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Gene Pairs Confused ?

watata

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watata Apprentice
watata
Posted

Can Anyone interpret gene pairs? I was told I was positive for celiac gene pairs. Results are as follows. Was curious how to read the results exactly.

Celiac gene pairs present? yes

DQ alpha 1 : 05:01,05

DQ beta 1 : 02:01,02:01

"Comments: These genes are permissive for Celiac disease. (The absence of HLA Celiac "permissive" genes would make the presence of Celiac disease unlikely.) However, these genes can also be present in the normal population. Method: Low to Medium or High Resolution Molecular Testing "

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Skylark Collaborator
Skylark
Posted

DQ alpha 1 is missing something, I think. The first gene is 05:01 but half the designation is missing for the second. Is that exactly what's on the lab slip or did you miss typing two numbers at the end?

DQ beta 1 is DQ2*0201 for both copies. DQA1*0501/DQB1*0201 is DQ2.5.

You definitely have at least one copy of DQ2.5, plus a second DQ2 that's probably also DQ2.5 but check your lab slip again for the last two numbers on alpha. Double DQ2.5 is a very strong celiac result, and even if you're DQ2.5 and DQ2.? it's still a lot of celiac genes. That plus your positive TTG and biopsy leaves pretty much no doubt.

watata Apprentice
watata
Posted
  • Author

DQ alpha 1 is missing something, I think. The first gene is 05:01 but half the designation is missing for the second. Is that exactly what's on the lab slip or did you miss typing two numbers at the end?

DQ beta 1 is DQ2*0201 for both copies. DQA1*0501/DQB1*0201 is DQ2.5.

You definitely have at least one copy of DQ2.5, plus a second DQ2 that's probably also DQ2.5 but check your lab slip again for the last two numbers on alpha. Double DQ2.5 is a very strong celiac result, and even if you're DQ2.5 and DQ2.? it's still a lot of celiac genes. That plus your positive TTG and biopsy leaves pretty much no doubt.

That is exactly what it says. It was does done at the Mayo clinic. Don't know why there is no number after the second 5 . The doc says they can't be 100 % sure I have celiac. they say I can do a gluten challenge in a year and another biopsy. Uh No . I feel so much better gluten free why would I want to torture myself. No test is 100 % . What proof do they need? I guess because my ttg wasn't skyrocketing high? or my biopsy (blunted villi) was only suggestive of celiac/sprue per the pathology report? I give up. Even my primary and my ob/gyn think its obvious so why doesn't my gi? I ask him and he can't give me an answer. He doesn't know much about celiac it seems. The dietitian knew way more.

nora-n Rookie
nora-n
Posted

blunted villi, slightly positive ttg test, two DQ2,5? (go over to en.wikipedia.org and check out the charts on the alpha and beta chains,and this does look like two DQ2,5 no matter what is missing on the one 05* alpha chain, since one 05* alpha chain alone is enough for celiac even without the 0201 or 0202 beta chain)

Mayo are known to be very conservative about testing, and in my opinion these tests are proof enough together with positive response on the gluten free diet.

Lots of other patients got a diagnosis with just increased IEL and symptoms.

Blunted villi IS usually celiac.

(except for tropical sprue, or some cases of milk allergy in small children, and/or some other rare issues)

Some pathologists demand totally missing or flattened villi for celiac, but that is outdated.

What was your blood test like?

Skylark Collaborator
Skylark
Posted

That is exactly what it says. It was does done at the Mayo clinic. Don't know why there is no number after the second 5 . The doc says they can't be 100 % sure I have celiac. they say I can do a gluten challenge in a year and another biopsy. Uh No . I feel so much better gluten free why would I want to torture myself. No test is 100 % . What proof do they need? I guess because my ttg wasn't skyrocketing high? or my biopsy (blunted villi) was only suggestive of celiac/sprue per the pathology report? I give up. Even my primary and my ob/gyn think its obvious so why doesn't my gi? I ask him and he can't give me an answer. He doesn't know much about celiac it seems. The dietitian knew way more.

