3 Year Old With Positive Blood Panel - Next Steps?

[peppyking]

I'm new to this. My three year old daughter had what I understand to be high #s on her celiac blood test:

Tissue transglutaminase ab, iga >100 (> or + 4 antibody detected)

Immunoglobulin A 126 (reference range 24-121 m/g)

Gliadin (deamidated) AB (IGA) >100 (> or = 20 units antibody detected)

endomysial antibody screen (IGA) positive

Endomysial antibody titer 1:160 (ref range less than 1:5)

 

The nurse from the GI office said she has never seen the doc not do an endoscopy for celiac diagnosis. Would you push back on this or is it worth the endoscopy/biopsies to be sure?

 

Also, my husband (appears very symptomatic) and five year old (no typical symptoms, but he does have possible symptoms like sensory issues and other behavioral issues, which may be unrelated) are awaiting their blood test results. If either are negative, what are their next steps? Should we do genetic screening for everyone or just follow up with blood tests every few years?

 

Since my husband is so symptomatic, I sent him right away for a blood test. I have no symptoms or medical issues. Should I bother being tested, especially if my husband turns out to have celiac disease?

 

Thanks for any advise. I just want to get this part behind us and de-gluten our home and my little girl.

[BlessedMommy]

All first degree relatives should be tested.

 

I would definitely do the endoscopy, if possible. Celiac is a lifelong diagnosis, and especially for a child, you want the diagnosis to be as bullet proof as possible. I would find a doctor that doesn't nullify high bloodwork numbers with a negative biopsy though, since very high bloodwork almost certainly means celiac, even if they couldn't find any damage from the particular samples that they took.

[StephanieL]

All first degree relatives should be tested.

 

I would find a doctor that doesn't nullify high bloodwork numbers with a negative biopsy though, since very high bloodwork almost certainly means celiac, even if they couldn't find any damage from the particular samples that they took.

 

 

I would do the scope. There is a chance that in the future you would be really wanting a "baseline" to look at how things are improving (or not improving).  As Blessed Mommy said, all first degree relatives (regardless on symptoms) should be tested and continue to be tested every 3 years (that's the current recommendation).  

 

As for a Dr. who won't nullify blood work even if highly positive, I do not think there are many who follow that.  Even the "Top" Celiac Dr. in the country does not subscribe to this thinking in children.

[nvsmom]

With so many positive tests, I'll go against the grain and say that I think the biopsy is not needed for a diagnosis.  The EMA IgA is over 98% specific to celiac disease, and the other positive tests are almost as specific.  If she is having some symptoms, even if they are mild, I would say a celiac disease diagnosis is a slam dunk.  

 

I was diagnosed with just a positive EMA IgA and a positive tTG IgA.  I never did the biopsy. I was sure it was celiac disease.

 

All that being said, if you think a biopsy would be helpful to give you a baseline of damage, then you might want to consider it. Some celiacs can take years for their symptoms to improve after going gluten-free, and some may have repeat biopsies to see waht's going on.  In that case it would be helpful but that really is a small minority.

 

If you do get the biopsy done, she'll  need to be eating gluten in the 2-4 weeks prior to the procedure.  If the biopsy is soon, you should not have her go gluten-free yet.

 

Also, make sure they take at least 6 samples.  Damage caused by celiac disease is missed up to 20% of the time, so if multiple samples are taken the doctor has a better chance of detecting patchy damage.

 

And I would test everyone in the family every two years if they have negative tests and are continuing to eat gluten.  Celiac can develop anytime in life so it is important to retest.  You could also have the household go gluten-free, in which case you won't need to retest anybody until they decide to try gluten again... and that's if they have negative tests.  If it's positive then they are gluten-free for life.

 

Welcome to the board.  

[peppyking]

StephanieL - so most docs would still diagnose her as celiac even if the biopsies were normal, right? All of the negatives in your last sentence got me flipped around;)

 

I appreciate all of the information. Her GI appt is Thursday, so it helps having knowledge going in.

 

Thanks for the welcome! This is not a group I would have wanted to join, but as diseases go, I'm thankful she has one that can be addressed with diet and that there are forums like this. I've been pouring over the threads and learning a lot.

 

I am planning to at least make our home gluten-free and am overwhelmed by so many questions, mostly related to avoiding contamination from existing kitchen supplies. Is there a master list of what to keep and give away? Will a dietician walk me through that or just discuss actual food items?

[StephanieL]

Unfortunately, no.  Most will say no positive biopsy, not Celiac.  They may say latent Celiac (waiting for damage basically) but not Celiac.

 

I would not change anything till you see  the GI.  There is a list of "what to replace" here. I'll try and find it when I'm on a real computer later.

