genetic tests

[CherylS]

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.

 

 

[CherylS]

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]

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]

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]

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]

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]

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