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My Genetic Test...

Simona19

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Simona19 Collaborator
Simona19
Posted

Hi again!

Yesterday I wisited my doctor, and I was able to get a copy from my genetic test for the celiac disease.

Result:

HLA- DQ2 (DQA*05/DQB1*02) negative

HLA- DQ8 (DQA*03/DQB1*0302 negative

HLA- DQA1* 01

HLA- DQA1* 05

HLA- DQB1* 0301

HLA- DQB1* 0502

The test was done by Quest Diagnostics.

My small bowel endoscopy result showed the beginning of the celiac disease (Marsh1), and I tested positive for the milk and wheat (skin test).

Do I have celiac, or not? Are these tests playing game with me?

I also have many food allergies (nuts- anaphylactic sock, kiwi and honey - dificulty breathing + other milder), astma, cancer sores in mouth (since 5. year of age, but I didn't have any yet from the time I went on the gluten Gluten-Free diet), migraine (since I was teenager), kidney stone, very, very painful periods, (and they are always more then 28 days apart- 32days) and alevated hormones for hypothyroidism.

Doctor gave me prescription for another blood tests, ordered CT with contrast of the all abdomen and MRI of the head and sinusis with contrast ( I have cyst on the left side of my sinus). He wants to rule out cancer which could be making me sick because of the negative results on the genetic testing.

Any advice?

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ravenwoodglass Mentor
ravenwoodglass
Posted

There are many more genes associated with celiac than are usually tested for. If you are feeling better on the diet please do stick with it. It is very possible to have celiac without DQ2 or DQ8 but most doctors here are not up to date with that.

Simona19 Collaborator
Simona19
Posted
  • Author

There are many more genes associated with celiac than are usually tested for. If you are feeling better on the diet please do stick with it. It is very possible to have celiac without DQ2 or DQ8 but most doctors here are not up to date with that.

I do feel better, no bloathing or diarrhea, but I still have a one unresolved issue. I'm always fainting. My body is colapsing, and I'm always very dizzy. I don't see nothing for long time when I stand up from squading. I was at the Emergency room on Saturday because it was so bad that I was afraid fot my life. Emergency blood panel was ok, and also the ECG didn't show any abnormalities. They send me home,(still dizzy) and advice me to visit my regular doctor for some other tests.

I don't have hypoglycemia, and my blood pressure is always normal.

I forgot to mention that my hair are falling out like craizy too.

ravenwoodglass Mentor
ravenwoodglass
Posted

I do feel better, no bloathing or diarrhea, but I still have a one unresolved issue. I'm always fainting. My body is colapsing, and I'm always very dizzy. I don't see nothing for long time when I stand up from squading. I was at the Emergency room on Saturday because it was so bad that I was afraid fot my life. Emergency blood panel was ok, and also the ECG didn't show any abnormalities. They send me home,(still dizzy) and advice me to visit my regular doctor for some other tests.

I don't have hypoglycemia, and my blood pressure is always normal.

I forgot to mention that my hair are falling out like craizy too.

You may have orthostatic (I think that's the right word) low blood pressure, your doctor can check for this by taking your blood pressure while your sitting and then again when you stand. This can make you really dizzy when you first stand up. I had it for years along with really low blood pressure. I had to stand very slowly from a sit or a squat. It resolved after I had been gluten-free for a while. I am not saying this is your issue just something to look into. Also make sure that the doctor has throughly checked your ears. Fluid in the ears can make people dizzy and there are specific head movements you can learn to resolve that if that is the problem. Also are you on any meds? Being dizzy can be a side effect of some.

Having your hair fall out when your sick is common, it can also come from autoimmune reactions with the celiac. Make sure everything you use on your hair is safe gluten wise. It can take about 3 months for you to see noticeable regrowth but it should regrow. My hair falls out when glutened or soyed and I use a vitamin for hair and nails by Country Life called 'Hair and Nails' and also take some extra biotin when that happens.

I am glad your doctor is staying on top of things.

I hope you are feeling better soon.

Lisa Mentor
Lisa
Posted

. It is very possible to have celiac without DQ2 or DQ8 but most doctors here are not up to date with that.

Raven, do you have the current research on this?

ravenwoodglass Mentor
ravenwoodglass
Posted

Raven, do you have the current research on this?

There was a post or two quite recently but I neglected to bookmark them. I will see if I can find them and if I can I will post.

Simona19 Collaborator
Simona19
Posted
  • Author

You may have orthostatic (I think that's the right word) low blood pressure, your doctor can check for this by taking your blood pressure while your sitting and then again when you stand. This can make you really dizzy when you first stand up. I had it for years along with really low blood pressure. I had to stand very slowly from a sit or a squat. It resolved after I had been gluten-free for a while. I am not saying this is your issue just something to look into. Also make sure that the doctor has throughly checked your ears. Fluid in the ears can make people dizzy and there are specific head movements you can learn to resolve that if that is the problem. Also are you on any meds? Being dizzy can be a side effect of some.

Having your hair fall out when your sick is common, it can also come from autoimmune reactions with the celiac. Make sure everything you use on your hair is safe gluten wise. It can take about 3 months for you to see noticeable regrowth but it should regrow. My hair falls out when glutened or soyed and I use a vitamin for hair and nails by Country Life called 'Hair and Nails' and also take some extra biotin when that happens.

I am glad your doctor is staying on top of things.

I hope you are feeling better soon.

Thank you so much for the reply. I don't have nothing wrong with my ears neither. I had that twice last year after I used a nose spray to stop my seasonal allergy.

I din't check my shampoo yet. My hair are falling out three years now and nothing is regrowing. It might be the shampoo. I was eating vitamins like craizy, but nothing helped.

And the low blood pressure? I think it might be "the thing" what makes my life miserable. I hope that is the it and not some cancer. I will see after tests.

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Skylark Collaborator
Skylark
Posted

Raven, do you have the current research on this?

Not Raven, but I have the link to the big population study Prometheus did. They did find some non-DQ2 and DQ8 celiacs in their 10,000 person cohort.

Open Original Shared Link

Simona, I agree with everyone here. The canker sores, hypothyroidism and Marsh I biopsy are all consistent with celiac, especially since the canker sores went away and you're feeling better gluten-free. Obviously you want to continue to work with your doctor to rule outer problems.

nora-n Rookie
nora-n
Posted

You have

HLA- DQA1* 01

HLA- DQA1* 05

HLA- DQB1* 0301

HLA- DQB1* 0502

which hang together as:

HLA- DQB1* 0502 and HLA- DQA1* 01 which is DQ5

HLA- DQB1* 0301 and HLA- DQA1* 05 which is DQ7

Congratualtions, you officilly have half a celiac gene, half DQ2, the alpha chain of DQ7.

The second one here with a confirmed half gene that I know about.

The first one (half full) had a similar constellation, and marsh 1 as well, and lots of symptoms so she got the celiac diagnosis baed on small visible damage in video caspule enmdoscopy.

There might have been others here which have escaped me.

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