Potential Celiac Diagnosis?

[jen4az]

I'm so confused about my daughter's diagnosis.  I hope somebody can help.   My 4 year old daughter has a swollen belly, stomachaches, and lots of gas.  She does not have diarrhea or delayed growth.  Because of her symptoms and because it runs in the family (2nd degree relatives) I had her tested for celiac.   She was weak positive for TTG (IGA)  and strong positive for DGP (IGG)  

TTG (IGA)  8   (0-3 neg, 4-10 weak positive, greater than 10 positive)

TTG (IGG)  2  

EMA: Negative

DGP (IGG)  47  (0-19 negative, 20-30 weak positive, greater than 30 positive)

Last week, she had her endoscopy.  The doctor found inflammation and little holes or bumps on her duodenum.  He started her on prevacid and said based on his observations, he was suspicious of celiac, but he would not be able to confirm until the biopsy came back.

The biopsy showed no signs of celiac disease.  He said that he could not diagnose her with celiac without the biopsy report saying there was celiac damage.  He said he would categorize her as a potential celiac, keep her on a gluten diet and redo the endoscopy in a year or two to check for damage again.  My questions are:

1.)  If it is not celiac, something is causing her duodenum to be inflamed and have little holes or bumps on it, right?  Could it be a wheat allergy or gluten sensitivity?  What else could it be and how do they test for it?  Given her elevated celiac antibodies, how likely is it to be anything besides celiac causing the damage? 

2.)  How likely are false positives for TTG and DGP?  I've heard they are pretty sensitive and specific.  Does getting two positives make false positives less likely?

3.) What have you done in this situation?  I want her to have an official diagnosis to make things easier at school and to feel confident that we are eliminating gluten permanently for a worthy reason, etc.  But, I'm having a hard time imagining keeping her on gluten and waiting for her to get more sick and have more intestinal damage just for a diagnosis.  

 

Thanks in advance for your help.  I'm so overwhelmed and confused.  I hope someone has some insight and experience that will help clear things up for me.

 

 

 

 

 

 

[squirmingitch]

OMG!!!! The doc wants her to get sicker & sicker & do further damage so he can diagnose her? Don't do me any favors doc!!! I'm so spitting med right now I can't even speak!

Find a new doc, take the records & get a second opinion. Maybe the next doc will have a freaking brain & dx your daughter. She should be dx'd! This is absurd in the extreme.

The very least that should happen is the doc give her a dx now & then in a year or 2 have her do a gluten challenge & do a biopsy all over again but seriously, that would be just as cruel as what he's doing now. He's an ASS!

[squirmingitch]

Now that my initial rage has calmed a tad....

your daughter has to fulfill 4 out of 5 of the diagnostic criteria. Second opinion can do a gene test. If positive, then she will have4 out of 5 of the dx criteria to dx without a positive biopsy. See:

Open Original Shared Link

which says in part:

The presence of signs and symptoms compatible with celiac disease.

Positive serology screening (high serum levels of anti-TTG and/or EMA).

Presence of the predisposing genes HLA-DQ2 and/or –DQ8.

Histological evidence of auto-insult of jejunal mucosa typical of celiac disease.

Resolution of the symptoms and normalization of serology test following the implementation of a gluten-free diet.

 

Also see:

Open Original Shared Link

She can get a dx after her symptoms resolve on a gluten-free diet!

[squirmingitch]

To answer some of your questions....

Non celiac gluten sensitivity does not cause any damage to the small intestine so that is not the source of the "little holes or bumps". 

You need to get her records including the report of the endoscopy to see exactly what it says as well as the pathology report of the biopsies. You should always get medical records anyway & keep a copy for yourself. How many biopsies did he take? There should be a minimum of 4, ideally 6. The small intestine is very vast even in a small child. An adults is the size of a tennis court! That's a whole lot of territory so biopsies can miss damage especially when enough of them are not taken!

She has 2 positives on the serum panel. This crap about "weak" positives should be thrown out of the nomenclature! A positive is a positive, weak or not! Her DgP IGG is way over the range and extremely telling. As far as my knowledge goes, there is nothing else that causes a positive DgP IGG other than celiac disease.

False positives are really rare and to have 2 false positives would be astronomically rare!

You are right & smart that she really does need an official diagnosis!

