that had DH and she sent them to a GI. The GIs did blood work and GI testing and because the gene test was negative they were told that they weren't Celiac. The patients came back to her and she was shocked at the stupidity. She told these patients to go gluten free and she does not refer to THAT GI anymore.

This DERM needs to send this GI some CURRENT medical info that states plainly that DH IS the skin manifestation of CELIAC!!!!!! For theloveofmike.... :angry:

She can DX them with biopsy of the lesions.

maramelia Newbie
maramelia
Posted

Thank you for answering. I hope more do.

I had dinner last night with a good friend who is a Dermatologist. I shared my story with her and she said I completely believe there are people out there that are DQ2 or 8 negative with Celiac.

She has had 3 patients quite recently that had DH and she sent them to a GI. The GIs did blood work and GI testing and because the gene test was negative they were told that they weren't Celiac. The patients came back to her and she was shocked at the stupidity. She told these patients to go gluten free and she does not refer to THAT GI anymore.

researchmomma, i loved your poll!!!

for our knowledge: my boy started this year to decline on growth, achieved 2.5% of growth chart curve >> short stature >>> began investigation >> ferroprive anemia + hypothyroidism + short stature + inconclusive GH deficiency blood exams >> TTG mild positive >>> EMA negative >> Marsh I positive biopsy >>> started GFD in Nov 18/2011 >> did HLA gene tests concomitantly === NEGATIVE!!!!

Our gastroped >>> maintain gluten free diet >>> lets wait >>> today, after 5 weeks of no gluten >>> HUGE IMPROVEMENT OF GI SYMPTOMS (eating better, no distentions, no more mild abdominal pain)...

Last saturday, after nutritionist consultation >>> he is 1cm taller than 1 month ago!!!!!! coincidence?!

Im sure >>> If this os not celiac disease, it is some sort of gluten sensivity / intolerance / allergy / what whatever any expetise physician want to call this >>> and it is working!!!! my son is catching up growth, thanks to God, My Mother N. S. Aparecida (Gods Mother), and thanks to our pediatrician Dr. Marta, who was the one who send him to do the TTG blood exam, when everything started to suspect of celiac disease...

SO, i DO BELIEVE IN WHAT YOU THINK: although I'm a physician (actually, I'm a neurologist!!!), working in academic practice here in Brazil, and i really believe in research, clinical and med papers, clinical studies, large clinical trials, epidemiological studies, etc... I know there are some studies with the story of 98% of HLA positive exams in celiac disease...

I think there are more things than what we doctors know today about celiac disease... And this story of only 0,4% of celiac disease patients being negative-HLA DQ2 and DQ8... hummm... this is strange : there is no 100% negative predictive value or 100% positive predictive value blood exam... i don't believe in this...

If you want, i can send you an article written by Alessio Catassi, about this field...

Regards, Mara

maramelia Newbie
maramelia
Posted

researchmomma, i loved your poll!!!

for our knowledge: my boy started this year to decline on growth, achieved 2.5% of growth chart curve >> short stature >>> began investigation >> ferroprive anemia + hypothyroidism + short stature + inconclusive GH deficiency blood exams >> TTG mild positive >>> EMA negative >> Marsh I positive biopsy >>> started GFD in Nov 18/2011 >> did HLA gene tests concomitantly === NEGATIVE!!!!

Our gastroped >>> maintain gluten free diet >>> lets wait >>> today, after 5 weeks of no gluten >>> HUGE IMPROVEMENT OF GI SYMPTOMS (eating better, no distentions, no more mild abdominal pain)...

Last saturday, after nutritionist consultation >>> he is 1cm taller than 1 month ago!!!!!! coincidence?!

Im sure >>> If this os not celiac disease, it is some sort of gluten sensivity / intolerance / allergy / what whatever any expetise physician want to call this >>> and it is working!!!! my son is catching up growth, thanks to God, My Mother N. S. Aparecida (Gods Mother), and thanks to our pediatrician Dr. Marta, who was the one who send him to do the TTG blood exam, when everything started to suspect of celiac disease...

