Wrongly diagnosed with Celiac Disease?

[Cbkilpatrick]

Hi,

My 10 year old son was diagnosed with Celiac Disease when he was 7 years old due to Ttg Iga numbers well over 100. His gastro said there was no need for a biopsy at the time since his numbers indisputably pointed to a Celiac diagnosis. However, he has never exhibited celiac symptoms except for constipation. We were trying to cure a bedwetting issue that led us to a gastro, and we ended up with a Celiac diagnosis. He has been on a strict gluten free diet for over three years now, and while he has stopped wetting the bed and his constipation is better, I don't know if that is due to maturity or a gluten free diet. He has accidentally slipped and eaten gluten on a handful of occasions and he has had no adverse reactions. Over the course of the last three years we have continued to monitor his blood work and have never been successful at lowering his Ttg Iga to lower than 6, so it is still slightly elevated. Recently my husband and I were gifted 23andMe health kits and were astounded to see that neither of us carry the genes for Celiac disease. This of course piqued our curiosity and we had our son genetically tested. He came back with 0 Celiac haplotypes and an extremely low risk of developing Celiac Disease. I have a call into his gastro to discuss but have yet to hear back. I am just baffled as to what this could be and wanted to know if anyone else had heard of or experienced anything like this.

Any insight is greatly appreciated!

Carrie

[trents]

Welcome to the forum, Cb!

It is not uncommon for celiacs to be largely asymptomatic. We call that "silent celiac disease." I was one of them but sense eating gluten free for almost 20 years now I find that I have much less tolerance for gluten than I did when consuming it daily. Now, if I accidentally consume a significant amount of gluten, like I did last summer when I mistook my wife's wheat biscuits for the gluten-free ones she had made at the same time, I get violently ill. So, what I'm saying is that a celiac's reaction to gluten can change over time.

That said, for some people there are also other ttg producing reactions to some non gluten foods such as milk protein and also to some meds such as anti inflammatories and the " . . . sartan" blood pressure reducers such as losartan. In short, we are learning that there are some things besides gluten that can cause elevated antibody levels that are usually attributed to celiac disease. 

But to me, the biggest question mark with regard to your son having celiac disease is the lack of genetic propensity. I wonder if the next step should be an endoscopy with biopsy of the small bowel to check for damaged villi. Docs are reluctant to do these on pedes, however.

[Cbkilpatrick]

1 minute ago, trents said:

Welcome to the forum, Cb!

It is not uncommon for celiacs to be largely asymptomatic. We call that "silent celiac disease." I was one of them but sense eating gluten free for almost 20 years now I find that I have much less tolerance for gluten than I did when consuming it daily. Now, if I accidentally consume a significant amount of gluten, like I did last summer when I mistook my wife's wheat biscuits for the gluten-free ones she had made at the same time, I get violently ill. So, what I'm saying is that a celiac's reaction to gluten can change over time.

That said, for some people there are also other ttg producing reactions to some non gluten foods such as milk protein and also to some meds such as anti inflammatories and the " . . . sartan" blood pressure reducers such as losartan. In short, we are learning that there are some things besides gluten that can cause elevated antibody levels that are usually attributed to celiac disease. 

But to me, the biggest question mark with regard to your son having celiac disease is the lack of genetic propensity. I wonder if the next step should be an endoscopy with biopsy of the small bowel to check for damaged villi. Docs are reluctant to do these on pedes, however.

Thanks for the response! We started to believe he was a silent celiac too. Our gastro did tell us to expect the longer he was guten free, the greater the reaction to gluten would become over time. It is the sheer lack of genetics that has us all so baffled. I had not heard about other antibody triggers, and that is one thing I am most interested in at the moment. I also thought a biopsy might be the next step just to see if there is damage consistent with celiac.

[Scott Adams]

If possible can you get hold of the the original blood test results and share them? 

[Cbkilpatrick]

5 minutes ago, Scott Adams said:

If possible can you get hold of the the original blood test results and share them? 

I will ask for those today when I talk to the gastro. I looked for them previously and couldn't find them. All I remember, is the gastro saying his numbers were well over 100 and some of the highest he had seen.

[ravenwoodglass]

Welcome to the board. Not much time but thought i should respond. While most people with celiac do have either DQ2 or DQ8 there are the rare cases, like my own, that folks have a different gene. I am a double DQ9 and am a firmly diagnosed celiac. My reactions are severe in part I think because i had celiac from a young age and wasn't diagnosed till I was in my forties. I presented with neuro symptoms and DH for many years before I had severe GI symptoms. I am very thankful that I was finally diagnosed before doctors started using the gene tests on a regular basis. I would literally be dead by now if doctors had relied on the gene testing. i have one child that was diagnosed by both blood and biopsy who later had gene testing done and her diagnosis was recinded. i fear greatly for what the future holds for her.

