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

genetic tests

CherylS

Recommended Posts

CherylS Apprentice
CherylS
Posted

Hello,

I was here a bit  in October when I was confused about some symptoms I was experiencing.  I thought maybe Celiac, but hoped not.  My doctor ran a celiac panel, which I realize now wasn't a full panel, she ran 3 tests, which were negative.  She told me that I could still have Celiac and sent me to a GI doctor for a consult.  I was happy the day I got my results and started thinking that my symptoms were in my head.  I thought about not going to the GI appointment and seeing how I felt, then I got this terrible rash that I get from time to time, super itchy, yet burns when you touch it, it keeps me up at night.  I did a little research and realized it could be DH and decided to keep my appointment with the GI doctor.

The GI doctor was awesome, very willing to listen to my concerns.  She is going to do an EGD with biopsies and a colonscopy (what triggered this was treatment resistent iron deficiency anemia).  I also have autoimmune hepatitis and a hiatal hernia so she feels like even if I don't have celiac, she still wants to take a look at things.  She tossed around things like FODMAP, wheat allergy, eosinophil esophagus.  She suggested a genetic test for celiac, she said if it was postitive it meant that I had the genetic potential to develop celiac and if it was negative that I didn't have the genetic potential to develop it.  I looked at my results and some are postitive and some are negative.  I realize that only one needs to be positive, but I was unsure about the numbers, does anyone know what this means?

I thought I could paste a snip but I can't... ugh

HLA DQ2 Negative

HLA DQ8 Positive

HLA DQA1* 03

HLA DQB1* 0302

HLA DQB1* 0301

HLA Variants detected: HLA DQA1* 03

I'm glad she did this test, I can make sure she follows the proper recommmendations for the number/locations of biopsies.  I'm not getting the procedures done until January 8, I don't want to meet the deductible of my high deductible insurance in December, then have to meet it again next year since we are so close to the end of the year.

 

 

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

Celiac.com Sponsor (A8-M):


CherylS Apprentice
CherylS
Posted
  • Author

I'm not sure if I've offended someone, or if nobody comes around these parts, but I feel kind of snubbed.  Maybe there's a different forum where people are active?  I did a search of these forums for what I'm looking for, but I haven't found it on this site.  I'm sorry if I'm annoying for asking the same question that has been asked before, but I thought this was a support forum, where people supported each other, I can find info and try to decipher it on my own, but I came here to talk it out with people who have been through this.

icelandgirl Proficient
icelandgirl
Posted

Hi Cheryl,

Im sorry that you feel snubbed... (hugs).  This board has been quiet lately for sure.  I don't know why...holidays?  But I don't think you've said anything offensive.   Would your GI be willing to run the remaining celiac tests?  That would be less expensive than the endoscopy.  I didn't have any genetic testing done so I can't answer anything related to that.  I do know that if it is DH  that you need a biopsy of the skin next to the rash and that can confirm a diagnosis without an endoscopy.  I hope that you get the help and answers that you need.

cyclinglady Grand Master
cyclinglady
Posted

Cheryl, 

I am sorry that you feel snubbed!  It has been a little slow lately and that seems to be the nature of forums!  Folks get busy or well!  Anyway, I do not have any expertise on genetic testing or DH (celiac disease rash), so that is why I did not respond.  I do know that if you look through the DH section, it can be more difficult to diagnose.  Blood tests can be negative if I recall.  Skin biopsies are really tricky.  Please research DH so that you are knowledgeable and can discuss it with your doctor.  

Remember that the genetic tests are just a tool that has been normally used to rule out celiac disease.  But the latest research shows that there are other genes involved depending on where you live in the world.  

It sounds like you have good doctors.   That is a relief!  With your autoimmine hepatitis and anemia, it sounds like you have celiac disease.   Something is wrong!

Hang in there!  

mommida Enthusiast
mommida
Posted

Sorry you feel snubbed.  My laptop died, so I jumped on someone elses computer today.

I am not a full believer in genetic testing as the end all definitive answer.  My family went through the genetic testing and had some questionable results.  I questioned the results and was told by Prometheus labs... Genes can mutate, there is still the 2% known miss rate, and all blood tests have a 30% human error rate.

You might want to look at some information on Pernicious anemia. 

Good luck on your testing.  Please keep us updated on your progress and ask any questions you would like.

There is also the gluten files Celiac group forum that gets very technical.  I think they are still running strong, but I prefer this group.  It seems a lot of our group got very personal and linked up with each other on facebook and such.

manasota Explorer
manasota
Posted

Hi CherylS!   Please don't feel slighted!  I'm sure plenty of us have read your post but didn't feel we had anything to help you.  Your situation is fairly complex and I don't share your issues.  Luckily, it does sound like you have good doctors--a HUGE advantage.

