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Gene Test Results

hercules25

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hercules25 Apprentice
hercules25
Posted

I got my genetic test results today. I am positive for HLA-DQ2. My doctor called me today to say she is not saying for sure saying I have Celiac Disease but thinks its a possibility. I was wondering of some input and any other test to hep me with a diagnosis or not.

HLA-DQ2 - Positive

Red Blood Count 3.97 (L) (4.5-5.9)

ANA SCR (Positive)

SSA AB 143 (Positive)

Test taken April 21

Total Protein 2.6 (L) (6.1-7.9)

All Globulin levels Low (Albuim EP, A1,A2,G, and G)

Vitamin B6 43 (H) (2.1-21.7)

Saccharomyces Cerevisiae

AB (ASCA) (IGG) 28.5 (20.1-29.9 equivocal)

(IGA) 45.3 (>25 Positive)

Thanks for all your input.

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JoshB Apprentice
JoshB
Posted

So... none of that is really part of a celiac panel, and you should probably discus those results with your doc.

Your DQ2 type doesn't rule out celiac disease, but it certainly doesn't diagnose it. About 30% of Americans have your DQ type.

ravenwoodglass Mentor
ravenwoodglass
Posted

I got my genetic test results today. I am positive for HLA-DQ2. My doctor called me today to say she is not saying for sure saying I have Celiac Disease but thinks its a possibility. I was wondering of some input and any other test to hep me with a diagnosis or not.

HLA-DQ2 - Positive

Red Blood Count 3.97 (L) (4.5-5.9)

ANA SCR (Positive)

SSA AB 143 (Positive)

Test taken April 21

Total Protein 2.6 (L) (6.1-7.9)

All Globulin levels Low (Albuim EP, A1,A2,G, and G)

Vitamin B6 43 (H) (2.1-21.7)

Saccharomyces Cerevisiae

AB (ASCA) (IGG) 28.5 (20.1-29.9 equivocal)

(IGA) 45.3 (>25 Positive)

Thanks for all your input.

The two tests I bolded I think are celiac tests and those are both positive. However your doctor should also be doing a double scope on you, both endo and colonoscopy, and do ask that they be done at the same time.

You need to have Chrons ruled out along with some other issues.

Follow up with your doctor and when all celiac tests are finished do give the diet a good strict try.

Skylark Collaborator
Skylark
Posted

The two tests I bolded I think are celiac tests and those are both positive. However your doctor should also be doing a double scope on you, both endo and colonoscopy, and do ask that they be done at the same time.

You need to have Chrons ruled out along with some other issues.

Follow up with your doctor and when all celiac tests are finished do give the diet a good strict try.

No, the ASCA is anti-Saccharomyces cerevisiae (yeast). It's mostly a test for Crohn's disease. It can show up in celiac and colitis as well, but less commonly. It's not diagnostic for celiac at all.

There is no celiac panel in those labs so you need one if you suspect celiac. You would need anti-TTG IgA and either anti-endomysial (EMA) or anti-deamidated gliadin peptide (DGP) if it's available. You have to be eating a full-gluten diet for the tests to work. The genetic test is not even remotely diagnostic; 30% of the US population has DQ2.

The positive ANA and SSA are autoimmune antibodies. They don't automatically mean you're sick becasue they can show up in healthy people, but that particular combination can be a sign of lupus or Sjogren's syndrome. Important for you, ANA can also show up in Crohn's disease. ANA and SSA are not related to celiac disease at all, other than the tendency of autoimmune diseases to cluster.

I don't want to scare you, but with the ASCA and ANA results if you have a lot of GI trouble you really need to be firm with your doctor about getting Crohn's disease ruled out. As Ravenwood mentions, you need both a colonoscopy and an endoscopy, preferably from an experienced GI doctor.

By the way, none of this rules out gluten intolerance. Once your testing is done, there is no harm in seeing whether you feel better gluten-free.

hercules25 Apprentice
hercules25
Posted
  • Author

I guess I should of stated I have had 3 upper and lowers and my doctor says with all my bloodwork he cant diagnose me with Chrons. He says the ASCA test is not enough to diagnose me with Chrons and the Rhuem said I dont have Lupus or Sjordens he said I have Fibro. I was put on a Chrons med though way back which none of them have ever cleared up anything. I have had a small capsule as well. My 4 different gastros all say I dont have the typical signs of Chrons, like high white blood count, bloody stools, and so on but I dont always believe what they say. Basically everyone sees my positive blood work but no answers. I am going on year 14 of being sick with no answers.