[trents]

Very valuable input, ravenwoodglass, as it seems to definitively answer the question of whether or not one can have celiac disease without the classic genetic profile generally associated with the disease.

[Cbkilpatrick]

1 hour ago, ravenwoodglass said:

Welcome to the board. Not much time but thought i should respond. While most people with celiac do have either DQ2 or DQ8 there are the rare cases, like my own, that folks have a different gene. I am a double DQ9 and am a firmly diagnosed celiac. My reactions are severe in part I think because i had celiac from a young age and wasn't diagnosed till I was in my forties. I presented with neuro symptoms and DH for many years before I had severe GI symptoms. I am very thankful that I was finally diagnosed before doctors started using the gene tests on a regular basis. I would literally be dead by now if doctors had relied on the gene testing. i have one child that was diagnosed by both blood and biopsy who later had gene testing done and her diagnosis was recinded. i fear greatly for what the future holds for her.

Thank you for this response and this is exactly what his gastro suspects. I have attached the genetic test results that show all the genes they tested for. I was under the impression ALL possible celiac genes were tested, and while most were, it appears there may be some super rare haplotypes that were not. Our gastro said he had never seen this before and neither had his colleagues. They want him to reintroduce gluten for 4-6 weeks and do another antibody test to see if his numbers start to rise again. To him, that would confirm celiac in a rare genetic form.

[trents]

CBKilpatrick, you are blessed to have a gastro doc who has an open mind and doesn't just operate on by the book autopilot and who is willing to listen to you and work with you.

[DJFL77I]

Over 100 is def Celiac. Mine were over 100 too . 

[Noles00]

Hi!  My teen was also diagnosed with celiacs without the gene for celiacs per 23andMe.  He was also non-symptomatic and it was an “incidental” finding when we went to the doctor for a completely unrelated reason.  
 

Anyhow, we even got a second GI a doctor and 2nd biopsy before making this significant life-long change to his diet because how on earth could he have celiacs without the gene??  After a 2nd biopsy confirmation, we circled back to his GP about the 23andMe Results.  We then had his GP do a blood genetics test for the celiacs genes and he DID indeed have one of them.  23andMe was wrong.  We felt we were doing our due diligence.  We had all of our kids tested to see if we needed to subject them to the celiacs blood test annually as suggested by gastric.  We dropped several hundred dollars on 23andMe And it was a complete waste as it was wrong.  
 

if you want real generic confirmation, ask your GP for a generic blood test.

 

 

[trents]

Thanks for sharing your experience. It serves as a good warning to others in the sense of realizing that labs can make mistakes and so it's a good idea to go at it from different angles.

[Cbkilpatrick]

1 hour ago, Noles00 said:

Hi!  My teen was also diagnosed with celiacs without the gene for celiacs per 23andMe.  He was also non-symptomatic and it was an “incidental” finding when we went to the doctor for a completely unrelated reason.  
 

Anyhow, we even got a second GI a doctor and 2nd biopsy before making this significant life-long change to his diet because how on earth could he have celiacs without the gene??  After a 2nd biopsy confirmation, we circled back to his GP about the 23andMe Results.  We then had his GP do a blood genetics test for the celiacs genes and he DID indeed have one of them.  23andMe was wrong.  We felt we were doing our due diligence.  We had all of our kids tested to see if we needed to subject them to the celiacs blood test annually as suggested by gastric.  We dropped several hundred dollars on 23andMe And it was a complete waste as it was wrong.  
 

if you want real generic confirmation, ask your GP for a generic blood test.

 

 

Thanks for your post. When my husband and I got the negative 23andMe results I started looking further into the genetic makeup of celiac disease and discovered 23andMe only tests for the two most common celiac genes, which is why we decided to find a total gluten ID test that looked at 12 possible celiac genes for my son. When his came back negative for all celiac genes, we were baffled thinking he would show a positive for a rarer gene. Apparently the test we had him do still eliminates some extremely rare haplotypes according to our GI. I am now wondering if we should do a generic blood test too. Do you know if the blood test you did was for full genetic mapping? Now that we have told him he can cheat and eat gluten again before we test again, I fear the reaction to telling him he has to go back to a gluten-free diet. He has felt so alienated for years of birthday parties, sleepovers, sports, etc. I thought this test would finally give us the definitive scientific proof but now we're more confused than ever.