I imagine somebody with DH will respond and give you some tips about that.  There is lots of help here and lots of people who are very caring and kind.

Hang around and hang in there!  Best of luck!

GFinDC Veteran
GFinDC
Posted

Hi Cheryl,

Since you are still in the testing phase, be sure to keep eating gluten for now.  The antibodies that cause celiac damage decline after we stop eating gluten and are harder or impossible to detect after a while.  The IgA antibodies (DH) are deposited in the skin and blood tests don't include skin samples.  That's why they take a sample of skin next to a DH lesion when testing for antibodies.

I suppose you have heard of Hashimoto's Thyroiditis?  I see your interests include Grave's disease.  They test for Hashimoto's by testing for TPO antibodies.  Hashimoto's attacks the thyroid and can cause symptoms to swing between hyper and hypo thyroid.

There is a positive relationship between celiac disease and other auto-immune conditions.  It's not super unusual for people to have more than one auto-immune disease.  Some people say auto-immune diseases run in packs.

Later...

paul

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

Celiac.com Sponsor (A8-M):


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. Rejoicephd
      - Rejoicephd commented on Scott Adams's article in Origins of Celiac Disease
      8

      Do Antibiotics in Babies Increase Celiac Disease Risk Later in Life? (+Video)

      I had actually forgot about the stretch of time that I was on antibiotics for acne. The more I think back on it, I was on antibiotics for a very good chunk of my childhood and into teenage years for a range of issues.
    2. knitty kitty
      - knitty kitty replied to Known1's topic in Gluten-Free Foods, Products, Shopping & Medications
      1

      Reverse Osmosis (RO) Water

      I've heard RO water is bad, too. Distilled water has all the minerals distilled out of it, so it will pull minerals out of your bones, too. I only use distilled water to fill up my clothes iron so it won't get mineral deposits inside and quit working. I drink mineral or spring water.
    3. Yaya
      - Yaya replied to Yaya's topic in Gluten-Free Foods, Products, Shopping & Medications
      2

      Great Value Veggies cannot be trusted.

      Scott. Thank you for your reply. I'm still having symptoms, but significantly better. I will go back to batch cooking and freezing vegetables. I have had success with Pict Sweet frozen, single item (not mixed) vegetables. My Kroger carries very little Pict Sweet variety. Regards, Yaya
    4. Known1
      - Known1 posted a topic in Gluten-Free Foods, Products, Shopping & Medications
      1

      Reverse Osmosis (RO) Water

      I am hesitant to post this as I have seen many people here recommending RO water. With that said, I want to share my experience and how RO water now impacts me. Three or four years ago a local store installed a RO water refill station. I had been buying gallons of distilled and spring water prior to that. I switched over to using the RO water refill station...
    5. Known1
      - Known1 posted a topic in Gluten-Free Foods, Products, Shopping & Medications
      0

      What would you do - neighbor brought gluten-free pizza from Papa Murphy's

      My neighbor's mom was diagnosed with celiac disease 16 years ago. She is a very kind person and has shared some info about local grocery stores and daily (soon to expire) meat deals. This evening she brought over 2 slices of Papa Murphy's gluten-free pizza. It looks to be topped with chicken and spinach. I asked, "aren't you concerned with cross contamination...
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      133,442
    • Most Online (within 30 mins)
      7,748
    Peggy Vorell
    Newest Member
    Peggy Vorell
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.6k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • knitty kitty
      Reverse Osmosis (RO) Water

      By knitty kitty · Posted

      I've heard RO water is bad, too.   Distilled water has all the minerals distilled out of it, so it will pull minerals out of your bones, too.  I only use distilled water to fill up my clothes iron so it won't get mineral deposits inside and quit working. I drink mineral or spring water.  
    • Yaya
      Great Value Veggies cannot be trusted.

      By Yaya · Posted

      Scott.  Thank you for your reply. I'm still having symptoms, but significantly better.  I will go back to batch cooking and freezing vegetables.  I have had success with Pict Sweet frozen, single item (not mixed) vegetables.  My Kroger carries very little Pict Sweet variety. Regards, Yaya
    • Known1
      Reverse Osmosis (RO) Water

