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Confusing Diagnosis
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Hello -

I have tested positive for the Celiac gene. I have a laundry list of Celiac symptoms including chronic D, stomach pain, bloating, joint pain, neutropenia, psoriasis, sporadic cracks on the sides of my mouth, sporadic canker sores, tingling feet and hands etc etc. If I eat gluten, I feel absolutely awful immediately. Hands swell, fecal incontinence the next day, stomach pain, swollen hands, itchy skin and eyes etc. In 2004 I tested negative for Celiac on the non-genetic test and was told I have IBS. This month, I demanded the genetic test due to increased symptoms (and more research on my part). Between the negative non genetic test and the positive genetic test, I gave birth to three children and have experienced more than usual stress. My doctors (a hematologist for neutropenia, regular MD and GI all decided I needed an endoscopy to confirm the suspected Celiac. BTW - this would be my third endoscopy. I had two others in 2010 for an emergency food impaction and a retest because of raised eosinophils (that turned out negative upon second exam). I just recieved the results - NEGATIVE for Celiac. No real villi damage. My doctor said my villi looked "sandy" but not flat. I do not have anemia (just neutropenic and also low platelets) or low B12 so I am clearly able to absorb nutrients.

I am SO confused. I suppose the answer is to just go gluten-free? Possibly just latent Celiac? But what about all the zillion symptoms? Anyone have any advice?

Many thanks in advance!

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Were you gluten light or gluten free before testing? That will cause a negative result. How many biopsies did your doctor take? They should have taken around 6 or 7. I have never heard of 'sandy' appearing villi but your villi don't have to be completely flat for diagnosis. Do you have a copy of the results? If you do post them here as there are folks that can help interpret them.

It sounds like you react strongly to gluten. Keep in mind you don't need a doctor's permission to be gluten free and unfortuntely some of us will have negative test results but still react to gluten.

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Give me more information on....

the eosinophil count

any other notations on the condition of esophagus, small intestine, and top of stomach

Lab notations on # of biopsies, with results

the time of year symptoms become worse

time of year the indoscopies were preformed (did symptoms increase late summer early fall, when was the endoscopy preformed ~before or after a frost freeze?)

have you been keeping a food journal?

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Ravenwood is right, you can have celiac disease without passing a test for it. False negatives do happen, while false positives are rare. It is also possible to have a reaction to wheat that is not celiac disease but can cause similar symptoms. The article linked below talks about this newly identified condition.

http://Non-celiac wh...ists/Page1.html

Did you get a copy of your pathology report from the lab? There are varying levels of damage in celiac disease and they don't all look like totally flat villi. Totally flat villi is the worst damage level, there are intermediate stages between normal and the worst.

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Hello -

I have tested positive for the Celiac gene. I have a laundry list of Celiac symptoms including chronic D, stomach pain, bloating, joint pain, neutropenia, psoriasis, sporadic cracks on the sides of my mouth, sporadic canker sores, tingling feet and hands etc etc. If I eat gluten, I feel absolutely awful immediately. Hands swell, fecal incontinence the next day, stomach pain, swollen hands, itchy skin and eyes etc. In 2004 I tested negative for Celiac on the non-genetic test and was told I have IBS. This month, I demanded the genetic test due to increased symptoms (and more research on my part). Between the negative non genetic test and the positive genetic test, I gave birth to three children and have experienced more than usual stress. My doctors (a hematologist for neutropenia, regular MD and GI all decided I needed an endoscopy to confirm the suspected Celiac. BTW - this would be my third endoscopy. I had two others in 2010 for an emergency food impaction and a retest because of raised eosinophils (that turned out negative upon second exam). I just recieved the results - NEGATIVE for Celiac. No real villi damage. My doctor said my villi looked "sandy" but not flat. I do not have anemia (just neutropenic and also low platelets) or low B12 so I am clearly able to absorb nutrients.

I am SO confused. I suppose the answer is to just go gluten-free? Possibly just latent Celiac? But what about all the zillion symptoms? Anyone have any advice?

Many thanks in advance!

Have you had a recent Celiac blood panel done? Just because you were negative years ago does not mean that you stay negative. Those biopsy results sound suspicious to me. "Sandy"? Some docs won't dx Celiac unless the villi are totally flat, this is a common cause of falsely negative biopsies.

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Give me more information on....

the eosinophil count

any other notations on the condition of esophagus, small intestine, and top of stomach

Lab notations on # of biopsies, with results

the time of year symptoms become worse

time of year the indoscopies were preformed (did symptoms increase late summer early fall, when was the endoscopy preformed ~before or after a frost freeze?)

have you been keeping a food journal?

Hi there - I just picked up a copy of my results from my GI. Here they are:

Genetic test from Prometheus Lab:

Celiac Genes Detected:

Genotype: DQ2/other high risk gene

Increased Risk: 16X

Relative Risk: VERY HIGH

ENDO:

The duodenum was examined, and, while normal in appearance in many ways and while there appeared to be a villous pattern, there was a mildly gray discoloration to the mucosa because of a patchy white punctate appearance, as well as mild granular appearance.

