Celiac Gene Pairs

[stellagogo]

so i finally saved up the money to have a whole buncha labwork done, including the celiac panel that was ordered for me last year. turns out celiac gene pairs are present, but looks like antibodies are within reference range. i've been gluten free for almost a year now (with a few periods of not 100% strict because i havent been sure). if the gene pairs are present, what are the chances that i really do have celiac? i've been strictly gluten-free for the past few weeks now, and i plan to continue because in some ways i feel a LOT better. i'm just really curious about how this all works.

DQ alpha 1 02:01,05

DQ beta 1 02:02,03:01

i dont know how to interpret genetic testing.

[stellagogo]

in addition, my results read:

iga - 212 (ref range 61-356)

dq alpha 1 - 02:01,05

dq beta 1 - 02:02,03:01

i'm sorry i don't know anything about genetic testing or the interpretation thereof.

[pain*in*my*gut]

in addition, my results read:

iga - 212 (ref range 61-356)

dq alpha 1 - 02:01,05

dq beta 1 - 02:02,03:01

i'm sorry i don't know anything about genetic testing or the interpretation thereof.

The only antibody tests that I see are the total IgA. Is that all they did as far as antibody testing for Celiac? You should have had at least one of the following: tTG, DGP, EMA, anti-gliadin antibodies. Were any of those done? Because genes alone will not give you a dx of Celiac without any other testing.

[stellagogo]

The only antibody tests that I see are the total IgA. Is that all they did as far as antibody testing for Celiac? You should have had at least one of the following: tTG, DGP, EMA, anti-gliadin antibodies. Were any of those done? Because genes alone will not give you a dx of Celiac without any other testing.

tissue transglutaminase antibody IgA was also done, <1.2 (ref range <4.0), so i guess that's fine.

but i've been gluten free for a long time because i couldnt afford to have the tests done till now. i'm just really curious about how to interpret the genetic testing...i know i can't get a definitive dx at this point, but i'd like to know what the chances are that my self-dx is right.

[pain*in*my*gut]

tissue transglutaminase antibody IgA was also done, <1.2 (ref range <4.0), so i guess that's fine.

but i've been gluten free for a long time because i couldnt afford to have the tests done till now. i'm just really curious about how to interpret the genetic testing...i know i can't get a definitive dx at this point, but i'd like to know what the chances are that my self-dx is right.

I would say if you are feeling a lot better, you have your answer.

From what I have read about Celiac genes is that 30% of the normal population has them, but not all of those people will get Celiac. Maybe somebody who has had more extensive genetic testing can help you with your odds.

[stellagogo]

so only 30% have the predisposing genes? and i'm feeling better? and i have hashimoto's? i guess it's just hard to know how seriously to take this without a clear definite dx. my family thinks i'm crazy for talking about the need for separate pots/pans/sponges/etc...for all my fears of cross contamination...they think i'm losing my mind. i'm frustrated.

[pain*in*my*gut]

so only 30% have the predisposing genes? and i'm feeling better? and i have hashimoto's? i guess it's just hard to know how seriously to take this without a clear definite dx. my family thinks i'm crazy for talking about the need for separate pots/pans/sponges/etc...for all my fears of cross contamination...they think i'm losing my mind. i'm frustrated.

Do you think that you would be able to do a gluten challenge and go through testing again? There is a newer blood test, DGP (deamidated gliadin peptide) ABS that is supposedly equal to or better than the tTG ABS for screening for Celiac. My DGP was super high, but my tTG was negative. I have the genes and all the symptoms, so it's likely I have Celiac. I am going for a biopsy in 2 weeks, and have been doing a gluten challenge (gag). You have to be on gluten for many weeks to months for the testing to be accurate.

You can also have Celiac and have negative blood work, but a positive biopsy. And vice versa. So, the question is, how badly do you want to know? Can you assume you have Celiac based on what you know now, or do you need it to be official? I totally understand the need for a confirmation, especially when it comes to convincing the family (one of the main reasons I am going for a biopsy)! It's a tough call, but it's totally up to you. This is something you are going to have to live with for the rest of your life, so you need to do what is best for you.

[JoshB]

Your formatting is a bit odd, so I'm not sure I'm reading your results right. But it looks like you're DQ2.5 / DQ6.

DQ2.5 (a subtype of DQ2) is the risk phenotype for celiacs. As a heterozygous DQ2.5 your absolute odds are around 10~15%. DQ 2.5 carriers make up 85% of celiac cases in the US, the remainder are DQ7.5 and DQ8.1. Hashimoto's is also a significant risk factor for celiac disease, with about 10% of hashimoto afflicted also celiac afflicted.

