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Confusing Diagnosis


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#1 luckyald

 
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Posted 27 December 2012 - 11:07 PM

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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#2 ravenwoodglass

 
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Posted 28 December 2012 - 05:48 AM

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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Courage does not always roar, sometimes courage is the quiet voice at the end of the day saying
"I will try again tommorrow" (Mary Anne Radmacher)


celiac 49 years - Misdiagnosed for 45
Blood tested and repeatedly negative
Diagnosed by Allergist with elimination diet and diagnosis confirmed by GI in 2002
Misdiagnoses for 15 years were IBS-D, ataxia, migraines, anxiety, depression, fibromyalgia, parathesias, arthritis, livedo reticularis, hairloss, premature menopause, osteoporosis, kidney damage, diverticulosis, prediabetes and ulcers, dermatitis herpeformis
All bold resoved or went into remission with proper diagnosis of Celiac November 2002
Some residual nerve damage remains as of 2006- this has continued to resolve after eliminating soy in 2007

Mother died of celiac related cancer at 56
Twin brother died as a result of autoimmune liver destruction at age 15

Children 2 with Ulcers, GERD, Depression, , 1 with DH, 1 with severe growth stunting (male adult 5 feet)both finally diagnosed Celiac through blood testing and 1 with endo 6 months after Mom


Positive to Soy and Casien also Aug 2007

Gluten Sensitivity Gene Test Aug 2007
HLA-DQB1 Molecular analysis, Allele 1 0303

HLA-DQB1 Molecular analysis, Allele 2 0303

Serologic equivalent: HLA-DQ 3,3 (Subtype 9,9)

#3 mommida

 
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Posted 28 December 2012 - 07:48 AM

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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Michigan

#4 GFinDC

 
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Posted 28 December 2012 - 07:51 AM

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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Proverbs 25:16 "Hast thou found honey? eat so much as is sufficient for thee, lest thou be filled therewith, and vomit it."
Job 30:27 My bowels boiled, and rested not: the days of affliction prevented me.
Thyroid cyst and nodules, Lactose / casein intolerant. Diet positive, gene test pos, symptoms confirmed by Dr-head. My current bad list is: gluten, dairy, sulfites, coffee (the devil's brew), tea, Bug's Bunnies carrots, garbanzo beans of pain, soy- no joy, terrible turnips, tomatoes, peppers, potatoes, and hard work. have a good day! :-) Paul

#5 pain*in*my*gut

 
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Posted 29 December 2012 - 05:43 PM

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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Celiac DX 9/2011 ~ Gluten free ever since
Hashimoto's Thyroiditis 10/2011
Premature Ovarian Failure 11/2010
Rheumatoid Arthritis 10/2011
Sjogren's Disease 10/2011

"The best way out is always through" ~Robert Frost

#6 luckyald

 
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Posted 04 January 2013 - 01:08 PM

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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#7 Takala

 
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Posted 04 January 2013 - 07:48 PM

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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#8 luckyald

 
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Posted 15 January 2013 - 02:54 PM

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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#9 mushroom

 
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Posted 15 January 2013 - 03:13 PM

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


"Everything that can be counted does not necessarily count; everything that counts cannot necessarily be counted." - Albert Einstein

"Life is not weathering the storm; it is learning to dance in the rain"

"Whatever the question, the answer is always chocolate." Nigella Lawson

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Caffeine free 1973
Lactose free 1990
(Mis)diagnosed IBS, fibromyalgia '80's and '90's
Diagnosed psoriatic arthritis 2004
Self-diagnosed gluten intolerant, gluten-free Nov. 2007
Soy free March 2008
Nightshade free Feb 2009
Citric acid free June 2009
Potato starch free July 2009
(Totally) corn free Nov. 2009
Legume free March 2010
Now tolerant of lactose

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