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Confusing Diagnosis

luckyald

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luckyald Newbie
luckyald
Posted

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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ravenwoodglass Mentor
ravenwoodglass
Posted

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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mommida Enthusiast
mommida
Posted

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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GFinDC Veteran
GFinDC
Posted

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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pain*in*my*gut Apprentice
pain*in*my*gut
Posted

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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luckyald Newbie
luckyald
  • Author
Posted

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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Takala Enthusiast
Takala
Posted

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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  • 2 weeks later...
luckyald Newbie
luckyald
  • Author
Posted

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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mushroom Proficient
mushroom
Posted

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

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      Waiting for urgent referral.

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      Wow! Fascinating info. Thanks so much! I really appreciate the guidance. @Spacepanther Over the years I have had rheumatologists do full lab work ups on me. They told me they had screened me for arthritis, lupus, and Lyme disease (all negative). In addition to joint pain and stiffness I had swelling in both knees that later moved to my elbow as well.  I also experience stiffness and pain in my neck and shoulders when it flares. I vomited fairly often growing up, but there wasn’t a real pattern to it and I didn’t know it wasn’t normal (thought people caught stomach viruses often).  I don’t usually have stomach symptoms immediately after eating gluten that I notice.  The only other joint condition I know of is fibromyalgia. Good luck! Hope you can get it figured out. I only assumed my joint symptoms were due to the celiac’s because it is under control for the most part on a gluten-free diet.  The rheumatologist also mentioned that some inflammatory/autoimmune diseases can be slow-moving and not detectable until they progress.
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      @Spacepanther, I found these articles about the connection between Celiac and joint pain. Musculoskeletal Complications of Celiac Disease: A Case-Based Review https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10201087/ And   Intestinal microbiome composition and its relation to joint pain and inflammation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814863/ And The gut microbiome-joint connection: implications in osteoarthritis https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6903327/ Sounds like it's time to change the diet to change the microbiome.
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