Biopsy Decision - Dr Said It Won't Be Negative If Truly Celiac

[KBart]

I'm trying to decide if we should go ahead with a biopsy for my 4.5 year old. Her symptoms are mild and she had a positive TGG but doctor suggested a biopsy. I asked her what would happen if there was a negative result but the bloodwork shows elevated TGG. She said the biopsy will show if there is celiac or not. If the biopsy comes back negative, then it is definitely not celiac. Does that sound accurate? Can't biopsies be negative and there still be celiac disease?

[nvsmom]

Your doctor is wrong. The sensitivity of the biopsy can be as low as 80% which means up to 20% of celiacs will have a false negative result.  The risks of getting a false negative are higher (closer to 20%) if the doctors take 4 or fewer samples (6+ is best), only sample from a small location rather than sampling widely and from the most commonly damaged spots, or the patient was not eating adequate gluten in the 2-4 weeks prior to biopsy.

 

A negative biopsy does not disprove a celiac disease diagnosis based on positive test results, it just does not support it.... It doesn't change the fact that she is positive for celiac disease.  The tTG IgA is very specific to celiac disease.  I think the specificity of the tTG IgA is around 95%.  If she had  a positive, she most likely has celiac disease.

 

Did she have the EMA IgA test done?  That one is 98-100% specific to celiac disease so if she gets a positive result, there can be no doubt it is celiac disease. The deaminated gliadin peptides tests are good for detecting celiac disease in young children and may also support the diagnosis.  Going gluten-free for 6 months and having a positive response to the gluten-free diet is also considered diagnostic.

 

Best wishes.  

[Galixie]

Biopsies are considered the gold standard for diagnosis. However, as nvsmom points out, biopsies could be taken from multiple locations and still miss the damaged section and thus give a negative result.

 

An endoscopy is an invasive procedure and I imagine it would seem especially scary to a four year old.

 

On the one hand, an endoscopy could definitively confirm the diagnosis of celiac and give some indication of the current level of damage. On the other hand, it might just cause greater confusion.

[nvsmom]

On the one hand, an endoscopy could definitively confirm the diagnosis of celiac and give some indication of the current level of damage. On the other hand, it might just cause greater confusion.

 

I skipped my biopsy for that reason.  I had a positive ttG IgA and EMA IgA, many symptoms, and relatives with celiac disease.  I felt certain I had celiac disease (and so did my doctor) so I skipped the biopsy.  I felt that I could always do it at a later date, while gluten-free, if I continued to have problems and they needed to take a look to see what was wrong.

[momtoagfkid]

I just wrestled with this decision last month.  I wanted a definitive diagnosis, but also knew there was a risk of a false negative biopsy.  In my research the rate of false negative of hugely variable and largely dependent on the person performing the biopsy and the person completing the pathology report.

We also knew regardless of the biopsy results we would go gluten free.

In the end we opted for the scope.  We had a pediatric GI who was very competent and experienced with celiac disease.  The lab was also really good and knew how to really look for celiac disease.  There were benefits to having a definitive diagnosis and we opted to try and get that.

In the end it came back positive, which did not change what we have done since then, but it does give us access to additional resources.  Plus it gives us the absolute confidence we need to make the changes we need to make in our home for our daughter's well being.

[cyclinglady]

I just wrestled with this decision last month.  I wanted a definitive diagnosis, but also knew there was a risk of a false negative biopsy.  In my research the rate of false negative of hugely variable and largely dependent on the person performing the biopsy and the person completing the pathology report.

We also knew regardless of the biopsy results we would go gluten free.

In the end we opted for the scope.  We had a pediatric GI who was very competent and experienced with celiac disease.  The lab was also really good and knew how to really look for celiac disease.  There were benefits to having a definitive diagnosis and we opted to try and get that.

In the end it came back positive, which did not change what we have done since then, but it does give us access to additional resources.  Plus it gives us the absolute confidence we need to make the changes we need to make in our home for our daughter's well being.

Welcome to the forum!

[KBart]

Thank you all for your replies. I keep going back and forth on the decision. But I'm still gathering information at this point.

[StephanieL]

We did the biopsy after a VERY hight ttg and it did in fact come back negative.  We were give 2 options (go gluten-free and watch the blood work or scope every 6 months indefinitely) by the top Celiac disease Dr. in the US.  

 

Fast forward 5 1/2 years and I wish we did have more clear/concert proof because of other inconsistent blood work and issues.  We went to actually see this top Dr. who wanted to have our kid go back on gluten and scope.  We were given that advice a year ago and every once in a while we'll talk about it and doing it but then we have had 3 other GI Dr's say there is nothing else it could be. 

 

I don't know if that's helpful or not but I just wanted to let you know our experience and let you know even when it seems clear cut, sometimes its not  

Hugs. FWIW my kid was 3 1/2 when he had his scope and it was 100000x harder on me and Dad!  He has NO recollection of it at all!