SO, i DO BELIEVE IN WHAT YOU THINK: although I'm a physician (actually, I'm a neurologist!!!), working in academic practice here in Brazil, and i really believe in research, clinical and med papers, clinical studies, large clinical trials, epidemiological studies, etc... I know there are some studies with the story of 98% of HLA positive exams in celiac disease...

I think there are more things than what we doctors know today about celiac disease... And this story of only 0,4% of celiac disease patients being negative-HLA DQ2 and DQ8... hummm... this is strange : there is no 100% negative predictive value or 100% positive predictive value blood exam... i don't believe in this...

If you want, i can send you an article written by Alessio Catassi, about this field...

Regards, Mara

by the way, I'm one who answered your poll / research!!! my pacient (my boy) is a negative HLA and positive Biopsy... i don't know if he is celiac, but he is doing very good on GFD. We know biopsy results are not so specific for celiac disease, they may show just an inflammatory enteropathy... but... whatever!!!!

love2travel Mentor
love2travel
Posted

I'd be curious to know how many people are blood and biopsy diagnosed who have no clue what their genes are. I'd be one of them.

As am I. I have no idea. :huh:

IrishHeart Veteran
IrishHeart
Posted

Genetic testing can be done through your physician or by independent labs.

Saliva, blood or stool sample.

I did mine by saliva swab, but my GI wanted to confirm via stool testing.

Results were the same. (For those who doubt Enterolab's saliva gene test)

Bubba's Mom Enthusiast
Bubba's Mom
Posted

I had negative blood tests, but positive endoscope. I wasn't given the gene test.

I just went to a new GI because my health hasn't been improving. He ordered the gene test. He told me it can tell if I DON'T have Celiac..but can't definitely say I do.

I'm wondering if he is one who thinks you MUST have DQ2 or DQ8?

I've read that there are other genes that show gluten problems.

It will be interesting to see what my results will be.

IrishHeart Veteran
IrishHeart
Posted

I had negative blood tests, but positive endoscope. I wasn't given the gene test.

I just went to a new GI because my health hasn't been improving. He ordered the gene test. He told me it can tell if I DON'T have Celiac..but can't definitely say I do.

I'm wondering if he is one who thinks you MUST have DQ2 or DQ8?

I've read that there are other genes that show gluten problems.

It will be interesting to see what my results will be.

I do not understand. You had a positive biopsy & you have celiac, so why would he bother?????? A genetic test was primarily used as a means of exclusion.

Does he think the villi were damaged by some other means?

Skylark Collaborator
Skylark
Posted

Your question has already been answered with a 10,000 person genetic study. There are a few biopsy-confirmed celiacs without the genes. The risk of having celiac disease without DQ2 or DQ8 in the study was 0.16%, meaning it's unusual but absolutely not impossible.

Open Original Shared Link

Roda Rising Star
Roda
Posted

I'd be curious to know how many people are blood and biopsy diagnosed who have no clue what their genes are. I'd be one of them.

Me too! Blood and biopsy diagnosed. I've never had the gene testing done. I am considering it for my youngest son. If he was to have the two "common" genes I could get an official diagnosis for him since we didn't put him through a biopsy. Then again I know he has celiac and I may just leave it at that!

Bubba's Mom Enthusiast
Bubba's Mom
Posted

I do not understand. You had a positive biopsy & you have celiac, so why would he bother?????? A genetic test was primarily used as a means of exclusion.

Does he think the villi were damaged by some other means?

My PCP doesn't believe the DX I got because I had negative blood work. I also have been having ongoing nausea, insomnia, and weight loss. When I asked her to run a blood panel to see if I was low on some vitamin or mineral she asked if I take a multi-vitamin and I said yes. She told me that I couldn't be lacking anything then and refused the test. She treats me like a hypochondriac.