      By Known1 · Posted

      I am hesitant to post this as I have seen many people here recommending RO water.  With that said, I want to share my experience and how RO water now impacts me.  Three or four years ago a local store installed a RO water refill station.  I had been buying gallons of distilled and spring water prior to that.  I switched over to using the RO water refill station saving money by brining in my own clean empty gallon jugs.  Every 6-months I would replace the jugs by buying new gallons of distilled water.  This RO water is the only water I would drink while at home.  Two huge glasses every morning before work and two more after work.  I would also use the RO water to make coffee and hot coco. This past December, prior to my celiac diagnosis, my gut was making more noise than anything I had ever experienced.  Seriously, it was crazy, almost like fire works going off in my stomach.  I happened to pick up some distilled water for my 6-month jug rotation.  Literally, as soon as I started drinking the distilled water my stomach settled a great deal.  I could honestly feel the difference after the first glass of water.  I thought that maybe the RO water from the store's refill station was contaminated with some sort of cleaning agent.  I swore to myself I would never drink from that RO refill station again.  Instead I went back to buying distilled along with gallon jugs of spring water.  No issues with either of those as far as an upset stomach is concerned.  Cost, well that's a different story all together. After being diagnosed marsh 3c, I went shopping at Aldi's for the first time in my life.  I noticed they also sell water by the gallon.  Over the course of the last few weeks, I have purchased a total of 6-gallons of their water.  (Thankfully they were out on two of my visits.)  After having my stomach starting to make noises similar to mid-December again, it dawned on me, maybe its the Aldi water?  Initially I had contributed my bubble gut to some sort of gluten exposure or cross contamination.  Even though everything I have put into my stomach is naturally gluten-free or has been labeled gluten-free / certified gluten-free.  I had assumed that the Aldi water was spring water.  Come to find out, that was a bad assumption.  Looking close at the label it says purified by RO or distillation (or something like that). Again, I switched to different water.  Just like last December, the non-RO water instantly calmed my stomach and even felt better going down the hatch.  This was earlier today by the way.  Prior to creating this post, I did a few searches via Uncle Google.  I bumped into a thread on Reddit (where I am not a member) that has multiple people complaining of GI issues related to RO water.  So my initial thoughts on a cleaning agent in the refill station RO water were likely not correct.  Unfortunately, it seems the RO water itself causing me problems.  I am not sure if we are allowed to post links to other sites and hopefully I will not get into trouble for doing so.  I did try printing the Reddit thread to a PDF file.  Unfortunately, the file is 2MB in size, which is well over the 500KB file attachment limit here on this amazing forum.  Again, hopefully this is ok.  🤞  Here is the Reddit thread. This may not be a popular opinion here, but personally, I will not willingly drink another glass of RO water for the remainder of my life.  Who knows, maybe drinking RO water for the past several years is part of what activated my celiac?  No proof, but just a thought.  Come to find out RO water is well known to leech minerals from your body.  With people like us often lacking minerals to begin with, RO water does not seem like a wise choice.  As the Reddit thread mentions, there are RO water filtration systems that will inject minerals back into the water.  However, those systems are likely not being used at the grocery store refill stations nor by the bottling companies producing RO water for sale at your local store. Please do not shoot the messenger as I am just sharing my personal experience and letting others know that most RO water will leech minerals from your body. God bless and stay well, Known1
    • Known1
      What would you do - neighbor brought gluten-free pizza from Papa Murphy's

      By Known1 · Posted

      My neighbor's mom was diagnosed with celiac disease 16 years ago.  She is a very kind person and has shared some info about local grocery stores and daily (soon to expire) meat deals.  This evening she brought over 2 slices of Papa Murphy's gluten-free pizza.  It looks to be topped with chicken and spinach.  I asked, "aren't you concerned with cross contamination"?  She said no and apparently eats it on a somewhat regular basis. I found an old article here along with another thread pertaining to Papa Murphy's gluten-free pizza.  The article is quite old, so I do not think it holds much weight nowadays.  The thread I found was also a bit dated, but certainly more recent and relevant.  The information in the thread I found was a bit inconclusive.  Some said they trust Papa Murphy's gluten-free pizza and others were a big no way.  One person even took time to train their local franchise on how to ensure the pizza remains gluten-free without cross contamination. Anyway, being recently diagnosed as marsh 3c, I am currently working on week 3 or 4 in my new gluten-free journey.  I do not want to be rude and toss the pizza out, but I also do not want to have a reaction.  Since she has celiac and obviously ate much or at least some of the pizza, I am leaning towards eating the two slices for lunch tomorrow.  As this thread's title states, what would you do?  Would you eat it or toss it out?  I suppose I could also just give it back to my neighbor to polish off. I look forward to reading your thoughts. Thanks, Known1
    • Scott Adams
      Great Value Veggies cannot be trusted.

      By Scott Adams · Posted

      That must have been really upsetting to discover, especially after relying on a product you believed was safe. Labeling can change at any time due to supplier shifts or shared equipment, so it’s always important to double-check packaging—even on products we’ve trusted for years. A “may contain wheat” statement usually indicates potential cross-contact risk rather than an added ingredient, but for people with celiac disease that risk can still be significant. If you’ve been having symptoms, it may take days to weeks to fully settle, depending on the level and duration of exposure. In the meantime, switching to fresh produce or brands that clearly state gluten-free status is a reasonable step. It may also help to contact the manufacturer directly to ask when the labeling changed and what their current cross-contact controls are.
×
×
  • 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.