Rough odds --which are almost certainly pretty far off since I don't know how independent the genetic and hashimoto's hazards are-- (85%*90%) = ~76% chance that you do not have celiac disease. Which leaves a 24% chance that you do. That's really pretty high. The only way you could be worse off is to have doubled up on DQ2.5.

Unfortunately your antibody results are worthless as you did them after going gluten free. Very... strange that the doc would order them in that case.

So 24% not factoring your symptoms or apparent increased well being on gluten free. Factoring those things in... hard to say. I would think it's pretty likely that you have full blown celiac disease.

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[pain*in*my*gut]

Your formatting is a bit odd, so I'm not sure I'm reading your results right. But it looks like you're DQ2.5 / DQ6.

DQ2.5 (a subtype of DQ2) is the risk phenotype for celiacs. As a heterozygous DQ2.5 your absolute odds are around 10~15%. DQ 2.5 carriers make up 85% of celiac cases in the US, the remainder are DQ7.5 and DQ8.1. Hashimoto's is also a significant risk factor for celiac disease, with about 10% of hashimoto afflicted also celiac afflicted.

Rough odds --which are almost certainly pretty far off since I don't know how independent the genetic and hashimoto's hazards are-- (85%*90%) = ~76% chance that you do not have celiac disease. Which leaves a 24% chance that you do. That's really pretty high. The only way you could be worse off is to have doubled up on DQ2.5.

Unfortunately your antibody results are worthless as you did them after going gluten free. Very... strange that the doc would order them in that case.

So 24% not factoring your symptoms or apparent increased well being on gluten free. Factoring those things in... hard to say. I would think it's pretty likely that you have full blown celiac disease.

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Josh, good catch on the gluten free effect on the antibody testing. When I read his post it said "last year" so I assumed he had the testing done last year before he went gluten-free. But if he meant the the tests were ordered last year and he just now got the $$ for the testing, then heck yeah...those tests are useless. Maybe he will come back and clarify....

[stellagogo]

your answers are both very helpful. i feel dumb for not knowing much about how to read the genetic results.

i thought in my question i had mentioned that the antibody testing at this point is useless because i've been mostly gluten free...but going back i see that i didn't make that clear. the tests were ordered a long time ago, before i really went gluten free, but i was only just able to have them done.

i was mostly curious about the probability of celiac as based on the genetic results. josh, you helped a lot.

i wish this were more easily diagnosed because i'm really not willing to do the gluten trial at this point. seems i swell and gain a lot of weight and feel generally miserable when i'm eating gluten. but it would be nice to have an answer so i know just how careful i really need to be...or if it's just an intolerance deal. but you're right, pain, i have to do what is right for ME...i just never knew that... a crumb...how...serious and complicated celiac really makes life. and my family sure thinks i'm nuts.

thanks,

stella

[JoshB]

No, no. You're not stupid. Genetics results are confusing. I don't know anything special about it. I just had the same questions myself back in the day and Google had answers.

And yeah... a proper diagnosis would be nice. Much easier to tell family "Look. I have this alright? So stop complaining that I didn't eat your stuffing" than to tell them "Well, I think that maybe wheat isn't good for me so I'm not real sure I should eat this."

If your symptoms are that marked, though, especially considering your genetic susceptibility and the co-morbidity with Hashimoto's, I think it's pretty likely you have it.

[stellagogo]

No, no. You're not stupid. Genetics results are confusing. I don't know anything special about it. I just had the same questions myself back in the day and Google had answers.

And yeah... a proper diagnosis would be nice. Much easier to tell family "Look. I have this alright? So stop complaining that I didn't eat your stuffing" than to tell them "Well, I think that maybe wheat isn't good for me so I'm not real sure I should eat this."

If your symptoms are that marked, though, especially considering your genetic susceptibility and the co-morbidity with Hashimoto's, I think it's pretty likely you have it.

thank you SO much. it seems every day gets a little better since i've been strictly gluten-free. mentally things are shifting a lot...it's really weird. for awhile i was about 95%, still eating tortilla chips that shared frier oil, etc...hoping for just an intolerance rather than celiac. but intuitively i'm feeling that it is the real thing. and i know just how hard it's going to be to convince others. visiting my family last time was hard...they knew i was gluten-free, but were still cooking chicken on a grill, using beer or malt vinegar as marinades, putting "my" gluten-free crackers on the same plate as regular ones...rolling their eyes when i'd get upset. i'm working really hard in my recovery from 16 years of anorexia, and food has always been an issue and they still think i'm just delusional. sometimes i do, too.

