Positive biopsy, negative bloodwork

[Anxiety4lyfe]

I received an endoscopy for GERD related symptoms and turns out my biopsies came back positive for celiac. My doctor ordered follow up bloodwork (I assumed a full panel) but it was just the genetic testing, not the ttg iga. My genetic testing came back negative. I decided to try gluten-free anyways and have had much fewer GI symptoms (previously was constant bloating and frequent diarrhea, now I have no bloating and have not had diarrhea at all). My doctor told me I DO NOT have celiac but I’m confused why my biopsy was positive, bloodwork negative meaning I don’t have it, and I feel better eating gluten-free… send help

[trents]

Welcome to the forum Anxiety4lyfe!

It is not all that uncommon for the antibody bloodwork to be negative while the biopsy is positive. The biopsy is the diagnostic gold standard for celiac disease. So, I'm baffled that your doctor would declare that you do not have celiac disease. There are a few fairly rare non celiac explanations for blunted villi like long term NSAID therapy, some tropical parasitic infections and an intolerance of the dairy protein casein. But by far the most likely explanation is celiac disease. 

You say you are assuming the doc ran a full celiac panel. If I were you I would confirm that. Many or most docs will only order the tTG-IGA test.

Edited November 18, 2021 by trents

[ravenwoodglass]

5 hours ago, Anxiety4lyfe said:

I received an endoscopy for GERD related symptoms and turns out my biopsies came back positive for celiac. My doctor ordered follow up bloodwork (I assumed a full panel) but it was just the genetic testing, not the ttg iga. My genetic testing came back negative. I decided to try gluten-free anyways and have had much fewer GI symptoms (previously was constant bloating and frequent diarrhea, now I have no bloating and have not had diarrhea at all). My doctor told me I DO NOT have celiac but I’m confused why my biopsy was positive, bloodwork negative meaning I don’t have it, and I feel better eating gluten-free… send help

Your circumstance is why I wish doctors wouldn't use gene tests for diagnosis. Your doctor should have done a celiac panel first or with the gene tests. I am very thankful I was diagnosed before they started gene testing as if they had tested mine I would have heard the same as you did. I would have died years ago instead of being diagnosed correctly and having the chance to heal. There are more genes involved with celiac than just the two for which they typically test. Perhaps you have one of the odd ball genes like I do.  It sounds like you are recovering on the diet and at this point you have a choice to make. You can start eating gluten again for 6 weeks or so and then get a full celiac panel done or you can go with your bodies reaction to the diet (and the pain of the inevitable glutening) and just stay on the diet.

[trents]

^What Ravenwoodglass said.^

Years ago researchers identified two genes that are associated with celiac disease. Recently, they identified a possible third one. And who knows if there are still more than that? The human genome contains many interrelated parts and to assign one or two genes as responsible for this or that may be too reductionistic sometimes. And what used to be called "junk DNA" (supposedly non functional vestiges thought to be carried over from earlier stages of evolution) is now being debunked as research is showing it is indeed functional.

Edited November 18, 2021 by trents

[Scott Adams]

I agree that on the genetic side, new research continues to find new genetic markers associated with celiac disease, for example this new article:

 

[Jacky Bender]

Hi I am new to this group. I went to see a dermatologist to have a couple of moles removed on my back. She noticed the awful rash on my arm and said it looked as if I was celiac. Took a biopsy which came back 'Dermatitis Herpetiformis'. I was told to give up gluten and have diagnosis confirmed with a blood test. That came back negative for celiac. I would like  have the blood test re-done as from m research it wasn't done properly I have been COMPLETELY avoiding gluten for over 2 month and don't want to go back on gluten inorder to redo the blood test. Help me !

[trents]

Jacky Bender, welcome to the forum!

Currently, there are no tests to diagnose celiac disease that will give valid results if someone has already begun the gluten free lifestyle. 

Having said that, a positive diagnosis of DH is definite proof that you have celiac disease. There are no other medical conditions that cause DH besides celiac disease.