Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • 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

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

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

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

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

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

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

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.


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      131,198
    • Most Online (within 30 mins)
      7,748

    Jamie0230
    Newest Member
    Jamie0230
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • Scott Adams
      Clearly from what you've said the info on Dailymed is much more up to date than the other site, which hasn't been updated since 2017. The fact that some companies might be repackaging drugs does not mean the info on the ingredients is not correct.
    • RMJ
      To evaluate the TTG antibody result we’d need to know the normal range for that lab.  Labs don’t all use the same units.  However, based on any normal ranges that I’ve seen and the listed result being greater than a number rather than a specific number, I’d say yes, that is high! Higher than the range where the test can give a quantitative result. You got good advice not to change your diet yet.  If you went gluten free your intestines would start to heal, confusing any further testing,
    • Bev in Milw
      Scott is correct….Thank you for catching that!      Direct link for info  of fillers.    http://www.glutenfreedrugs.com/Excipients.htm Link is on 2nd page  of www.glutenfreedrugs.com   Site was started by a pharmacist (or 2) maybe 15-20 yrs ago with LAST updated in  2017.  This makes it’s Drug List so old that it’s no longer relevant. Companies & contacts, along with suppliers &  sources would need to be referenced, same amount effort  as starting with current data on DailyMed      That being said, Excipient List is still be relevant since major changes to product labeling occurred prior ’17.           List is the dictionary that sources the ‘foreign-to-us’ terms used on pharmaceutical labels, terms we need to rule out gluten.    Note on DailyMed INFO— When you look for a specific drug on DailyMed, notice that nearly all of companies (brands/labels) are flagged as a ‘Repackager’… This would seem to suggest the actual ‘pills’ are being mass produced by a limited number of wholesaler suppliers (esp for older meds out of  patent protection.).      If so, multiple repackager-get  bulk shipments  from same supplier will all  be selling identical meds —same formula/fillers. Others repackager-could be switching suppliers  frequently based on cost, or runs both gluten-free & non- items on same lines.  No way to know  without contacting company.     While some I know have  searched pharmacies chasing a specific brand, long-term  solution is to find (or teach) pharmacy staff who’s willing help.    When I got 1st Rx ~8 years ago, I went to Walgreens & said I needed gluten-free.  Walked  out when pharmacist said  ‘How am I supposed  to know…’  (ar least he as honest… ). Walmart pharmacists down the block were ‘No problem!’—Once, they wouldn’t release my Rx, still waiting on gluten-free status from a new supplier. Re: Timeliness of DailyMed info?   A serendipitous conversation with cousin in Mi was unexpectedly reassuring.  She works in office of Perrigo, major products of OTC meds (was 1st to add gluten-free labels).  I TOTALLY lucked out when I asked about her job: “TODAY I trained a new full-time employee to make entries to Daily Med.’  Task had grown to hours a day, time she needed for tasks that couldn’t be delegated….We can only hope majorities of companies are as  conscientious!   For the Newbies…. SOLE  purpose of  fillers (possible gluten) in meds is to  hold the active ingredients together in a doseable form.  Drugs  given by injection or as IV are always gluten-free!  (Sometimes drs can do antibiotics w/ one-time injection rather than 7-10 days of  pills .) Liquid meds (typically for kids)—still read labels, but  could be an a simpler option for some products…
    • Ginger38
      So I recently had allergy testing for IGE antibodies in response to foods. My test results came back positive to corn, white potatoes, egg whites. Tomatoes, almonds and peanuts to name a few.  I have had obvious reactions to a few of these - particularly tomatoes and corn- both GI issues. I don’t really understand all this allergy versus celiac stuff. If the food allergies are mild do I have to avoid these foods entirely? I don’t know what I will eat if I can’t  have corn based gluten free products 
    • JForman
      We have four children (7-14 yo), and our 7 year old was diagnosed with NCGS (though all Celiac labs were positive, her scope at 4 years old was negative so docs in the US won't call it celiac). We have started her on a Gluten Free diet after 3 years of major digestive issues and ruling out just about everything under the sun. Our home and kitchen and myself are all gluten-free. But I have not asked my husband/her dad or her other siblings to go completely gluten-free with us. They are at home, but not out of the home. This has led to situations when we are eating out where she has to consistently see others eating things she can't have and she has begun to say "Well, I can't have <fill in the blank>...stupid gluten."  How have you supported your gluten-free kiddos in the mental health space of this journey, especially young ones like her. I know it's hard for me as an adult sometimes to miss out, so I can't imagine being 7 and dealing with it! Any tips or ideas to help with this? 
×
×
  • Create New...