If that's all the lab slip said I agree with Nora that you're probably double DQ2.5. It's no wonder you get so horribly sick from wheat.

The big question is what proof YOU need. Mayo wouldn't diagnose celiac on only villous blunting - that's what's going on and why they're waffling. The "experts" want to see both blood and total villous atrophy to diagnose celiac. Anything less and they say "maybe" like you're seeing. Thing is, celiac is progressive and your GI seems unaware of it. He is not up on the recent literature, which isn't terribly surprising since HMO doctors are so horribly overworked these days. You might suggest he check out Marku Makki's prospective studies on TTG+ people and the recent metabolomic study on blood+/biopsy- people. They show that people with positive bloodwork have celiac-like metabolism and most eventually develop villous atrophy. With your genetics, TTG, and some degree of villous damage it's probably only a matter of time eating wheat before you get total villous atrophy and even Mayo diagnoses you. Here's the thing - even if you are a person who would never get a worse biopsy than villous blunting, who cares??? Gluten makes you sick, and with the TTG and DQ2.5 you're risking other autoimmunity and neuro damage eating it.

watata Apprentice
watata
Posted
  • Author

Blood test said weak positive in comments. Test: IgA,Tissue Transglutaminase Ab, S right at 4 (less than 4 normal range per reference on sheet) Now 6 weeks later redone at 1.8 normal range. IgG,Tissue Transglutaminase Ab,S 6.3 (less than 6 normal range) now 3.1 6 weeks gluten free. They just did TPO antibodies and 21 Hydroxylase AB and they are in normal range as well . They tested them because I just had surgery and went into my second "adrenal crisis" Cortisol was 0.3 ACTH was 2 (3 days post op). Had an adrenal crisis a little over 15 months ago 3 months post op level was 0.8 ACTH was normal . Also have hypothyroidism and level has been all over the place so they were checking for hashimotos. Right now on synthroid 88mcg with an extra half pill on monday and friday. will up to 100 mg in 9 weeks. Could the TPO antibodies and 21 Hydroxylase Antibodies be normal due to being gluten free for 6 weeks as well? I am just so confused by all this and am so weak and miserable. Although my gi symptoms have improved with the gluten-free diet, the rest has not. Although they did throw me into surgical menopause and are still adjusting hormones as well. I'm complicated to put things simply LOL! Thanks for your support.

Let me add I not eaten in almost 3 days when the blood work was done. ( I don't know if that affects the test or not)

Skylark Collaborator
Skylark
Posted

There are people on the board who have had TPO fall after they went gluten-free. Inflammatory hormones produced by your intestine from gluten intolerance inflame your thyroid and make autoimmunity worse.

If everything fell from borderline to normal off gluten that's more evidence for some degree of celiac autoimmunity. Give it a little more time with the gluten-free diet. Now that you are starting to heal your absorption will improve. Also having your hormones "off" can certainly make you miserable! Are your B12 and D levels OK? Low on either of those will make you tired.

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watata Apprentice
watata
Posted
  • Author

There are people on the board who have had TPO fall after they went gluten-free. Inflammatory hormones produced by your intestine from gluten intolerance inflame your thyroid and make autoimmunity worse.

If everything fell from borderline to normal off gluten that's more evidence for some degree of celiac autoimmunity. Give it a little more time with the gluten-free diet. Now that you are starting to heal your absorption will improve. Also having your hormones "off" can certainly make you miserable! Are your B12 and D levels OK? Low on either of those will make you tired.

My D and B 12 are ok now. Back in March my D was 13. They started me on 50,000 units weekly. It was still only 28 in July so I am still on 50,000 now every 5 days. Now it is 38. B 12 is good. I am tired, but I don't sleep at all. I can't even sleep with ambient. It's annoying.

nora-n Rookie
nora-n
Posted

I would say the antibody numbers going down after going gluten-free proves you are celiac too.

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