plus i'm more of a "gainer"...retaining water, swelling up, constipation...than the "typical" celiac profile. but in just a week of gluten-free i feel like my face looks like me again. i dont think it's even anything other people can notice, but i just feel all swollen when i have grains. maybe it's grains, not just gluten. i cut out grains when i got strict about eliminating gluten as close to 100% as possible. this is all so complicated.

anyway, another question to throw out there...is it normal to be extremely fatigued when first going gluten-free? according to my recent labs, my thyroid levels are still a little low, but i feel especially exhausted lately. just dead tired. when i get glutened i kinda get an energy rush and feel really "happy"...is that the opiate-like effect or am i losing my mind?

sorry so many questions...i should probably, and may end up, splitting this into a few different posts since i'm all over the place.

thanks again for your input.

[Bubba's Mom]

If I get glutened I get hyper and happy at first, then I sort of crash and I'm depressed. My hubby noticed it before I did. If I start talking fast and sound real energenic he asks me what I've had to eat.

[stellagogo]

If I get glutened I get hyper and happy at first, then I sort of crash and I'm depressed. My hubby noticed it before I did. If I start talking fast and sound real energenic he asks me what I've had to eat.

exactly!

[beebs]

your answers are both very helpful. i feel dumb for not knowing much about how to read the genetic results.

i thought in my question i had mentioned that the antibody testing at this point is useless because i've been mostly gluten free...but going back i see that i didn't make that clear. the tests were ordered a long time ago, before i really went gluten free, but i was only just able to have them done.

i was mostly curious about the probability of celiac as based on the genetic results. josh, you helped a lot.

i wish this were more easily diagnosed because i'm really not willing to do the gluten trial at this point. seems i swell and gain a lot of weight and feel generally miserable when i'm eating gluten. but it would be nice to have an answer so i know just how careful i really need to be...or if it's just an intolerance deal. but you're right, pain, i have to do what is right for ME...i just never knew that... a crumb...how...serious and complicated celiac really makes life. and my family sure thinks i'm nuts.

thanks,

stella

Don't feel dumb - it is all higgle piggle to me. I have no idea how Josh got DQ2.5 out of what you wrote!! Its so confusing.

I am in the very same boat as you. Have just found out that I am DQ8 positive but have been gluten free since Jan and have no official diag. I have some kind of connective tissue disease (which means more chance of other autoimmune diseases) I really want a diag - I hate not really knowing...I mean - hey - there is always a chance it may not be gluten right But at the end of the day - I just can't do a gluten challenge. I hate being in limbo!! And I hate the whole - "I think I'm celiac so I can't eat gluten" - It sounds so rubbish. I have started saying "I am celiac so I can't eat gluten" but I always feel I'm telling a bit of a fib!!

As to the fatigue -I'm not really sure. I felt instantly better when I went off gluten. Although now that I'm having a flare with the other autoimmune stuff I am so badly fatigue I can't hardly function...sorry- no help!

[stellagogo]

Don't feel dumb - it is all higgle piggle to me. I have no idea how Josh got DQ2.5 out of what you wrote!! Its so confusing.

I am in the very same boat as you. Have just found out that I am DQ8 positive but have been gluten free since Jan and have no official diag. I have some kind of connective tissue disease (which means more chance of other autoimmune diseases) I really want a diag - I hate not really knowing...I mean - hey - there is always a chance it may not be gluten right But at the end of the day - I just can't do a gluten challenge. I hate being in limbo!! And I hate the whole - "I think I'm celiac so I can't eat gluten" - It sounds so rubbish. I have started saying "I am celiac so I can't eat gluten" but I always feel I'm telling a bit of a fib!!

As to the fatigue -I'm not really sure. I felt instantly better when I went off gluten. Although now that I'm having a flare with the other autoimmune stuff I am so badly fatigue I can't hardly function...sorry- no help!

omg thanks! you DID help. i'm so right there with you in limboland. it really helped seeing my dr last week because he made me feel less like a "fraud" or hypochondriac for thinking it's highly likely that i have celiac. i just have this intuitive feeling that gluten really may be the issue. funny i made a call today for allergen info and felt like a fake saying i have celiac. but i think i'm about as close to sure as any lab test can prove. it's still gonna be hard to toss all the gluten stuff i have stashed in my freezer for "when i get over this phase of crazy-making". i really think this is it. i am feeling better every day...i dont know the last time i could say that...but what's weird is that i've had a persistent bellyache/bloat for 3 days and i never had anything like that while eating gluten (except when i'd eat it after a period of not eating it for awhile). and i'm EXHAUSTED too...i fall into bed like i've been hit by a mack truck. my dr says to wait on upping the thyroid meds till i've been gluten-free for long enough to let my adrenals heal....

feel better!

