Positive Biopsies, Negative Serology - ?

[murphy203]

Good morning,

 

I had an endoscopy recently for unexplained, severe anemia, and the biopsies are "definitely concerning" for celiac disease.  I don't have Marsh scores yet, and my followup appointment isn't for another week.  My followup TTG and EMA results were negative, with no total IGA deficiency.  Still waiting for HLA results -- how long do these normally take?

 

I have Hashimotos (since my teens), and my son has type 1 diabetes. 

 

Should I just throw in the towel and start eating gluten-free???

 

I am slightly freaked out...

[nvsmom]

Welcome to the board.  

 

The tTG IgA is not a perfect test. When positive, it is 95% specific to celiac disease but its sensitivity can be as low as 75% (it can miss up to 25% of celiacs).  The EMA IgA is very similar to the tTG IgA test except that it is positive when the damage becomes more advanced.  It is quite unusual to have a positive EMA IgA when the tTG IgA is negative - I've only seen that twoor so times in the three years I have been on this board.  I would expect a negative EMA IgA if the tTG IgA was negative.

 

Perhaps look into getting the other celiac disease tests done?  Some celiacs are positive only in the DGP tests, others only in the IgG based tests even if they have normal IgA levels. Doing more tests may give you a better clue if your abnormal biopsy results were indeed caused by celiac disease.

 

Request these tests:

• tTG IgG (tissue transglutaminase)
• DGP IgA and DGP IgG (deaminated gliadin peptides)
• AGA IgG and AGA IgG (anti-gliadin antibodies) - older and less reliable tests largely replaced by the DGP tests
• total serum IgG - might be good to check ut is most likely normal

 

This article discusses testing from pages 7-13: Open Original Shared Link

 

You need to be eating gluten (1/2 slice to 2 slices of bread per day) in the 8-12 weeks prior to the tests being done.  Don't go gluten-free unless you are satisfied that testing is complete.

 

That being said, there is a VERY strong link between celiac disease and thyroiditis, and an even stronger one with diabetes (T1).  Since you have a positive biopsy, Hashimoto's, and anemia (now thought to be one of the most common celiac disease symptoms), I would assume you have celiac disease that happens to be serologically negative.  It is not the norm, but it is FAR from rare; there are many people around here in the same boat as you, or with a negative biopsy but positive tests..  It happens.

 

As for the HLA testing, that just tells you if you are part of the 30% of the world who has the genes (DQ2 or DQ8)  that most celiacs have.  A positive just means that you are in the higher risk group; your chances of getting celiac disease would be closer 1 in 30 (or 1 in 40)  rather than the 1 in 133 of the world's population. It won't tell you if you have celiac disease.  In fact, a very small minority (~3%) of celiacs do not even have those genes so a negative result does not absolutely mean you can't develop celiac disease.

 

Besides, with a history of Hashi's, and a son with diabetes, you most likely have the genes.    BTW, those with diabetes are at a much higher risk of developing celiac disease sometime in their life; I think the risk is close to 1 in 10.  If your son is eating any gluten at all, he should be checked (with all the blood tests) every two years or as soon as any symptoms present themselves.... Any other children should be checked too because you (most likely) have celiac disease; their risk of developing is somewhere between 1 in 10 and 1 in 22.

 

I'm afraid I don't know how long those tests take to do. I did not have them done.

 

I've babbled.... My advice would be to finish getting the blood tests for celiac disease.  If any of those, or the biopsy, comes back positive then assume you have celiac disease and go gluten-free. Get the kids tested too.  Going gluten-free is tough for the first few months but it gets easier once you know your brands and what is safe.  

 

It's almost like shopping in a new, large grocery store. At first it is a pain and you don't know where anything is but as time goes by, you eventually learn your way around.

 

Best wishes.

[nvsmom]

Oops. I forgot to mention that getting nutrient levels checked is a good idea for celiacs.  We are often low in: B12, D, A, K, Mg, Ca, Cu, Fe, Zn, and ferritin.

[cyclinglady]

Everything that NVSMOM said! I am one of those who had the complete celiac disease panel and had only one DPG test positive. Looks like you did not get that one! My biopsy showed a Marsh stage IIIB. I also have Hashi's (almost 20 years). Anemia was my only symptom too. Just went in for a routine colonoscopy and my GI guessed celiac disease based on my history of anemia and that I was four months into menopause.

[murphy203]

Thanks for the information.  My doctors are heading to a dx of celiac unless the genetic tests come back negative.  Neither suggested the DGP tests, I'll ask for them for a lab referral for that and the nutrients.  Pretty soon I will know the lab techs by name, LOL.  I already know my ferritin level -- it is so low (3) that I will need a blood transfusion/infusion (can't remember what she said) next week unless it improves.  I have been taking iron supplements for a few weeks now. 