IMHO, keep her on gluten for right now. Get a second opinion pronto & I believe you'll be able to get her a dx based on the 4 out of 5 rule if nothing else. I wouldn't think it's going to take more than a month to get to see another doc for a second opinion. Then you can take her off gluten. Kids heal up really fast, way faster than us old geezers!

I'm sure as others  wake up & get on their computers they will be along to voice their knowledge. I am in the eastern time zone & rise before the birds so I was on here early. Hang in there mom! You're doing the right thing!

[GFinDC]

I agree, it's very unlikely she doesn't have celiac disease.  Can you find a local celiac group to get a doctor recommendation from?  They might have the best idea of a local doctor who is familiar with celiac disease.  There is also a doctors sub-section of this forum which might help find one.  https://www.celiac.com/forums/forum/6-celiac-disease-doctors/

[jen4az]

Thank you so much for the responses.  I'm relieved to hear there is a 4 out of 5 rule.  I knew there had to be a more logical approach than waiting for more intestinal damage.  We actually did do the genetics blood work yesterday after the biopsy results came back because I'm trying to gather as much information as I can before we make a decision.  

The doctor took 6 samples total, 4 in the duodenum.   I will get a copy of the biopsy report and pictures of the duodenum damage he showed me.  After hearing from you, I'm sure I want a second opinion from another doctor.

Can anyone else comment on reasons for duodenum inflammation and damage?  The doctor talked about going to see an allergist if it is not celiac.  He mentioned that the allergist could look for gluten sensitivity and wheat allergy.  After hearing from you, it sounds like non-celiac gluten sensitivity would NOT cause the damage.  Can wheat allergy cause it?  Acid reflux?  What else?  I don't want to make the mistake of going down these rabbit holes of what it could be if it really couldn't be it.  My poor kid has already been through too much.   Thanks again.  

[cyclinglady]

Many things can damage the small intestine besides celiac disease:

Open Original Shared Link

Happily, I can share that I became a Great-Aunt this week for the first time  to a charming little boy. Sadly, my lovely 19 year old niece was diagnosed yesterday with Crohn's.  She had so many symptoms of celiac disease, I was sure she had it.  Actually, I was hoping that she'd have it, because Crohn's can be much worse.  At least there is a "cure" or known trigger for it -- gluten!  

Anyway, your daughter might be suffering from something other than celiac disease.  It is possible.  It could be a food intolerance (e.g. milk).  My niece has suffered for years with periodic episodes of abdominal pain, vomiting, etc.  She doesn't have all the "classic" Crohn's Disease symptoms either, yet a recent pill cam revealed a lot!  Her endoscopy was normal.  Celiac panel normal.  Gallbladder scan normal (non-functioning gallbladder is a family curse).  My heart goes out to her, but at least we know what we are dealing with.  Will she ever get celiac disease?  It could happen.

Keep advocating, Mom.  That's what I kept telling my SIL.  I also provided my SIL  a family health history tree that each GI was happy to receive.  Unfortunately, no one has had Crohn's in the family.  But, at least it allowed him to test my nieces gallbladder and for celiac disease (a full panel,  mind you).  

It would not hurt to get a second opinion.  

[StephanieL]

15 hours ago, squirmingitch said:

Now that my initial rage has calmed a tad....

your daughter has to fulfill 4 out of 5 of the diagnostic criteria. Second opinion can do a gene test. If positive, then she will have4 out of 5 of the dx criteria to dx without a positive biopsy. See:

Open Original Shared Link

which says in part:

This 4 out of 5 criteria does not apply to children. I was never given a reason why, but it isn't.  

 

That said, you may try to get a second opinion from another GI who may be willing to give her a firm dx.  We were in your boat 6 years ago and while I'm sure I'll get slammed for it, I wish we had kept gluten in our kiddos diet till he scoped positive for a variety of reasons.  Again, even family is different and you have to find what is best for you!

[Gemini]

I think the posters above have given you very good information and I will throw in my 2 cents worth.  I am surprised that they did not test her DGP IgA also.  I am sure that would have been positive.  They switched off with antibody classes and usually they do both tests for both antibodies.  IgA is more specific to Celiac but the IgG is also useful.  The testing shows your daughter is producing antibodies to the gluten in her diet. (DGP IGG). THe tTg shows positive for some damage or inflammation.