[beebs]

omg thanks! you DID help. i'm so right there with you in limboland. it really helped seeing my dr last week because he made me feel less like a "fraud" or hypochondriac for thinking it's highly likely that i have celiac. i just have this intuitive feeling that gluten really may be the issue. funny i made a call today for allergen info and felt like a fake saying i have celiac. but i think i'm about as close to sure as any lab test can prove. it's still gonna be hard to toss all the gluten stuff i have stashed in my freezer for "when i get over this phase of crazy-making". i really think this is it. i am feeling better every day...i dont know the last time i could say that...but what's weird is that i've had a persistent bellyache/bloat for 3 days and i never had anything like that while eating gluten (except when i'd eat it after a period of not eating it for awhile). and i'm EXHAUSTED too...i fall into bed like i've been hit by a mack truck. my dr says to wait on upping the thyroid meds till i've been gluten-free for long enough to let my adrenals heal....

feel better!

Yeah - my Doctor is 100% positive that its celiac - we just don't have the tests to back it up...and I am still not satisfied! I think its also cause I have a connective tissue disease but they can't figure out what it is either and that has been going on for 5 years so I will probably get a diag of undifferentiated connective tissue disease - which means - "we know you have something, we just don't know what" and I just think - why I can't I be one of those people who have a test and it comes back saying something...anything!! Arrgghh!

Re the bloating - don't suppose you have glutened yourself on accident? My whole family has been gluten-free since January - and I made some mistakes re gluten in that time. Are you on any medication? Could they have gluten in them etc? And check your lip balm as well! Who knew there were all these things to look out for

[pricklypear1971]

thank you SO much. it seems every day gets a little better since i've been strictly gluten-free. mentally things are shifting a lot...it's really weird. for awhile i was about 95%, still eating tortilla chips that shared frier oil, etc...hoping for just an intolerance rather than celiac. but intuitively i'm feeling that it is the real thing. and i know just how hard it's going to be to convince others. visiting my family last time was hard...they knew i was gluten-free, but were still cooking chicken on a grill, using beer or malt vinegar as marinades, putting "my" gluten-free crackers on the same plate as regular ones...rolling their eyes when i'd get upset. i'm working really hard in my recovery from 16 years of anorexia, and food has always been an issue and they still think i'm just delusional. sometimes i do, too.

plus i'm more of a "gainer"...retaining water, swelling up, constipation...than the "typical" celiac profile. but in just a week of gluten-free i feel like my face looks like me again. i dont think it's even anything other people can notice, but i just feel all swollen when i have grains. maybe it's grains, not just gluten. i cut out grains when i got strict about eliminating gluten as close to 100% as possible. this is all so complicated.

anyway, another question to throw out there...is it normal to be extremely fatigued when first going gluten-free? according to my recent labs, my thyroid levels are still a little low, but i feel especially exhausted lately. just dead tired. when i get glutened i kinda get an energy rush and feel really "happy"...is that the opiate-like effect or am i losing my mind?

sorry so many questions...i should probably, and may end up, splitting this into a few different posts since i'm all over the place.

thanks again for your input.

I am Hashis, and probably Celiac.

Hashis treatment (synthetic and natural thyroid) fixed a lot of my problems. Temporarily.

Five years later I hit rock bottom and got this nasty little rash.... My NP suggested a gluten fasting trial...SHE is Celiac and doubted I was Celiac! Well, the trial worked - got rid of the rest of my "Hashis symptoms", except the rash.

My point is... It's not all one or the other. If you have the genes for Celiac, you either have it or probably are intolerant to some degree of gluten; your thyroid antibodies and symptoms MAY or MAY NOT disappear if you stay off gluten. Most people, if I believe what is written by those who experience it, say their thyroid symptoms reduce if not disappear along with other odd things they thought were "normal".

Celiac and Hashis symptoms have a lot in common and overlap; and the trend is that Celiac causes Hashis. Untreated Celiac or gluten intolerance generally contributes to worsening Hashis. Bloodwork results is NOT indicative of how you feel with Hashis or hypothyroid. My bloodwork was just a bit off and I felt horrible (gluten wasn't helping, I'm sure).

Don't doubt your medical diagnosis (self or otherwise) due to your appearance not fitting the Celiac mold. I'm a "puffer", too and have neurological symptoms from gluten. And yeah, that first week was BAD... I was a raging machine.