My biopsy report also mentioned a couple other things that could be looked into. I went to a new GI to see if he could figure out why I'm not feeling better. He said I should have the genetic test.

frieze Community Regular
frieze
Posted

Your question has already been answered with a 10,000 person genetic study. There are a few biopsy-confirmed celiacs without the genes. The risk of having celiac disease without DQ2 or DQ8 in the study was 0.16%, meaning it's unusual but absolutely not impossible.

Open Original Shared Link

but what about persons that were refused the biopsy because they were gene negative?

researchmomma Contributor
researchmomma
Posted
  • Author

researchmomma, i loved your poll!!!

for our knowledge: my boy started this year to decline on growth, achieved 2.5% of growth chart curve >> short stature >>> began investigation >> ferroprive anemia + hypothyroidism + short stature + inconclusive GH deficiency blood exams >> TTG mild positive >>> EMA negative >> Marsh I positive biopsy >>> started GFD in Nov 18/2011 >> did HLA gene tests concomitantly === NEGATIVE!!!!

Our gastroped >>> maintain gluten free diet >>> lets wait >>> today, after 5 weeks of no gluten >>> HUGE IMPROVEMENT OF GI SYMPTOMS (eating better, no distentions, no more mild abdominal pain)...

Last saturday, after nutritionist consultation >>> he is 1cm taller than 1 month ago!!!!!! coincidence?!

Im sure >>> If this os not celiac disease, it is some sort of gluten sensivity / intolerance / allergy / what whatever any expetise physician want to call this >>> and it is working!!!! my son is catching up growth, thanks to God, My Mother N. S. Aparecida (Gods Mother), and thanks to our pediatrician Dr. Marta, who was the one who send him to do the TTG blood exam, when everything started to suspect of celiac disease...

SO, i DO BELIEVE IN WHAT YOU THINK: although I'm a physician (actually, I'm a neurologist!!!), working in academic practice here in Brazil, and i really believe in research, clinical and med papers, clinical studies, large clinical trials, epidemiological studies, etc... I know there are some studies with the story of 98% of HLA positive exams in celiac disease...

I think there are more things than what we doctors know today about celiac disease... And this story of only 0,4% of celiac disease patients being negative-HLA DQ2 and DQ8... hummm... this is strange : there is no 100% negative predictive value or 100% positive predictive value blood exam... i don't believe in this...

If you want, i can send you an article written by Alessio Catassi, about this field...

Regards, Mara

Mara, I would love the article. I am sorry it took me so long to respond. At a friend's advice I skipped the word gluten free yesterday because it has been all consuming. It was such a nice mental break!!! But I am BACK.

Here is what I learned from a researcher that is doing non-HLA studies at University California Irvine: 5% of confirmed Celiacs are gene negative (registry of 1015 celiacs from all over the world, I will confirm that number with her)! She doesn't understand why our GI won't biopsy my daughter. BUT it doesn't matter. We are gluten free now and we will see how we do.

Someone said "So what is this nonsense about going gluten free". How RUDE. And I promised by daughter that I was gluten-free with her. I SWORE it to her and this friend said eat the pizza I brought she won't know. UGH. I am doing this so I know how difficult her challenges are when she goes to someones house for dinner or goes out to eat. She needs my support at 12 years old.

Sorry for venting. It was a rough day and she had a sore stomach last night after 10 days of gluten-free and doing pretty well. So my hubs is now thinking it isn't gluten. Luckily someone on here had posted about up and down days in early states of going gluten-free.

Rant over. Thanks!

researchmomma Contributor
researchmomma
Posted
  • Author

My GI doc told me he biopsied a man who had neither of these genes and his villi were totally flat. He said "so much for the 'celiac genes"."

Wow, what an open minded individual.

researchmomma Contributor
researchmomma
Posted
  • Author

but what about persons that were refused the biopsy because they were gene negative?

Like my daughter.

