Why Do A Biopsy?

[mshistory]

Hi all - I'm new to the forum. We just received my 5 year old daughter's lab work yesterday and she tested positive for the transglutaminase antibodies, IGA - it was very high (54 with a negative value being less than 8). The gliadin AB was also positive. Given that she's also symptomatic, this seems to me to be enough confirmation that she has celiac disease and we are eliminating gluten from her diet (and eventually the family's - but I'm undergoing testing too so can't go gluten-free yet).

I have a connective tissue disease that has a fairly high correlation with celiac disease (about 16% of people with Sjogren's have celiac disease) and I also have symptoms, so I know there's a family history of autoimmune disease, and one that frequently co-occurs with celiac disease. I was diagnosed with Sjogren's based on positive lab work, but like celiac disease, the gold-standard for diagnosis is a positive salivary gland biopsy. Given the extremely high levels of antibodies I have and my numerous extraglandular symptoms, I would never agree to a lip biopsy, so I am wondering why the need for a small bowel biopsy if a patient has positive blood work and is symptomatic?

Since Sjogren's is a systemic disease, I am on medication for the rest of my life. I guess my main concern is if there is ever a medical treatment for celiac disease, she may be denied access to it because she *only* had the blood work and symptoms...

The lab work was ordered by a pediatric rheumatologist (her ANA was also positive but I'm praying that's just because mine is always sky high and not because she has another autoimmune disease) and we can't get in to see a pediatric gastroenterologist until late June... that's too long for me to have to wait feeling 99.99% sure I can help my daughter feel better by changing her diet now!!

Has anybody else chosen not to have the biopsy for their child? Is there a really compelling reason to do it?

Thanks for any advice

[pricklypear1971]

This might help: Open Original Shared Link

It's the new pediatric dx guideline put out last year. I don't know if she meets all the criteria for dx without biopsy but go through it and see.

[mshistory]

This might help: Open Original Shared Link

It's the new pediatric dx guideline put out last year. I don't know if she meets all the criteria for dx without biopsy but go through it and see.

Thank you pricklypear - that must be the Prometheus Serology, which my insurance doesn't cover That's what my rheumatologist tried to order for me but all of my lab work has to go through a particular lab in order to be covered... how silly, since I'm sure the blood test would be cheaper than the biopsy!

[mshistory]

Oh, a question about the revised guidelines - if she goes gluten free now, would that affect the genetic testing she hasn't had? I wouldn't think so if it's a test for specific genes, but want to make sure in case her doctor wants to order it in the future.

Thanks!

[pricklypear1971]

No, the guidelines are not for a specific lab. They are for dx'ing Celiac disease. Many labs can run the same tests.

She does not have to be on gluten for DNA testing; however, she does need to be on gluten for an accurate biopsy.

[Cara in Boston]

Some doctors won't diagnose without a positive biopsy.

My doctor diagnosed me based on my symptoms and blood test results (my son was just being diagnosed too, so that was another clue) but recommended the biopsy so he could assess the damage and monitor my healing. I guess sometimes it is hard to know if the gluten-free diet is working? He needed a "starting point" in case there we any future biopsies needed.

In any case, my biopsy came back negative so he CHANGED the diagnosis to "gluten intolerant" - which is really quite silly. My son has (biopsy proven) celiac, I had all the classic symptoms, positive blood test, and great results with the diet. In any case, I don't need the "official" diagnosis - treatment is the same, gluten free for life.

I did, however, want a clear, undisputed diagnosis for my son. Since he was only 5 at the time, I didn't want there to be any doubt, ever, about his need to stick to the diet. While we haven't had any obstacles yet, I don't know what kinds of accommodations we might need in the future (summer camps, high school, college dorms, military?, who knows) and going back on gluten at a later date just to be retested didn't sound like a good idea.

You would be surprised how many people don't believe that gluten intolerance is such a big deal. Having some proof of actual damage (not just behavior changes, subtle mood changes, etc.) helped us convince the "non-believers" (mother-in-law, etc.) that my son can never cheat or "take a break" from his diet.

Cara

[StephanieL]

If you ever want something like a 504 plan for your child for accommodations in school, you will need a DX from a Dr. If you have a Dr. willing to dx based on the above or other things (an already + parent or sib in some cases) great! Some are willing to look at the obvious while some are not.