[nvsmom]

I agree with StephanieL.  Most docs will probably advise you to keep feeding her gluten for another year and then to come back and retest with the hopes that the damage is bad enough that he feels comfortable giving a firm celiac disease diagnosis.    We've seen that many many times.

 

To get a diagnosis of celiac disease, Dr Fasano (leading celiac disease researcher) says the patient should meet 4 of the 5 of the following criteria:

1. Celiac symptoms
2. Positive blood tests
3. Positive Biopsy
4. Positive genetic tests
5. positive response to the gluten-free diet.

If you have the genetic test done (97% of celiacs have either the DQ2 and or the DQ8 genes) and have her go gluten-free with a good response, then she will indisputably have celiac disease even if the biopsy is negative. Open Original Shared Link

[StephanieL]

 

To get a diagnosis of celiac disease, Dr Fasano (leading celiac disease researcher) says the patient should meet 4 of the 5 of the following criteria:

1. Celiac symptoms
2. Positive blood tests
3. Positive Biopsy
4. Positive genetic tests
5. positive response to the gluten-free diet.

If you have the genetic test done (97% of celiacs have either the DQ2 and or the DQ8 genes) and have her go gluten-free with a good response, then she will indisputably have celiac disease even if the biopsy is negative. Open Original Shared Link

 

Dr. Fassano does NOT follow this criteria for children.  

[peppyking]

Ugh! Well, I guess we'll see what happens at the GI appt and likely biopsy. I'm sure I'll have more questions then. Meanwhile, I'll keep trying to get more educated on the subject.

It's hard to wait.

[nvsmom]

Dr. Fassano does NOT follow this criteria for children.  

Oh... I thought he did. He wrote this:

An important corollary of this rule is that the small intestinal biopsy may be avoided in selected cases, in which a typical clinical presentation, high titer IgA class anti-TTG and EMA antibodies, and the presence of HLA-DQ2 and/or –DQ8 predisposing genes are present. The diagnosis is confirmed by the resolution of the symptoms and normalization of the celiac disease serology markers upon implementation of the gluten-free diet. This new approach has been validated by the recent review of celiac disease diagnostic guidelines published by the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).¹²

 here: Open Original Shared Link

 

I can't remember reading anything contrary to this.  Is he "easier" on the kids?

 

 

Ugh! Well, I guess we'll see what happens at the GI appt and likely biopsy. I'm sure I'll have more questions then. Meanwhile, I'll keep trying to get more educated on the subject.

It's hard to wait.

 

 

Waiting is maddening.  Hang in there.

[StephanieL]

Oh... I thought he did. He wrote this:

An important corollary of this rule is that the small intestinal biopsy may be avoided in selected cases, in which a typical clinical presentation, high titer IgA class anti-TTG and EMA antibodies, and the presence of HLA-DQ2 and/or –DQ8 predisposing genes are present. The diagnosis is confirmed by the resolution of the symptoms and normalization of the celiac disease serology markers upon implementation of the gluten-free diet. This new approach has been validated by the recent review of celiac disease diagnostic guidelines published by the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).¹²

 here: Open Original Shared Link

 

I can't remember reading anything contrary to this.  Is he "easier" on the kids?

 

 

When asked exactly this about his criteria (which my DS fit 4 of the 5 being only biopsy negative) his office said that isn't the criteria for children and would not elaborate on why that is. He is not easier on kids and expect us to do a gluten challenge and biopsy for my kid who has been gluten-free 4+ years to confirm celiac disease.  This was with initial tTG's of over 120, the "worse" of the 2 genes, symptoms and resolution of those after going gluten-free. 

 

Nothing published. This was what we were told as a patient of his.

[BlessedMommy]

Wow, I'm sorry that you're having to deal with this Stephanie. Are you going to do the challenge or just keep him gluten free?

 

If your kid got really sick and had really bad symptoms during the challenge and still had a negative biopsy, what would the doctors do then?

[StephanieL]

Wow, I'm sorry that you're having to deal with this Stephanie. Are you going to do the challenge or just keep him gluten free?

 

If your kid got really sick and had really bad symptoms during the challenge and still had a negative biopsy, what would the doctors do then?

 

We went to Boston in the early summer. We had "stuff" we had to do when we got back including getting them slides of the original biopsy, blood work sent to Mayo as well as here at home and then dealing with the possibility that DS" brain was falling out of his spinal column (which it is thankfully not! lol). THEN we had school starting when all that was settles and the our first ever real family vacation. As it stands, we have 2 Dr's here who are 100% sure it's celiac disease.  The only reason we went to see Fassino was because of his continually high tTG's or we wouldn't have even gone to see him so we spent a LOT of money and have no more answer than we did 6 months ago!  Awesome lol   DH and I said IF we did a challenge and biopsy we won't do it till the summer.  He's missed enough school and we have no idea how he would deal as he hasn't had gluten in 4+ years. 