Assessment and Recommendations:

The pateint has no marked abnormalities but there is a mild granular appearance to the duodenum. She has a history of chronic diarrhea that is unexplained, as well as neutropenia and thrombocytopenia. Autoimmune processes have been considered as a possibility of a hematological issue. She has had an extensive workup for the diarrhea with no diagnosis forthcoming.

FINAL DIAGNOSIS:

1. DUODENUM (BIOPSIES):

- No villous abnormality

-No enteritis/granulomas/microorganisms

-Morphologically normal

Microscopic exam:

1. Tissue includes through a layer of muscularis mucosae and nodules of submucosal Brunner glands and several oriented tall thin villi are represented. No increase in crypt regions or stromal mononuclear cells, no nuetrophils, and no granulomas. Columnar absorptive entercytes without inflammation and no surface organisms. Good quality biopsies and within normal limits, Six levels.

Gross Description:

1. Designated "duodenum" are FOUR tan tissue fragments ranging from 0.2x0.2x.15 cm to .35 x0.2 x0.2.

My GI wants to wait for my rheumatologist work up. Meanwhile, I went gluten-free anyway and have had NO diarreha. In general, I don't wat a lot of gluten since it makes me sick but now I am trying to be very mindful of where it lurks.

As far as the time of year - the endo was just performed. I live in LA so no frost freezes here. I was not keeping a food journal. My GI ruled out EE.

Thanks for taking the time to look at this!

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I don't think it would hurt your at all to try a gluten free diet. You may lack a formal diagnosis, but if you feel better and your symptoms clear up on one, they may take that into consideration and at least categorize you as non-celiac gluten intolerant.

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Update:

I went to a rhuematologist who ran a million tests. The only thing he found out of whack (besides my chronic neutropenia) was Vitamin D at level 25. As of Jan. 1, I decided to try going 100% gluten-free and lo and behold - I have ZERO GI problems. So whether or not my biopsy was conclusive or not, going gluten-free helps me a great deal. With the high likelihood genetically and the clearing of symptoms with no gluten, I am ready to diagnose myself as Celiac or non Celiac with gluten intolerance. Either way, gluten is not good for me so I am done with it.

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Sounds like a wise decision. The best of luck to you :)

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    • First, do you have celiac disease?  Have you recently had a celiac antibodies follow-up blood test panel to see if gluten has been actually getting into your diet by accident or through cross contamination?  If you haven't had the test, you should ask your doctor for one.  You could also also ask for a follow-up endoscopy to see if you intestines have truly healed.  This will rule out if gluten is really the problem.    If you don't have celiac, I assume you have Non-celiac gluten Intolerance because no one would stick to the gluten-free diet for six years unless you have had reductions in symptoms.  There is no test for NCGI unfortunately.  So, it is hard to say if gluten has been sneaking into your diet.  You really are going to have to try to figure out if you are getting gluten into your diet.  If gluten is not the problem, then your doctor needs to check you for other issues, like SIBO. There is a test to check for SIBO.  Has this been done?   Once a celiac, always a celiac.  There is no cure for celiac disease except to remain on a gluten free diet for life.  I am not sure about NCGI.  Not much research has been done.  Maybe others can chime in?    
    • I am so confused right now.... 6 years ago I went on gluten free diet... after being on it for the first yr I was 100%better up until 5 months ago in got the "flu" the doctors told me to cut out dairy sonic did and my diarrhea  became better but not completely gone would not have it every day tho. I went to the gi doctor and they said to cut out fructose and dairy and keep gluten out... yesterday I went to the dietitian to see what I can eat and she gave me the list for fructose... she said it should have been on a antibiotic for sibo.... eventually I will be able to add dairy back and maybe gluten.... I said how can I add gluten back when this was my first problem... she goes well through fructose goes hand in hand with it... I said with gluten I vomit and am sick for weeks.... fructose isn't that bad I vomit sometimes but I'm not sick for weeks.... I'm just confused on really what is going on and was wondering if you or someone you know had sibo from gluten and or fructose and how Is this all related?
    • I see no one has responded to your query.  Unfortunately I have yet to try making a pie crust.  It was something I never mastered before going gluten free.  Have you looked on Pinterest?  You might find something there.
    • I honestly feel like both doctors think it's all in my head even though there is proof.  Yeah there was a point when I felt crazy.  That was when I was being shuffled from dr to dr being given individual diagnoses of my problems.  None of those diagnoses ever made me get better.  Seriously I was diagnosed with heart palpitations, neurocardiogenic syncope, I was given a butt load of steroids because a dr felt like I was producing too much adrenaline, freaking had a few tell me I was depressed, and the good ol IBS.  It seemed most wanted to push pills.  It's all just ridiculous!
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