Daughters Test Results- Celiacs?

[shrty331]

My daughter had a biopsy done and the results say:

Duodenum, bulb, mucosal biopsy

-moderate infiltration of surface epithilium by lymphocytes and focal damage to epithelial cells.

-Focal infiltration of surface and lamina propria by neutrophils.

NOTE. the doudenal bulb sections show normal architecture but are inflamed. No clinical information was provided so clinical correlation by the endoscopist is required.

She also tested positive for Endomysial IGA. And her stomaches have lessened with a gluten free diet.

Is that enough to say Celiacs? Her doctor says no. She wants to give her omeprazole for a month and repeat the biopsy in three months with my daughter returning to a gluten full diet next month. I don't want her to have to go through all this again.

[Takala]

Is this the same gasto doc as also did not diagnose your six year old son ?

[MitziG]

Your doctor is a dope. She has celiac, it just hasn't done severe damage to the villi yet, or the doctor didn't take enough biopsy samples. With positive EMA alone she should be diagnosed, and the biopsy is really more of a formality. It clearly shows celiac activity in the early stages. I would NOT do omeprazole- it caused a lot of problems for my little guy when he was on it prior to being dx. I would go gluten-free and see if the doctor will dx based on bloodwork and a positive response to the diet. Plus- being gluten-free should make the ema test negative down the road, which will also be proof.

[shrty331]

Is this the same gasto doc as also did not diagnose your six year old son ?

Yep... same doctor. The sons new doctor says he could be gluten intolerant, so he's been gluten free for the past few weeks. I am going to make an appt for my daughter with the new doc now that I know I'm not crazy for thinking the doctor is wrong.

[shrty331]

Your doctor is a dope. She has celiac, it just hasn't done severe damage to the villi yet, or the doctor didn't take enough biopsy samples. With positive EMA alone she should be diagnosed, and the biopsy is really more of a formality. It clearly shows celiac activity in the early stages. I would NOT do omeprazole- it caused a lot of problems for my little guy when he was on it prior to being dx. I would go gluten-free and see if the doctor will dx based on bloodwork and a positive response to the diet. Plus- being gluten-free should make the ema test negative down the road, which will also be proof.

Thank you for your response. I am making an appt with my sons gastro before we start the drug or change her diet. She has had a good response to being gluten free for the past few weeks. Was really dreading having to gluten her on purpose. I feel better hearing from someone else that it is probably celiacs.

[shrty331]

Ok, so wanted to add an update and see what everyone thinks now.... She saw my son's gastro, who asked us to send her pathology to his hospital to review. They reviewed it and the report says:

"Duodenum, bulb, biopsy:

Benign small intestinal mucosa with moderate villous flattening and mild to moderate epithelial inflammation. (See comment)

Comment:

The epithial inflammation consists of mild to moderate increase in lymphocytes, together with focal neutrophils. Changes seen could represent nospecific duodenitis, but also could be consistent with mild to moderate celiac sprue in the appropriate clinical/serologic setting. "

She also had the genetic test done and her results are:

HLA-DQ2 Negative

HLA-DQ8 Negative

HLA-DQA1* 02

HLA-DQA1* 04

HLA-DQB1* 0202

HLA-DQB1* 0402

The doctor seemed to really be leaning towards Celiacs when he got the biopsy because she also had elevated antibodies and a good response to the diet, but is now saying it's definitely not Celiacs because she lacks the gene... She is gluten free already and has been for a few months now and is feeling much better. Not sure if I should continue fighting to get the diagnosis, or just move on and stick with Gluten Intolerance.

Thanks for your time!

[GottaSki]

Much of the information out there says that the difference between Gluten Intolerance and Celiac Disease is the type of damage done to the small intestine by gluten.

Your daughter's damage sure sounds like Celiac Disease to me - yet it is confusing that she doesn't have the genes for Celiac Disease - hmm

Is there a reason you need to have a firm Celiac Dx? If she has improved on gluten-free diet, has antibodies and has confirmed damage to her intestine, isn't that enough to stay gluten-free?