You know........your daughter is only 4.  She hasn't been on the planet or eating gluten that long. It can take years for enough damage to occur for it to be able to be found on biopsy.  I would say it is highly likely that this is Celiac, especially with her symptoms. But because the damage hasn't graduated to bad enough yet, they won't diagnose her. I think you need to do what others have said and get all copies of testing and find someone else who will take a look and give a diagnosis, especially if they have you do a dietary trial and her symptoms go away.  That might be the only recourse if you want faster proof. I know I would want faster.  I would not really be happy if I thought I had to keep feeding her something that was making her sick.  If you keep her on gluten long enough, the diarrhea will probably show up.

BTW.........the criteria mentioned regarding diagnosis does not apply to kids.  I know it's silly and stupid but most leading Celiac specialists do not go by this criteria for kids.......adults only.  Keep that in mind because it might come up.  You could recognize it but they might not.

Have you considered gene testing, to help bolster a diagnosis?

As far as false positives go, it's the other way around. False negatives happen more frequently than many people think.  It's a recurring theme here.  With her symptoms, which is what I had, a bloated belly and tummy aches are telling.  Have they tested her for lactose intolerance?  That can cause similar symptoms, although it sure won't raise those 2 blood tests.  Keep looking for Celiac because there are many red flags here.

[squirmingitch]

Thanks Stephanie & Gemini for the info. that the 4 of 5 doesn't apply to children. I wasn't aware of that until now. 

[jen4az]

Thank you all for the resources and helpful information.  We are waiting for the genetics results test to come back.  I will update post an update when I have more information.  Thanks again!

[jen4az]

For those of you that are curious of the outcome of all this, my daughter's genetic test came back positive for DQ2 gene.  I mentioned the 4 out of 5 rule to the GI and he said he only uses a positive biopsy and positive blood work to give an official diagnosis.  And he suggested seeing an allergist to rule out allergies and repeating the endoscopy in a few months.  He said that in a few months, the prevacid would clear up the inflammation in her duodenum if it was from acid inflammation.  If it was celiac, the inflammation would be the same even though she has been on prevacid for a few months.  He said that he would also take more biopsies to see if they could find the damage.  

I am so frustrated and overwhelmed by this process and not sure if we should take any of the steps he recommended.  I guess we will make an appointment with her pedi to try and get a referral for a 2nd opinion... 

[squirmingitch]

I think you're smart to go for a 2nd opinion.

Thanks for letting us know what happened. We really do pay attention on here & wonder how things turned out for people. It's so nice when someone thinks to tell us instead of drifting off into never, never land.

[jen4az]

We can't get in for a 2nd opinion until December!  We've decided to go gluten-free until then.  After a rough, tired and cranky first few days, my daughter seems to be feeling better.  My question is: how long do most people wait to re-check antibody levels?  Particularly ttg-iga and dgp-igg since those are the ones she tested positive for initially?  

[Gemini]

27 minutes ago, jen4az said:

We can't get in for a 2nd opinion until December!  We've decided to go gluten-free until then.  After a rough, tired and cranky first few days, my daughter seems to be feeling better.  My question is: how long do most people wait to re-check antibody levels?  Particularly ttg-iga and dgp-igg since those are the ones she tested positive for initially?  

I did not re-test my antibodies for a full year after diagnosis but I think your daughter should be checked again in 6 months.  If she does have celiac, and I really am sure she does regardless of what this doc seems to think, they should decrease in 6 months.  If she is fast healer, they could potentially be in the normal range but it varies from person to person.

She did show damage in her small intestine but at 4 years of age, damage would not have progressed to the point where this doctor could be convinced it is Celiac.  They set the bar way too high. Kind of silly to require you to damage her insides further to prove it to the AMA. I think she should go gluten-free, as you have stated, and re-scope her in 6 months to see how the original damage looks then. If it is gone, then maybe that would convince them.

The 4 out 5 criteria is not done in kids because, I am convinced, of liability issues. They just do not want to get sued if by some small chance, they diagnosed someone who did not have Celiac.  I think the odds of that are pretty slim, when you think about it. Even with a misdiagnosis, eating gluten free will never harm anyone. But as children are minors and cannot legally make medical decisions on their own like adults can, that rule is out for them.

[jen4az]

We are still waiting on the 2nd opinion for my 5 year old's diagnosis.  Meanwhile, my husband and 9 year old were tested because of symptoms they have.  Here are my daughter's results.  I asked them to run the DGP tests, but they did not.

