Positive Biopsy, But Negative Genetics?!

[mmm1017]

Oh, please, please help. I had an EGI done in September that showed the cracked river bed appearance, scalloping, and the biopsy turned up atrophy of the villi. My GI then ordered the Prometheus genetic tests, which just came back negative. She called to tell me that I definitely DO NOT have Celiac Disease, just IBS with gluten intolerance. I asked her about the atrophy to the villi. She said a virus can cause it? She said it was good news because I could have a slice of cake if I wanted to. I told her that I baked a cake for my husband and ended up extremely nauseous, even though I didn't eat any. I was even diligent about washing my hands and the kitchen surfaces. I am very confused. She went on to say that she and the rest of the medical community agree that the genetic test is conclusive because it is 99.9% accurate. At the end of our 15 minute phone conversation, she said it was possible I was in that .1%. I am really confused. Where on earth do I go from here?

[ravenwoodglass]

Your celiac and your doctor is misinformed (as most are) about how many of us don't have one of those 2 genes. We have a lot to learn about the genetics of celiac but we do know that there are celiacs without one of those 2 associated genes. I am one of them.

Do stay strict with the diet as the result of 'cheating' is liable to make you very ill. It would also be a good idea to not use gluten flours in your home. If your family uses gluten baked goods get them premade and do keep your stuff safe if you have a mixed household.

[The Horticulturalist]

Oh, please, please help. I had an EGI done in September that showed the cracked river bed appearance, scalloping, and the biopsy turned up atrophy of the villi. My GI then ordered the Prometheus genetic tests, which just came back negative. She called to tell me that I definitely DO NOT have Celiac Disease, just IBS with gluten intolerance. I asked her about the atrophy to the villi. She said a virus can cause it? She said it was good news because I could have a slice of cake if I wanted to. I told her that I baked a cake for my husband and ended up extremely nauseous, even though I didn't eat any. I was even diligent about washing my hands and the kitchen surfaces. I am very confused. She went on to say that she and the rest of the medical community agree that the genetic test is conclusive because it is 99.9% accurate. At the end of our 15 minute phone conversation, she said it was possible I was in that .1%. I am really confused. Where on earth do I go from here?

Did you have other celiac bloodwork done, and if yes what did it say? I would ask for a review of all your notes and biopsy slides from another gastroenterologist, preferably one more knowledgeable in the diagnosis of celiac disease, perhaps at one of the celiac centers.

[pricklypear1971]

Get a copy of the genetic test and look up the reported genes.

My test said negative if you read the short version - while still having a half celiac gene, plus 2 more that are suspect (meaning someone is researching them and associating them, they just aren't the most common in the west). Basically, I'm dq2 and 8 and 9 positive. Just not in full Celiac gene format.

Post the results here, we'll help!

[mmm1017]

My endocrinologist ordered a saliva test to check for gliadin antibodies among other things. He was the one who found that I had hypothyroid issues after all the other doctors had just written me off as having fibromyalgia and attributing anything that came up as being a symptom of that. The SIgA test was positive with a value of 31 U/ml. Borderline: 13-15 U/ml Positive: >15. From Diagnos-Techs, Inc. "Patient shows moderate to severe intolerance or reactivity to Gliadin and is usually symptomatic with ongoing low to high-grade intestinal inflammation following Gliadin intake has been demonstrated."

My endocrinologist is of the alternative sort and told me to avoid gliadin containing grains forever. We discussed the hoops and possible timeline of a Celiac diagnosis, but I was so severely sick and desperate to feel better, I cut out grains. After a month, my baby was having issues with weight gain and I realized I needed a diagnosis for my childrens' sake.

I took a copy of this test to the GI on my first visit and it was dismissed as a test she'd never heard of. Fine, okay. She looked at my medical history and was pretty sure I had celiac disease. She asked me to gorge on bread for the next 2 weeks, then go in for the bloodwork and have the biopsy (same day).

These are the results of the bloodwork:

Tissue Transglutaminase Antibody, IGA <3 Negative

Immunoglobulin A 127 In Range

Sed Rate by Modified

Westergreen 1

C-Reactive Protein <0.10

So, we have a positive gliadin antibody test, negative bloodwork, positive biopsy, and negative genetics. Any opinions would be GREATLY appreciated. I am VERY stressed. I was relieved when we had an answer to the symptoms that have plagued me since childhood. Now...

[Roda]

I would consider yourself diagnosed. There are many that have negative blood work and positive biopsy. This is one of the main reasons that I won't have the genetic tests done. I am firmly diagnosed from blood work and biopsy and I don't need some jerk coming back and telling me I don't have celiac because I'm negative on the genes. There is no point on doing the genetic tests on my oldest son because he is not celiac according to all the testing we have done. He is gluten intolerent though. I may consider genetic testing on my youngest son (private testing only) since it may be helpful to get the "official" diagnosis for him. He had a positive IgA tTG and symptoms, so I put him gluten free without a scope/biopsy. Upon gluten reintroduction he was a mess. So I know he has celiac and the genetics "may" help us there.

[mmm1017]

Get a copy of the genetic test and look up the reported genes.

My test said negative if you read the short version - while still having a half celiac gene, plus 2 more that are suspect (meaning someone is researching them and associating them, they just aren't the most common in the west). Basically, I'm dq2 and 8 and 9 positive. Just not in full Celiac gene format.

Post the results here, we'll help!

That would be an interesting thing to have. I have an appointment in 2 weeks, but I'm going to ask them to fax it to me.

[Takala]

where on earth do I go from here ?

I would go to the health food store and grocery shop for gluten free ingredients, then to the Baking Forum farther down on the forum homepage, and start researching how to bake gluten free cakes.

They've done blood tests on me, and told me that I didn't have my arthritis, sjogren's, celiac/gluten intolerance, nerve damage, etc. It is truly amazing how downright awful they can be with running a blood test, and ignoring the physical, visual appearance of various body parts, at least before they get the x rays or detailed scans back.

Post the genetic tests when you get them, but basically, ignore the bad advice about being able to eat regular food, and don't eat what makes you feel sick.