 

All that to say to the OP- I would start by asking the Dr. what they will tell you in the biopsy is -.  If you are okay with the answer (dx even with - scope) I would (personally) do it.  And I am as anti medicine as you can get, I have babies at home to avoid those people but I want a clear picture for my kiddos and the more information available the better TO ME!  (I don't judge you no matter what you choose here! I completely understand whatever you choose!!)

[nvsmom]

When asked exactly this about his criteria (which my DS fit 4 of the 5 being only biopsy negative) his office said that isn't the criteria for children and would not elaborate on why that is. He is not easier on kids and expect us to do a gluten challenge and biopsy for my kid who has been gluten-free 4+ years to confirm celiac disease.  This was with initial tTG's of over 120, the "worse" of the 2 genes, symptoms and resolution of those after going gluten-free. 

 

Nothing published. This was what we were told as a patient of his.

 

Ah geez. What a shame.  I know he's a leading researcher and all but those big egos get annoying.  

[BlessedMommy]

Well, if your doctors are sure it's celiac, probably a challenge is not needed. I know exactly where you're coming from. I'm not big on doctors and I have had all of my babies at home to avoid the hospital too--but I'm the same for my kids, I want an exact answer of what's going on.

[StephanieL]

I wasn't questioning it really. We went to try and figure out why his levels are still elevated after 4+ years on the diet And for that we still have no answers which makes me crazy!!!

[peppyking]

Oh, StephanieL! That sounds terrible. I hope you get answers for your little guy. 

[africanqueen99]

OP - I'm going to respectfully request that you speak to your GI first.  A lot of parents here have a lot of experience, but we all come from different areas.  Our Pediatric GI DX my 1.5 y/o on blood alone (she didn't feel that biopsies were worthwhile for young children) and DX my 7.5 y/o with a negative biopsy.  They're all different - some are more stringent on the "standards" and some listen to the kids and what their bodies are telling them.

[StephanieL]

I think everyone is telling her exactly this, that she needs to see the Dr.  She was looking for experiences on biopsy vs. not doing them and I believe there are pros and cons to each.  

Did your kids have the genetic testing Angela?  I do think that esp. in kids, waiting for damage is silly if they do fit the other criteria for a celiac disease dx put out there by Fassino but again as I said he doesn't follow that for kids so....

 

Obviously your Dr. will have advice for you and suggestions. You can see there are (as with all things) differing opinions on how to proceed.  I am of the "the more information the better" but I do see the appeal of a dx without invasive testing!  Again, all things your Dr. will likely discuss with you.

[peppyking]

I do get that it's a necessary convo with the GI. Since his nurse was pretty confident he will order the endoscopy, I just want to go in prepared. Especially, since it is our first visit and I have no knowledge of his bedside manner and thoroughness in answering my many questions. The different experiences and perspectives certainly will help shape the conversation.

[peppyking]

Her symptoms seem to be getting worse. About two weeks ago, she was up all night with stomach cramps. Last night, she was up cramping for hours and vomiting. So sad!

[africanqueen99]

Did your kids have the genetic testing Angela?  I do think that esp. in kids, waiting for damage is silly if they do fit the other criteria for a celiac disease dx put out there by Fassino but again as I said he doesn't follow that for kids so....

No.  All this started when my youngest's blood work came back at an alarming high rate for a toddler.  Because she was a baby the GI didn't like putting her under for a biopsy.  So I asked that blood be drawn again - just to be sure.  Then we tested the older two.  They both had the same number (in between 5-10 - so that weird, "could go either way" spot) and both were scoped with no damage.  BUT my oldest had already seen this GI years ago for undiagnosed stomach pains AND had lost weight during that time AND hadn't grown at all AND had a first degree relative.  A different GI might not have given either girl a DX, but my baby hasn't screamed in pain all night and my oldest hasn't complained about stomach aches since we made the change. 

 

That's all my point - every GI is different.

[calabaza78]

Hi and welcome  I'm new to this parenting a celiac child thing, too.  My two year old had similarly high numbers on her blood test in August, and the GI fit her in to do a biopsy just to be sure there was full evidence for a diagnosis, since it is a life-long condition and my daughter will need proof of diagnosis to get special accommodations in school in the future.  The GI told us it was standard best practice to recommend initial blood testing for all immediate relatives, so my husband, son, and I all went to be tested.  Especially if you are going to be making dietary changes for your whole household, you might as well all get the blood test just to have a baseline for yourselves. Best wishes.