Gliadin Ab IgA:   15    ref rng (0-19)

Gliadin Ab IgG:   52    ref rng (0-19)

TTG IgA:              2       ref rng (0-3)

TTG IgG:             14     ref rng (0-5)

EMA IgA:           positive

IgA:                    261   ref rng (51-220)

I know that a positive EMA is really specific for celiac.  I'm wondering what the significance of her High IgA (Immunglobulin A) result?  I know that IgA deficient people get false negatives.  Do people with a high IgA get false positives?  I'm taking her to the GI regardless, but I've tried to research the significance of her high IgA and I couldn't figure it out.  I'm hoping that someone can explain it to me.  

My husband had the same tests done and he was only positive for TTG IgG and his IgA was in the normal range.  He does have symptoms so I hope the doctor will want to do the biopsy regardless of his other negative test scores.  Thank you all in advance for listening and for your support and help!

[squirmingitch]

Your daughter is absolutely positive - no question about it. No, people with high IgA do not get false positives. Very telling results on your daughter. EMA positive, TTG IgG positive, Gliadin Ab IgG positive - really high! Keep her on gluten until you get the endoscopy for her.

Your hubs is also positive so on to an endoscopy. Keep him on gluten.

 

[jen4az]

Thank you for the responses!

 I have been asking my kid's pediatrician to test all of my kids for celiac since it runs in the family and my 5 year old was positive.  She wasn't convinced that they all needed testing, so she only tested my 9 year old daughter with symptoms.  After my daughter with symptoms tested positive and my husband, she finally agreed to test everyone.  I just got the results today.  My 3 year old tested strongly positive.  TTG (IGA) 147, TTG (IGG) 67, EMA Positive, and IGG 61.  My other 9 year old daughter tested similarly to my husband with only being positive for TTG (IGG.)  

So, now my husband, 9 year old twins, 5 year old and 3 year old have all tested positive.  I'm feeling a huge range of emotions: relieved to catch it, guilty for not knowing earlier, overwhelmed and sad that they have to deal with this their whole life and worried that my 3 year old who is very picky will starve on a gluten-free diet.   I know you can all relate, thank you for listening.

I do have a couple of questions.  How many of you have decided to skip the endoscopy because of high numbers and other family member's diagnosis?  I particularly don't want to put my 3 year old through the endoscopy and she does have a strong positive.  What are the pros/cons of doing it?  Also, how common is it to have EVERYONE in your family have Celiac?  It seems so bizarre to me that everyone would have it.  I know there are bigger odds of getting it when it runs in your family, but EVERYONE?  What has been your experience?

Thank you so much!  

[Gemini]

Hi Jen.......first the high total IgA.  I am not a doctor but am going by my experience.  I failed all but one of the tests by huge numbers and never went for the endoscopy. The one that was normal, funny enough, was the tTg IgG but my AGA IgG was very high. Celiac testing can be really bizarre. I am an adult and was really sick at time of diagnosis so skipped the endoscopy because I presented with classic Celiac and had massive gut issues so could not do the test. The doctor told me I did not need one because my blood testing was so high and I was so thin, they wanted me on the diet immediately.  They don't like that scenario for kids so expect push back.

My total IgA, at diagnosis, was over 700, when the normal range was much lower. After I healed and had repeat antibody testing done yearly, my total IgA started to drop and ended up within the normal limits for the testing. I think what happens is that when you go long enough eating gluten, it raises everything. Your total IgA would increase because your body is pumping out these antibodies in response to eating gluten. So, even though the total IgA test is not diagnostic for Celiac, they were elevated due to gluten consumption.  When I went gluten-free, the numbers normalized over time, just like the other antibody testing.  My EMA was very positive also so with that, it is about 99% certain it is Celiac.

As for the whole family having it?  I work with a man from Ireland, the land of the celiac. He is one of 6 children. His mother and all 5 of his siblings have it and he and his father did not.  So, it is possible that a whole family could have it. It may seem less likely here in the States because doctors do NOT understand how prevalent it is and often, do not test first degree relatives as much as they do in other countries like Ireland. If they did, you would see more families of celiac here in the States. It is genetic, after all.

Hope this helps!