[sa1937]

Ok, so wanted to add an update and see what everyone thinks now.... She saw my son's gastro, who asked us to send her pathology to his hospital to review. They reviewed it and the report says:

"Duodenum, bulb, biopsy:

Benign small intestinal mucosa with moderate villous flattening and mild to moderate epithelial inflammation. (See comment)

Comment:

The epithial inflammation consists of mild to moderate increase in lymphocytes, together with focal neutrophils. Changes seen could represent nospecific duodenitis, but also could be consistent with mild to moderate celiac sprue in the appropriate clinical/serologic setting. "

She also had the genetic test done and her results are:

HLA-DQ2 Negative

HLA-DQ8 Negative

HLA-DQA1* 02

HLA-DQA1* 04

HLA-DQB1* 0202

HLA-DQB1* 0402

The doctor seemed to really be leaning towards Celiacs when he got the biopsy because she also had elevated antibodies and a good response to the diet, but is now saying it's definitely not Celiacs because she lacks the gene... She is gluten free already and has been for a few months now and is feeling much better. Not sure if I should continue fighting to get the diagnosis, or just move on and stick with Gluten Intolerance.

Thanks for your time!

Your doctor is just plain wrong and is putting the gene tests above the results of the biopsy. Your daughter has celiac so definitely keep her gluten-free.

Any possibility you can find another doctor? I certainly wouldn't trust this one.

(I bolded the comments in the biopsy report that confirm celiac.)

[MitziG]

Yep, doc isn't clued into the latest info. The "usual" celiac genes are not the ONLY ones responsible for celiac. You can have celiac without them. The positive antibodies + biopsy= celiac. Period.

[sa1937]

I might also add that a number of us here (myself included) are blood and biopsy confirmed as having celiac...yet we have no clue what genes we have.

[justlisa]

Personally, I believe that some day they're going to "discover" that the "required" genes are nothing more than genes which show a predisposition to celiac... I, also, believe that far more people are not dx because of this...folks who never "find out" what's wrong with them.

The tests, imo, are just not good enough... It's like the scientific community just accepted these methods and stopped looking to improve upon them.

Also (probably 100 years from now), I believe they just might figure out that systemic inflammation and autoimmune responses are responsible for a whole host of new symptoms/diseases (hypertension, diabetes, etc, etc, etc)...

Just my gut feeling (pun intended)...

[sa1937]

Even today the gene tests are not at all diagnostic. There are people with the genes who do not get celiac although there's certainly a predisposition which may never be triggered. There is so much more to learn.

[shrty331]

Much of the information out there says that the difference between Gluten Intolerance and Celiac Disease is the type of damage done to the small intestine by gluten.

Your daughter's damage sure sounds like Celiac Disease to me - yet it is confusing that she doesn't have the genes for Celiac Disease - hmm

Is there a reason you need to have a firm Celiac Dx? If she has improved on gluten-free diet, has antibodies and has confirmed damage to her intestine, isn't that enough to stay gluten-free?

We don't really need the Dx, I just feel like she has it, we've had all the tests and I just need someone with MD after their name to look at all of the results and say "Yep, It's Celiac."

She is going to remain gluten free. Even at 9 she knows if she eats gluten it's going to hurt. I just feel like people take your reaction to gluten more seriously if you have Celiacs as appose to a Gluten Intolerance.

[sa1937]

We don't really need the Dx, I just feel like she has it, we've had all the tests and I just need someone with MD after their name to look at all of the results and say "Yep, It's Celiac."

She is going to remain gluten free. Even at 9 she knows if she eats gluten it's going to hurt. I just feel like people take your reaction to gluten more seriously if you have Celiacs as appose to a Gluten Intolerance.

I think I'd just tell people she has celiac, which according to the biopsy she does even though the doctor disagrees. Is anyone really going to ask for proof?

[GottaSki]

I agree - I'd feel comfortable saying she has Celiac Disease based on the results of the endo alone -- but she also had antibodies and improved on gluten-free diet.

If it becomes an issue in the future you could take her current results to another doctor to acquire a diagnosis. My adult daughter was diagnosed by symptom improvement from diet only after I was diagnosed -- you have far better data for a diagnosis.