AND as I said before there is a large registry study at UCI and they said 5% of the individuals with biopsy confirmed celiac did not have the HLA DQ 2 or 8 genes. She said that is "a lot" of people and your GI should know that.

Skylark Collaborator
Skylark
Posted

but what about persons that were refused the biopsy because they were gene negative?

Did you even bother to read the abstract??? :blink:

As the abstract states, they were looking at anti-EMA IgA as the measure of celiac and tested genes and antibodies at the same time in a single blood draw. Anti-EMA has about a 25% false negative rate but it's very specific. There will be a bit of underestimation of celiac rates across the study, but the relative risk across genotypes is not affected.

Skylark Collaborator
Skylark
Posted

Someone said "So what is this nonsense about going gluten free". How RUDE. And I promised by daughter that I was gluten-free with her. I SWORE it to her and this friend said eat the pizza I brought she won't know. UGH. I am doing this so I know how difficult her challenges are when she goes to someones house for dinner or goes out to eat. She needs my support at 12 years old.

You might be the best mom ever. I'm deeply impressed that you are struggling through the diet to support your daughter.

researchmomma Contributor
researchmomma
Posted
  • Author

You might be the best mom ever. I'm deeply impressed that you are struggling through the diet to support your daughter.

What a nice comment. I have had a rough week so this was nice to hear. I bet there are loads and loads of moms that do this.

maramelia Newbie
maramelia
Posted

Did you even bother to read the abstract??? :blink:

As the abstract states, they were looking at anti-EMA IgA as the measure of celiac and tested genes and antibodies at the same time in a single blood draw. Anti-EMA has about a 25% false negative rate but it's very specific. There will be a bit of underestimation of celiac rates across the study, but the relative risk across genotypes is not affected.

i read the abstact, didnt read the hole article, but i have some considerations:

- methodology = in the 10,000 pts article, did they use the EMA as the celiac disease confirmation? in my opinion, this is not a good accuracy method to compare the HLA tests...

- in my opinion, the best would be to compare people with a kind of multiple dignostic criteria, just like, for example, response to GFD+ positive biopsy + some sort of aditional symptoms, just like ferroprive anemia / autoimune symptom / DH or hypothoroidism or classical symptoms... === and in those with no doubt of celiac disease >>> to do the gene tests...

- to do a study to screen people, this makes the methodology works to the tests...

rgds mara

Archived

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

Go to topic listing
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      131,963
    • Most Online (within 30 mins)
      7,748
    AlissaW
    Newest Member
    AlissaW
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • Scott Adams
      Does anyone here also have Afib

      By Scott Adams · Posted

      If black seed oil is working for his Afib, stick to it, but if not, I can say that ablation therapy is no big deal--my mother was out of the procedure in about 1 hour and went home that evening, and had zero negative effects from the treatment. PS - I would recommend that your husband get an Apple watch to monitor his Afib--there is an app and it will take readings 24/7 and give reports on how much of the time he's in it. Actual data like this should be what should guide his treatment.
    • Jacki Espo
      Covid caused reoccurrence of DH without eating gluten

      By Jacki Espo · Posted

      This happened to me as well. What’s weirder is that within a couple hours of taking paxlovid it subsided. I thought maybe I got glutened but after reading your post not so sure. 
    • Mari
      New Celiac Mama in My 30s