[squirmingitch]

Well if you carry the gene & your hubs carries the gene then I would assume the odds are greater that the kids will present with celiac. I think we have skewed numbers for family members having celiac and they are skewed on the negative side. If family members are not routinely tested then there can be no (or not enough) statistics to reflect the true state of things. Even though protocol states family members should be tested, doctors just aren't aware of that -- just like your kids ped gave you a hard time about testing the rest of the kids. If the docs don't know to test them then how many celiacs are out there that don't know their family members should be tested? We see it here all the time. New celaics come to the site & have never been told by the doc that their family should be tested. They have no clue until we tell them.

I am in favor of your kids getting the endoscopy and here's why. They need a bonafied dx so school and college take them seriously and the kids will be protected. People have argued on here that their school district doesn't require a dx and others find they have to fight like a tigress to get their kids protected in their school district. So let's say you live where the school will take your word for it and do a great job of making sure your kids are protected. Great! Now, will you always live there? We never know where life is going to take us. You may move within the county, or within the state or you may move across country and do so several times before your 3 yr. old graduates. Even if you stayed in your present school district, what guarantee do we have that the policies of the district will not change over time?

An endoscopy is not really a big deal. Read in the Parents of Kids or Babies section

https://www.celiac.com/forums/forum/10-celiac-disease-parents-of-kids-or-babies-with-celiac-disease/

Read this entire thread:

 

Here's another:

 

Here's another:

 

And this:

 

 

[Kasia2016]

On 29/07/2016 at 6:57 AM, squirmingitch said:

Now that my initial rage has calmed a tad....

your daughter has to fulfill 4 out of 5 of the diagnostic criteria. Second opinion can do a gene test. If positive, then she will have4 out of 5 of the dx criteria to dx without a positive biopsy. See:

Open Original Shared Link

which says in part:

The presence of signs and symptoms compatible with celiac disease.

Positive serology screening (high serum levels of anti-TTG and/or EMA).

Presence of the predisposing genes HLA-DQ2 and/or –DQ8.

Histological evidence of auto-insult of jejunal mucosa typical of celiac disease.

Resolution of the symptoms and normalization of serology test following the implementation of a gluten-free diet.

 

Also see:

Open Original Shared Link

She can get a dx after her symptoms resolve on a gluten-free diet!

I have a question. Hey guys so question. I still am going through some of the motions to finally be diagnosed. I has a really bad case of acid reflux a few days ago and now i feel soo sick. Im still eating gluten because i got a negative test but ive been told thag i more than likely still have it because its really hard to detect. Well i drank beer last night and had a poutine today stupid i know and now i feel soooo sick. And only felt really sick after the poutine. Now my question is can your symptoms get worse all of a sudden??  I have many other symptoms thaat read celiac deisease for most of my life. But since all doctors told me you have anxiety ibs and fibro at 28 years old. I just baiscally gave up and figured this was going to be my life feeling like crap for the rest of my life. Any thoughts??? Thanks guys. Sorry for the novel lol

[Kasia2016]

A negative result from a biopsy that is. 

[GFinDC]

Hi Kasia2016,

Yes, celiac disease symptoms can vary widely.  Some people have no symptoms, we call that silent celiac.  Other have difficulty walking (gluten ataxia), skin rashes (dermatitis herpetiformis), and thyroid disease (Hashimoto's thyroiditis).  The list goes on and on.  GI symptoms can vary widely too, from mild symptoms at times to severe symptoms.

[jen4az]

Thank you for the resources.  I am SO frustrated.  We are in the military and my husband's doctor sent over a referral request to the base GI.  The Dr. declined the referral to see the GI.  He said that a weak positive TTG-IGG does not warrant a GI referral or Endoscopy.  My husband told his doctor that he has diarrhea at least once a day, a family history of celiac and he tested positive for TTG (IGG.)  My husband wants to try and convince the GI to give him a referral.  Does anyone have any GI guidelines or resources that prove this GI doctor wrong?  I've heard on this forum that people can have negative bloodwork and still have celiac disease.  Any journals or research we can bring up when he talks to his doctor?   Thanks again!  I would probably be going completely crazy without you all.  This diagnosis process is extremely frustrating!

[vickyloveaimee]

I assume my daughter has celiac ,I let her on  gluten free diet  for about 1 month now.( her behavior /sensory issue has improved lot)

she test negative from the blood work,only IGG positive but doctor said it didn't mean anything,so I order stool test for her and genetic test from a lab,it back she carry dq2 gene and positive for gluten intorance.

I guess if she continues to eat gluten,she will eventually develop real celiac .