[Posterboy]

On 1/21/2021 at 9:16 AM, Cbkilpatrick said:

Thank you for this response and this is exactly what his gastro suspects. I have attached the genetic test results that show all the genes they tested for. I was under the impression ALL possible celiac genes were tested, and while most were, it appears there may be some super rare haplotypes that were not. Our gastro said he had never seen this before and neither had his colleagues. They want him to reintroduce gluten for 4-6 weeks and do another antibody test to see if his numbers start to rise again. To him, that would confirm celiac in a rare genetic form.

Kilpatrick et Al,

I don't how to make this short....but I will try and be brief as as I can.

The current genetic Haplotypes favor Northern Europeans.....if you have different region of ancestry the chances you have a Haplotype that don't show up on current genetic tests are higher.....especially if you have East Asian ancestry....where DQ9 is common and they are finding it is a predominant type for Asians in general.

Here is  the research on it...

https://bmjopen.bmj.com/content/7/10/bmjopen-2017-017678

Other people have asked this question.....so I started doing some research on the topic....

This research studied Toronto (a very diverse city) with a high Asian population and they showed using "traditional" Northern Europeand Haplotypes that  in part a subset of East  Asians.....were getting Celiac disease without the traditional more common Haploytpes you were tested for....

quoting from the article...

"The HLA genotyping methodology employed in the present study was optimised for European populations, and it is possible that other, currently unidentified tag SNPs in the HLA region serve as alternate markers for the predisposing HLA-DQ genotypes required for the development of celiac disease in non-European populations."

.........Moreover, emerging evidence suggests that additional HLA variants may act as potential celiac disease risk factors in certain ethnocultural groups, for example the HLA-DQ9.3 haplotype in individuals of Chinese descent.43

Finally they note quoting again

"Indeed, genome-wide studies have identified several other genetic variants that account for additional fractions of the genetic risk for celiac disease.1 It is possible that such variants, coupled with HLA-DQ genotypes, may be particularly useful in establishing genetic risk gradients for celiac disease in individuals of non-Caucasian ancestry.42"

It will probably be awhile before current genetic tests update their methodology to test for the newly discovered HLA-DQ9 Haplotype.

You should also remove Dairy from their diet to see if it helps.

Here is a  great article done by Celiac.com recently on dairy in Celiac's....

https://www.celiac.com/celiac-disease/the-celiac-child-to-the-brink-of-death-and-back-again-r5418/

You should also check out the thread I believe it will help you.

https://www.celiac.com/forums/topic/154517-ttg-test-going-up-after-two-years-diagnosis-and-very-strict-gluten-free-diet/?tab=comments#comment-1083275

I hope this is helpful but it is not medical advice.

Posterboy,

[trents]

Good stuff, PB! Thanks. It was a much needed post.

[Noles00]

4 hours ago, Cbkilpatrick said:

Thanks for your post. When my husband and I got the negative 23andMe results I started looking further into the genetic makeup of celiac disease and discovered 23andMe only tests for the two most common celiac genes, which is why we decided to find a total gluten ID test that looked at 12 possible celiac genes for my son. When his came back negative for all celiac genes, we were baffled thinking he would show a positive for a rarer gene. Apparently the test we had him do still eliminates some extremely rare haplotypes according to our GI. I am now wondering if we should do a generic blood test too. Do you know if the blood test you did was for full genetic mapping? Now that we have told him he can cheat and eat gluten again before we test again, I fear the reaction to telling him he has to go back to a gluten-free diet. He has felt so alienated for years of birthday parties, sleepovers, sports, etc. I thought this test would finally give us the definitive scientific proof but now we're more confused than ever.

Was the other testing saliva or blood tests?  My other thought is that there is greater room for error in saliva than in blood dna?  I’m not even close to being scientifically minded so it’s just a guess based on seeing the difference in results for our son.  Here are the results.  
 

 

The one with the “positive” was the blood dna test.

I’m going to have to make a new post for the second pic.  It isn’t allowing the upload.

 

[Cbkilpatrick]

49 minutes ago, Noles00 said:

Was the other testing saliva or blood tests?  My other thought is that there is greater room for error in saliva than in blood dna?  I’m not even close to being scientifically minded so it’s just a guess based on seeing the difference in results for our son.  Here are the results.  
 

 

The one with the “positive” was the blood dna test.

I’m going to have to make a new post for the second pic.  It isn’t allowing the upload.

 

Very interesting indeed. It was a cheek swab. I am inclined to ask for the genetic blood test when we go in for our antibody test after eating gluten for 4-6 weeks.

[Cbkilpatrick]

Thank you for the info PB! This is all very interesting and makes me really want to find the answers. I have been culling over the links you sent and have found some very thought provoking info. I am determined to get to the bottom of this for the health of my son and for my own curiosity.