      By Mari · Posted

      Hi Tiffany. Thank you for writing your dituation and  circumstancesin such detail and so well writte, too. I particularly noticed what you wrote about brain for and feeling like your brain is swelling and I know from my own experiences that's how it feel and your brain really does swell and you get migraines.    Way back when I was in my 20s I read a book by 2 MD allergist and they described their patient who came in complaining that her brain, inside her cranium, was swelling  and it happened when she smelled a certain chemical she used in her home. She kept coming back and insisting her brain actually swelled in her head. The Drs couldn't explain this problem so they, with her permission, performed an operation where they made a small opening through her cranium, exposed her to the chemical then watched as she brain did swell into the opening. The DRs were amazed but then were able to advise her to avoid chemicals that made her brain swell. I remember that because I occasionally had brain fog then but it was not a serious problem. I also realized that I was becoming more sensitive to chemicals I used in my work in medical laboratories. By my mid forties the brain fog and chemicals forced me to leave my  profession and move to a rural area with little pollution. I did not have migraines. I was told a little later that I had a more porous blood brain barrier than other people. Chemicals in the air would go up into my sinused and leak through the blood brain barrier into my brain. We have 2 arteries  in our neck that carry blood with the nutrients and oxygen into the brain. To remove the fluids and used blood from the brain there are only capillaries and no large veins to carry it away so all those fluids ooze out much more slowly than they came in and since the small capillaries can't take care of extra fluid it results in swelling in the face, especially around the eyes. My blood flow into my brain is different from most other people as I have an arterial ischema, adefectiveartery on one side.   I have to go forward about 20 or more years when I learned that I had glaucoma, an eye problem that causes blindness and more years until I learned I had celiac disease.  The eye Dr described my glaucoma as a very slow loss of vision that I wouldn't  notice until had noticeable loss of sight.  I could have my eye pressure checked regularly or it would be best to have the cataracts removed from both eyes. I kept putting off the surgery then just overnight lost most of the vision in my left eye. I thought at the I had been exposed to some chemical and found out a little later the person who livedbehind me was using some chemicals to build kayaks in a shed behind my house. I did not realize the signifance  of this until I started having appointments with a Dr. in a new building. New buildings give me brain fog, loss of balance and other problems I know about this time I experienced visual disturbances very similar to those experienced by people with migraines. I looked further online and read that people with glaucoma can suffer rapid loss of sight if they have silent migraines (no headache). The remedy for migraines is to identify and avoid the triggers. I already know most of my triggers - aromatic chemicals, some cleaning materials, gasoline and exhaust and mold toxins. I am very careful about using cleaning agents using mostly borax and baking powder. Anything that has any fragrance or smell I avoid. There is one brand of dishwashing detergent that I can use and several brands of  scouring powder. I hope you find some of this helpful and useful. I have not seen any evidence that Celiac Disease is involved with migraines or glaucoma. Please come back if you have questions or if what I wrote doesn't make senseto you. We sometimes haveto learn by experience and finding out why we have some problems. Take care.       The report did not mention migraines. 
    • Mari
      My only proof

      By Mari · Posted

      Hi Jmartes71 That is so much like my story! You probably know where Laytonville is and that's where I was living just before my 60th birthday when the new Dr. suggested I could have Celiacs. I didn't go on a gluten challange diet before having the Celiac panel blood test drawn. The results came back as equivical as one antibody level was very high but another, tissue transaminasewas normal. Itdid show I was  allergic to cows milk and I think hot peppers. I immediately went gluten free but did not go in for an endoscopy. I found an online lab online that would do the test to show if I had a main celiac gene (enterolab.com). The report came back that I had inherited a main celiac gene, DQ8, from one parent and a D!6 from the other parent. That combination is knows to sym[tons of celiac worse than just inheriting one main celiac gene. With my version of celiac disease I was mostly constipated but after going gluten-free I would have diarrhea the few times I was glutened either by cross contamination or eating some food containing gluten. I have stayed gluten-free for almost 20 years now and knew within a few days that it was right for me although my recovery has been slow.   When I go to see a  medical provide and tell them I have celiacs they don't believe me. The same when I tell them that I carry a main celiac gene, the DQ8. It is only when I tell them that I get diarrhea after eating gluten that they realize that I might have celiac disease. Then they will order th Vitamin B12 and D3 that I need to monitor as my B12 levels can go down very fast if I'm not taking enough of it. Medical providers haven't been much help in my recovery. They are not well trained in this problem. I really hope this helps ypu. Take care.      
    • knitty kitty
      Does anyone here also have Afib

      By knitty kitty · Posted

      Fascinating.
×
×
  • 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.