 

My son had an annual physical a few days ago and asked for the celiac panel all by himself -- go, kiddo!!  He actually used to see Dr. Fasano back in the day when he was a pediatric gastro at a nearby hospital -- son was equivocally positive with his blood tests but his biopsies were negative.  No recommendations to go gluten-free at that time, and we never re-tested for some reason.  He's 22 now -- it was probably about 6-8 years ago that he was tested.

 

Family is super-supportive, dinners will be gluten-free and I have claimed a "clean" area of the kitchen for my purposes.  I am lucky that kids are older, for sure!  Most recent trip to grocery store was a little emotional -- its overwhelming to think about really being perfectly gluten-free.  Its good to read posts from people that have learned the ropes and are no longer fazed by the eating regimen << hope that it is me one day.

 

Or maybe the genetic tests will be negative?  Ha, hope springs eternal!

[cyclinglady]

My ferritin (iron stores) was a 2. I refused the transfusion even when my hemoglobin was at my lowest (7) and that is the number to be concerned about! Taking iron and going gluten-free improved my hemoglobin level fast and the iron stores continued to build for six months. That is when I stopped supplementation. Take that iron with Orange juice for better absorption. Old fashioned molasses is chock full of iron too. Of course, I do not know your situation, so do your research.

It is nice not to be out of breath anymore!

[murphy203]

It is nice not to be out of breath anymore!

 

YES!!!  This is exactly what drove me to see my doctor a few weeks ago.  Afterwards, I realized that I have every single symptom listed on Mayo's website for anemia.  I can't wait to feel better. My doctor did warn me that iron infusions are dangerous, which is why we are trying supplementation first.  My hemoglobin was "soaring" along at 8.4.  I don't feel like I am going to keel over half the time anymore, so maybe my anemia is improving.  I just want to have the energy to hop back on MY bike, cyclinglady -- that, and stay up past 7!!

[cyclinglady]

My anemia (iron-deficient) resolved in less than six months on a gluten-free. You will be fine! Keep eating gluten until all testing is complete though!

[nvsmom]

I hope the DGP tests give you a clear result, but remember, some celiacs are negative in blood work with positive biopsies and others may have positive blood work but a negative biopsy.  It is usually (although not always) best to assume one has celiac disease if they have a positive celiac disease test of any kind, including biopsy.

 

My son had an annual physical a few days ago and asked for the celiac panel all by himself -- go, kiddo!!  He actually used to see Dr. Fasano back in the day when he was a pediatric gastro at a nearby hospital -- son was equivocally positive with his blood tests but his biopsies were negative.  No recommendations to go gluten-free at that time, and we never re-tested for some reason.  He's 22 now -- it was probably about 6-8 years ago that he was tested.

 

 

So your son had positive blood tests for celiac disease but was not told to go gluten-free?  He has been eating gluten for the past 6-8 years?  Oh dear.  Doctors seem to do that to celiacs - keep them eating gluten until they are sick enough to get a really clear cut diagnosis.  In the meantime, the patient suffers...  I'm glad he is retesting, but if he has any symptoms, and his test results are not firmly all negative, he should go gluten-free and consider himself to be a celiac. You might want to make sure he knows all of the tests that he can ask for so his tests are as accurate as possible.

 

That being said, the tTG IgA can sometimes (<5% of all positives) produce a weak positive that is caused by another health issue, one of which is diabetes (T1).  The other health issues that can cause a slightly elevated tTG IgA (and by slightly I mean something like a 21 when 0-20 is normal) are thyroiditis, crohn's, colitis, chronic liver disease, and a serious infection.  I have Hashi's, and it took over 9 months for my tTG IgA to get to almost normal (from >200 to just under 21 when 0-20 was normal). I always assumed it was because of the Hashi's.

 

Good luck to you. I hope your anemia is improved by summertime! 

[murphy203]

Quick update: GI and PC have now both dxd me with celiac disease, so I am officially gluten-free. I have read and learned a whole lot from these forums. so I am gonna stick around! I consider myself asymptomatic for celiac disease, except for symptoms related to iron deficiency, so I am curious to see if removing glluten from my diet will reveal symptoms I don't even realize I have? We shall see!

Kitchen is cleaned, gluten-free staples are stocked, and I am ready! Even my puppy is going gluten-free! :-)

[nvsmom]

 Best wishes!

[murphy203]

THANKS! One last update on my diagnosis: Today, my GI ordered the DGP antibody tests, reordered HLA tests (there was a mixup on the original codes, so I still dont have results) and ordered a slew of nutrition tests. I do have an abnormality at a bile duct and will need another biopsy with different equipment, so that is scheduled in about 6 weeks with additional biopsies to see if the gluten-free diet is helping. Progress!

[nvsmom]

Progress is good.  

[BlessedMommy]

Even my puppy is going gluten-free! :-)

 

How wonderful! My kitty eats gluten free and he is SO healthy and has such a shiny coat of fur! I don't think that animals were ever designed to eat gluten to begin with.