I appreciate everyone taking the time to respond.

[Posterboy]

On 1/20/2021 at 11:32 AM, Cbkilpatrick said:

However, he has never exhibited celiac symptoms except for constipation. We were trying to cure a bedwetting issue that led us to a gastro, and we ended up with a Celiac diagnosis.

Kilpatrick,

If you really believe you have received a Celiac diagnosis in error/by mistake you should definitely research more on Thiamine.

Knitty Kitty and myself have written/spoken the most on it....on this forum because we found it helped us!

Your comment on Constipation and Bed wetting triggered my memory.

The Hormones Matter website had a similar case study on Bed Wetting and a Thiamine deficiency.

See this article....

https://www.hormonesmatter.com/thiamine-deficiency-gardasil-fluoroquinolones/

Also see this article on a Vagus Nerve Disorder.

https://www.md-health.com/Vagus-Nerve.html

A Vagus Nerve disorder explains how people with a Thiamine deficiency can lead to both frequent urination and (Idiopathic IE of an unknown cause) Bed Wetting…

Somebody who has a Thiamine deficiency might find a Thiamine deficiency could be the trigger for their intractable constipation like your son!

Read the Vagus nerve article and How Thiamine Supplementation  might help Celiac's...

Quoting from the Vagus Nerve article...

 "You may also begin to develop constipation because your intestines are not regulating water intake the way they should”

Also note quoting again from the Vagus Nerve Disorder article...

"Patients/People who are dealing with an abnormal vagus nerve may have difficulty controlling their urine and may suffer from urinary incontinence."

Which explains what is happening to your son....

I have written a Posterboy blog post that might help you emphasizing the need for Thiamine supplementation in Celiac's.

https://www.celiac.com/blogs/entry/2731-a-case-for-thiamine-supplemenation-in-celiacs-if-only-for-a-season-in-time/

See also this Celiac.com article Scott graciously agreed to publish how about "Low Thiamine Levels Can Thin Villi in Celiac's"

https://www.celiac.com/celiac-disease/how-low-thiamine-can-thin-villi-old-research-rediscovered-and-its-clinical-significance-in-celiac-disease-r5100/

There is more I could say but this will get you started in the right direction.

I will say search for Knitty Kitty or the Posterboy and you will see several threads on this topic of how Thiamine is important in a Celiac's recovery.

I hope this is helpful but it is not medical advice.

2 Tim 2:7 “Consider what I say; and the Lord give thee understanding in all things” this included.

Posterboy by the Grace of God,

[Rafea]

I have recently been diagnosed with celiac disease but I have no symptoms but skin issues that doc said is dermatitis herpetiformis which according to them is a skin form of celiac disease..now i ve been taking dapsone from last two months... Earlier it improved my skin condition but now i again face same skin issues despite being on strict gluten-free diet... i m going mad about it now... Dont understand how to deal with it now 

[trents]

Be aware that food companies can and do change the formulations of their processed food products. What was once gluten free may no longer be. When problems reoccur it is a good idea to check all labels in your pantry and at the grocery store for any changes that might have introduced gluten. Same with meds and supplements.

[knitty kitty]

6 hours ago, Rafea said:

I have recently been diagnosed with celiac disease but I have no symptoms but skin issues that doc said is dermatitis herpetiformis which according to them is a skin form of celiac disease..now i ve been taking dapsone from last two months... Earlier it improved my skin condition but now i again face same skin issues despite being on strict gluten-free diet... i m going mad about it now... Dont understand how to deal with it now 

DH is aggravated by Iodine.  Try cutting iodine sources out of your diet.

Iodine is found in iodized salt (switch to Himalayan Sea Salt), eggs, dairy, shellfish, and seaweed among others.  

Hope this helps!

[Rafea]

All my tests done for celiac disease are negative.only skin biopsy showd DH...i have recently done biopsy again but it doesnt show DH... My skin condition is not improving at all ... My gene tests have not been done... so very confused as i get rashes anywhere on body and itching is very severe....I dnt trust Indian doctors at all.... 

[Scott Adams]

@Rafea are you on a gluten-free diet? I think in India a big issue might be contamination in spices and other things, for example I got some psyllium fiber powder from India and it tested positive for gluten.

[Rafea]

On 1/25/2021 at 6:56 AM, knitty kitty said:

DH is aggravated by Iodine.  Try cutting iodine sources out of your diet.

Iodine is found in iodized salt (switch to Himalayan Sea Salt), eggs, dairy, shellfish, and seaweed among others.  

Hope this helps!

I ve cut out all these products from my diet still itching is there