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Esophagitis And Lower Gi- Help Interpreting Genetic Results!

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Hi,

 

I'm hoping someone can help me interpret my genetic tests etc from Enterolab. I am skeptical of the IGA testing as per other posts I've read on here, but I've gotten to the point where I've medically ruled out just about everything else, so I'm willing to go the long road of an experimental diet to see what happens.

 

Basically, I've had bacterial overgrowth on and off, acid reflux, mix of C and D on and off for years without any apparent cause. Since spring, despite being on super high doses of PPis, I have persistent chest pain and nausea etc... I've had two blood tests and biopsies for celiac over the last four years, all negative. In October I had tests that showed low esophageal motility and esophagitis. A barium swallow a month later showed normal motility, but the chest pain and esophagitis continues. Medicine's not helping. Also, I have really low levels of vitamin D. However, my doctors can't seem to prove that the esophagitis is coming from acid... it remains a mystery, and I'm not sure what to do next...

 

I know I have some susceptibility to autoimmune stuff because I have Hashimoto Disease (hypothyroidism) which was discovered last Christmas over the course of testing for various GI problems. That's under control more or less now, and so that shouldn't be affecting any of the GI stuff which is, if anything, worse than before treatment.

 

So, anyway, other than all that, I'm an athletic 29 year old female.

 

Here's my testing results- I'm hoping someone can tell me the liklihood of gluten sensitivity (and whether I should also try the no egg and casein thing...)

 

 

 

 

Gluten/Antigenic Food Sensitivity Stool Panel
Fecal Anti-gliadin IgA      69 Units   (Normal Range is less than 10 Units)

Fecal Anti-casein (cow’s milk) IgA      19 Units   (Normal Range is less than 10 Units)

Fecal Anti-ovalbumin (chicken egg) IgA      43 Units   (Normal Range is less than 10 Units)

Fecal Anti-soy IgA      10 Units   (Normal Range is less than 10 Units)

Gluten Sensitivity Gene Test
HLA-DQB1 Molecular analysis, Allele 1      0202   

HLA-DQB1 Molecular analysis, Allele 2      0303   

Serologic equivalent: HLA-DQ   2,3  (Subtype 2,9)

 

 

 

Thank you so much! I'm honestly getting really desperate... so much time and money and discomfort with no diagnoses...

 

GC

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Hi,

 

I'm hoping someone can help me interpret my genetic tests etc from Enterolab. I am skeptical of the IGA testing as per other posts I've read on here, but I've gotten to the point where I've medically ruled out just about everything else, so I'm willing to go the long road of an experimental diet to see what happens.

 

Basically, I've had bacterial overgrowth on and off, acid reflux, mix of C and D on and off for years without any apparent cause. Since spring, despite being on super high doses of PPis, I have persistent chest pain and nausea etc... I've had two blood tests and biopsies for celiac over the last four years, all negative. In October I had tests that showed low esophageal motility and esophagitis. A barium swallow a month later showed normal motility, but the chest pain and esophagitis continues. Medicine's not helping. Also, I have really low levels of vitamin D. However, my doctors can't seem to prove that the esophagitis is coming from acid... it remains a mystery, and I'm not sure what to do next...

 

I know I have some susceptibility to autoimmune stuff because I have Hashimoto Disease (hypothyroidism) which was discovered last Christmas over the course of testing for various GI problems. That's under control more or less now, and so that shouldn't be affecting any of the GI stuff which is, if anything, worse than before treatment.

 

So, anyway, other than all that, I'm an athletic 29 year old female.

 

Here's my testing results- I'm hoping someone can tell me the liklihood of gluten sensitivity (and whether I should also try the no egg and casein thing...)

 

 

 

 

Gluten/Antigenic Food Sensitivity Stool Panel

Fecal Anti-gliadin IgA      69 Units   (Normal Range is less than 10 Units)

Fecal Anti-casein (cow’s milk) IgA      19 Units   (Normal Range is less than 10 Units)

Fecal Anti-ovalbumin (chicken egg) IgA      43 Units   (Normal Range is less than 10 Units)

Fecal Anti-soy IgA      10 Units   (Normal Range is less than 10 Units)

Gluten Sensitivity Gene Test

HLA-DQB1 Molecular analysis, Allele 1      0202   

HLA-DQB1 Molecular analysis, Allele 2      0303   

Serologic equivalent: HLA-DQ   2,3  (Subtype 2,9)

 

 

 

Thank you so much! I'm honestly getting really desperate... so much time and money and discomfort with no diagnoses...

 

GC

I just had my genetic testing done, and it seems you are missing the DQA1 portion of your results.  The DQB1 0202 can be a problem if it is linked to the right DQA1 allele.  Basically you have these alleles on Chromosome 6 and the B and A combine to form various combinations.  These combinations will determine if you have the potential to develop Celiac, it is not set in stone and many people have the genetics and never develop the disease.  I have DQB1 0202 and DQA1 0201 which form DQ2.2.  The most common genetic combination is HLA-DQ2 ( a combination of DQA1*05 and DQB1*02) or HLA-DQ8 ( a combination of DQA1*03 and DQB1*0302).  I was considered not to have celiac based on the genetics, however when I dug deeper, 5% of Celiacs have my genetic combination.