Skylark Collaborator
Skylark
Posted

How incredibly frustrating. :( It's good that you don't seem to have Crohn's. ASCA can sometimes appear in celiac because of all the inflammation. The DQ2 means you *could* be celiac. I think I mentioned the celiac panel tests you would need in my post above. Have they done any biopsies when they scoped you? Was there anything that could point to early celiac like increased intra-epithelial lymphocytes?

Once you have the celiac tests done, there is no harm in trying the gluten-free diet on your own. Gluten intolerance can make people really sick, it can happen in DQ2 folks, and it doesn't show up on lab tests.

hercules25 Apprentice
hercules25
Posted
  • Author

I found this on this website about Celiac and ASCA IGA and IGG

https://www.celiac.com/articles/1163/1/Anti-Saccharomyces-Cerevisiae-Antibodies-Common-in-People-with-Celiac-Disease/Page1.html

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hercules25 Apprentice
hercules25
Posted
  • Author

Yes its frustrating and a life stopper. I have been gluten free (so I thought) for a bit. It seems to have taken away that feeling that I ate a basketball and every organ in my body is slammed up against my ribs but I still have an endless list of problems. I am afraid to start eating gluten again for the test. I ate gluten and 36 hours later I was doubled over in such pains and on the toilet for days. Now my stool is pale but firm. (I know, yuck!!) My primary and my gastro told me to stay gluten free which I am. I just posted that I saw here on this website it is common for ASCA positives in Celiac. I had a biopsy done from the bottom end and that is a huge reason they ruled out Chrons because he came back negative. I have had every Chrons test under the sun you can dream of and still they say no. I have been to a neuro and had 2 MRIS and no MS too.

hercules25 Apprentice
hercules25
Posted
  • Author

Skylark, How long do I need to be eating a full gluten diet for the test to work?? I have been off gluten for about 3 months minus the little mishaps here and there.

Skylark Collaborator
Skylark
Posted

Skylark, How long do I need to be eating a full gluten diet for the test to work?? I have been off gluten for about 3 months minus the little mishaps here and there.

Unfortunately, you need to be eating a full gluten diet for about three months before the testing to reliably get antibodies (if you're a person who would even have them in the first place). You've been gluten-free long enough that the test would be questionable if it came back negative.

If you get horribly sick from gluten it probably isn't worth getting celiac blood testing. My GP tells me the antibody tests aren't very good and he has discouraged me from doing a gluten challenge. It's reasonable to stick to the diet and see whether some of your other problems gradually resolve.

cassP Contributor
cassP
Posted

I got my genetic test results today. I am positive for HLA-DQ2. My doctor called me today to say she is not saying for sure saying I have Celiac Disease but thinks its a possibility. I was wondering of some input and any other test to hep me with a diagnosis or not.

HLA-DQ2 - Positive

Red Blood Count 3.97 (L) (4.5-5.9)

ANA SCR (Positive)

SSA AB 143 (Positive)

Test taken April 21

Total Protein 2.6 (L) (6.1-7.9)

All Globulin levels Low (Albuim EP, A1,A2,G, and G)

Vitamin B6 43 (H) (2.1-21.7)

Saccharomyces Cerevisiae

AB (ASCA) (IGG) 28.5 (20.1-29.9 equivocal)

(IGA) 45.3 (>25 Positive)

Thanks for all your input.

unless it's a celiac or thyroid panel, im no expert on labs... BUT.. your RBC count is below range- does that maybe suggest anemia??? Anemia is very common with gluten intolerance or Celiac.. hope your doc is on top of that.

in aggreement with everyone else- it doesnt look like you have a complete Celiac panel.

and you're DQ2 positive, but do u have 1 or 2??? having DQ2 doesnt mean you'll have celiac.. but it's possible, and i believe having a double DQ gene... whether 2 & 8, or nonclassic DQs like 5 or 9 can make u more vulnerable i think

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