[momtoagfkid]

Welcome to the forum!

Thanks!  

[kerrygirl15]

Hi Kbart,

Sorry to hear about your daughter.A few years ago I was tested for celiac disease my bloods were positive and biopsy negative i was diagnosed with NHL lymphoma.I was tested a few months ago again and this time both my bloods and biopsy were positive for celiac,also an intestinal myeloid sarcoma was found and leukemia in bone marrow and spinal fluid. I wish I had gone gluten free a few years ago and maybe I wouldn't be so sick now.The doctors think that I had celiac disease for years.I think anyone who has positive bloods has celiac disease and needs to go gluten-free(my gastroenterologist says she should have put me on a gluten-free diet earlier).I hope I didn't scare you but I don't want your daughter to end up really sick in the future when maybe it can be stopped now.

Best of luck

[Chef Oonagh]

I'm based in NH and in Boston we have top celiac disease doctors at Beth Israel, Harvard and Mass General.  What they all seem to agree on from attending and my presenting at various Healthy Villi conferences (now NE Celiac org) is that knowledge about celiac disease and NCGS is changing all the time.  My son had an endoscopy 2008 after a University friend suggested it since my sons symptoms were same as friends and no previous symptoms prior to bad car accident.  At that time they only said gluten and lactose intolerant.  From what I've read they seem to say that when the damage is not that bad.  but it also seems to be said that only celiac disease actually causes damage to villi. Problem as someone else said is that endoscopy/biopsy is no longer the gold standard (according to Boston drs) and is also dependent on where samples were taken from, how many were taken, how they were positioned on slide and skill of reviewer.  I've since discovered family members with celiac disease and my son is celiac disease and dairy intolerant. My regular blood test was negative but I was cooking gluten-free for us all.  At a talk I gave on gfd a nurse told me she was only diagnosed with celiac disease when her 2 little ones had anaphylactic reactions.  She went totally gluten-free and within 2 period cycles her period pains and neurological problems went away.  I went 100% gluten-free (I was still eating wheat bread and cereal) and my period pains and arthritis pains disappeared. But as a chef and food writer I would cheat by tasting a spoonful of a dessert, stealing a french fry.  Last year when I spoke at 40th annual GIG conference, someone said that if I had celiac disease I was damaging myself by cheating.  OF course I knew that, but blood test said not gluten intolerant.  Low and behold, following month cbc for annual physical, positive results for genetic dna celiac disease test and was told that with how sensitive I was, I should not start eating gluten again just to let doctors prove it to themselves with endoscopy. Unfortunately with media hype, you get more credibiity saying you have celiac disease rather than just gluten intolerant. Stats say 2-3% of population medically need gfd but food industry stats say 18% are requesting gfd, due to media saying it's healthier, weight loss etc. Top doctors say it is a cruel and unusual punishment to go gluten-free until we've proved it to you, but if your body feels better on gfd!.  I certainly get immediate reactions to cross contamination by gluten. I also say that to me the only difference between celiac disease and ncgs is that celiac disease is an auto immune disorder and can have serious consequences including cancer if not dealt with.  But people with ncgs can feel worse than someone else with celiac disease.  Everyone is different. Keep calm and eat gluten free.

[KBart]

Thank you all for your help. It is great to hear other experiences. As common as gluten intolerance or just people who feel better off gluten is, and I have 5 close friends who are gluten-free, no one has celiac disease. So finding real life experience is hard.

We're leaning toward having the biopsy done. If she's celiac disease, I want to try and get the proper diagnoses for school, camp, etc issues in the future. I think it will be very important. I also want to be sure she needs to be gluten-free for life. It is a big commitment and I think the diagnosis will help me ensure we become a gluten-free household for her safety and health.

[nvsmom]

Just remember, if the biopsy is negative, it does not mean that she does not have celiac disease.  It just means they didn't find the damage.

[KBart]

I spoke with the doctor a little more and she will take 6 biopsies. 4 from the intestine and 2 from the bulb. Is this standard practice? Is there really any way to convince a doctor to take more? Is more necessary?

[cyclinglady]

That sounds like plenty based on my research.

Open Original Shared Link

Open Original Shared Link

[nvsmom]

That sounds pretty good to me, but I am not the most knowledgeable person around here about this.

 

I did see this and it seems to support your doctor's approach: Open Original Shared Link

 

More biopsies taken increase the likelihood of catching the disease, but not many doctors will do more than 6.  I think 8 is the high end of what we usually hear about.  Most doctors do 6 or less; sadly 4 or less isn't uncommon either.

[Chef Oonagh]

These are the links to the updated site at Beth Isreal Deaconess Celiac Dept in Boston and explanation of endoscopy and number of samples taken.

 

 

Open Original Shared Link

Open Original Shared Link

 

"After careful inspection of the tissue of your small intestine, multiple biopsies two biopsies
from the duodenal bulb and at least six biopsies from the second portion of the duodenum )
will be obtained, using biopsy forceps"