 

I am not sure about the rest of your results, but I had severe reflux and constipation, I had to live on laxatives to go to the bathroom.  All that went away when I went gluten free.  I also have extremely low vitamin D, and am taking a supplement for that.  I would definitely talk to your doctor, and if he/she still does not think it is Celiac, you can always try an elimination diet and see how you feel.  I have not been diagnosed officially because I went gluten free before it could be confirmed.  I could not do a gluten challenge, I was practically disabled from pain and I need to work.  I was a runner before all this, and it is frustrating, but I am finally feeling like the younger me after 4 months of being gluten free.  Good luck!

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I just had my genetic testing done, and it seems you are missing the DQA1 portion of your results.  The DQB1 0202 can be a problem if it is linked to the right DQA1 allele.  Basically you have these alleles on Chromosome 6 and the B and A combine to form various combinations.  These combinations will determine if you have the potential to develop Celiac, it is not set in stone and many people have the genetics and never develop the disease.  I have DQB1 0202 and DQA1 0201 which form DQ2.2.  The most common genetic combination is HLA-DQ2 ( a combination of DQA1*05 and DQB1*02) or HLA-DQ8 ( a combination of DQA1*03 and DQB1*0302).  I was considered not to have celiac based on the genetics, however when I dug deeper, 5% of Celiacs have my genetic combination.

 

I am not sure about the rest of your results, but I had severe reflux and constipation, I had to live on laxatives to go to the bathroom.  All that went away when I went gluten free.  I also have extremely low vitamin D, and am taking a supplement for that.  I would definitely talk to your doctor, and if he/she still does not think it is Celiac, you can always try an elimination diet and see how you feel.  I have not been diagnosed officially because I went gluten free before it could be confirmed.  I could not do a gluten challenge, I was practically disabled from pain and I need to work.  I was a runner before all this, and it is frustrating, but I am finally feeling like the younger me after 4 months of being gluten free.  Good luck!

Hi scrcdawn,

 

Thank you for the reply! I didn't realize the genetic testing I'd paid for shorted me some important elements of the data. Where did you have your genetic testing done? On your own or through a doctor? I am happy to hear that the gluten free thing has worked for you! I've tried stints of gluten free before but had always lost the faith after 2-3 weeks and stopped. How long before you started to notice a difference in the way you were feeling?

 

 

Thanks!

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Hi scrcdawn,

 

Thank you for the reply! I didn't realize the genetic testing I'd paid for shorted me some important elements of the data. Where did you have your genetic testing done? On your own or through a doctor? I am happy to hear that the gluten free thing has worked for you! I've tried stints of gluten free before but had always lost the faith after 2-3 weeks and stopped. How long before you started to notice a difference in the way you were feeling?

 

 

Thanks!

Hi,

I went through Quest labs, my doctor ordered the test ( although she did not know there was such a test and I had to tell her what to order, you have to do a lot of research on your own).

You could always contact the lab and ask about the rest of the genetic portion.

I had my first regular cycle right after I went gluten free and it has been every 28 days since.

My other symptoms went away in order of appearance I like to say.  Most of the joint and muscle pain was gone in a week, my finger joints which started first took about 2 months.  My severe constipation took almost 3 months and the reflux took about 2 months, and it is now completely gone.

The insomnia still comes and goes but the night sweats are gone.

Make sure you are eating 100% gluten free, and read every label.  I tend to avoid most packaged food, it is easier.  I only eat pasta on occasion and rice crackers as a treat.

Do not eat anything that says was processed in a facility that also processes wheat, the food is contaminated.

Good luck and stick with it, you need to go 100% to really feel the effects.

 

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Hi,

I went through Quest labs, my doctor ordered the test ( although she did not know there was such a test and I had to tell her what to order, you have to do a lot of research on your own).

You could always contact the lab and ask about the rest of the genetic portion.

I had my first regular cycle right after I went gluten free and it has been every 28 days since.

My other symptoms went away in order of appearance I like to say.  Most of the joint and muscle pain was gone in a week, my finger joints which started first took about 2 months.  My severe constipation took almost 3 months and the reflux took about 2 months, and it is now completely gone.

The insomnia still comes and goes but the night sweats are gone.

Make sure you are eating 100% gluten free, and read every label.  I tend to avoid most packaged food, it is easier.  I only eat pasta on occasion and rice crackers as a treat.

Do not eat anything that says was processed in a facility that also processes wheat, the food is contaminated.

Good luck and stick with it, you need to go 100% to really feel the effects.

 

Thank you so much for your advice! I may wait until the end of the holiday season and count it as a last gluten hoorah for 4-6 months (or maybe for life depending on what happens). I think I'll begin with the New Year and hope I've found my answer!

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the trans-DQ2,5 someone commented about, is made up from DQ2,2 AND the 05 alpha chain from DQ7,5.

 

Obviously you have DQ9  and not 7.

 

But DQ2,2 (the 0202 beta chain) in itself is a celiac gene, but 10x less than DQ2,5.

 

DQ9 is also a celiac gene.

 

http://www.ncbi.nlm.nih.gov/pubmed/?term=2342873

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