It started with 23&Me..

[Tracy A]

Hi Everyone,  I'm new to this forum and am in full on digital forensics mode and thought I would share. 2019 I did 23&Me and it came back showing that I had the HLA-DQB1 gene. (There was a disclaimer saying this does not diagnose celiac disease) But it got me to thinking of the problems I had in the past. I'm 49 and started reaching out to Dr's in my 20's because I was always constipated and had stomach pains. At the time they diagnosed me with IBS and gave me some medication to tone down intestinal spasms. Needless to say I didn't continue with it because it always made me feel groggy. So throughout the years I've dealt with constipation, bloating, gas pains etc and got used to it. In 2016 I thought I'd visit the Wheat/Gluten thing as that was becoming more prevalent. I did a food allergy blood test panel and everything came back negative (Wheat negative etc) so I tabled it again.

Fast Forward to 2023 at the age of 49 I've been getting into having my hormones tested which turned into lets also get a GI Gut test done by Genova. I wasn't sure what we would find but I figured since I was in self awareness mode I'd get it done.  Well it just came back and it showed I had off the charts inflammation.  Genova highlights were: Fecal secretory IgA >7500 Beta-glucuronidase | Beta-glucuronidase 22,500 H | Calprotectin 97H | Infection - Negative | Maldigestion - Negative.  Obviously there's a lot more but these are the highlights in a Nutshell.  So, this got me to thinking back to my 23&Me which I didn't give much attention to the HLA-DQB1 as every time I googled it,  is said, there are two genes for celiac disease. These genes are called human leukocyte antigen (HLA) DQ2 and DQ8.

At any rate I had my follow appt to go over my Genova gut test and she suggested I get a Colonoscopy and also the Celiac Blood Test panel.  I can't get in for a Colonoscopy for several months but had my blood test yesterday.  I believe the results take about 2 wks. I guess I'm anxious and am curious if anyone else had a similar experience. I'm thinking it's Celiac but also wanted to see what others thought.  I would start cutting out Gluten but my Colonoscopy isn't until July and they say not to make any changes to your diet which is frustrating.  

 

 

[trents]

Hi, Tracy A and welcome to the forum!

In general terms, many celiacs have shared your experience in that they have been misdiagnosed for years. It has often been said on this forum that it commonly takes 10 years or more to get a celiac diagosis once symptoms set in. Usually, we are diagnosed with other bowel diseases first like IBS or Crohns. Many doctors are operating on outdated statistics as to the frequency of celiac disease in the population and on outdated information about the range of symptoms that are commonly experienced by the celiac community.

Let me correct one misconception you evidence from your post. A colonoscopy (aka, "lower GI") cannot be used to diagnose celiac disease. Celiac disease manifests itself in the small bowel (duodenum and the duodenum bulb) where it damages the villi that line that area of the intestines. Actually an endoscopy (aka, "upper GI") is used for diagnosing celiac disease. You can't get a scope of high enough from the bottom end to check the small bowel condition so they come in from the mouth, through the stomach and into the small bowel.

HLA DQ2 And HLA DQ8 have historically been tied to celiac disease and more recently, I believe, HLA DQ6. But, it is likely that more, yet to be discovered genes, come into play and in time will be identified.

Your symptoms are classic for celiac disease but also you could be looking at NCGS (Non Celiac Gluten Sensitivity). My guess would be celiac disease. You will know soon.

 

[Scott Adams]

Welcome to the forum!

I'm sorry to hear about the issues you've dealt with over the years, and all of your symptoms could definitely be related to undiagnosed celiac disease and/or non-celiac gluten sensitivity (no tests for this yet), especially if you have a genetic marker for celiac disease.

Unfortunately allergy tests would not work to diagnose celiac disease, and you need to do a celiac disease blood panel for that, and keep eating gluten daily until all tests are completed. Perhaps you could get the blood test ASAP? There are mail order blood test options https://imaware.health for ~$100.

A colonoscopy also won't diagnose celiac disease, which is done via an endoscopy, so perhaps you could get this added to your colonoscopy exam?

More info about celiac disease testing is at:

 

[Tracy A]

Well thanks everyone! I just learned something new. My NP just referred me to a GI specialist and I just assumed they would do a Colonoscopy so thank you! Only frustrating thing is that the GI's in my area are like several months out to get in! It's crazy.

[trents]

Yes, I think the "way out there" scheduling issues are pretty common everywhere nowadays. Let me offer a partial solution to you. But first I need to explain how celiac disease works so that my explanation will make sense.

Celiac disease (or "celiac disease" for short) is not an allergy, as Scott pointed out. It is an autoimmune disease. That means the body is attacking it's own tissues when gluten is consumed. For the celiac, gluten consumption triggers an autoimmune reaction that damages the lining (the "villi") of the small bowel. This "villous lining" is where essentially all of the nutrition from what we eat is absorbed. This attack causes inflammation in the area and over time, as we continue to ingest gluten, wears down the villous lining (millions of tiny finger like projections) and impairs the efficient absorption of nutrients from our diet because the surface area is greatly reduced. This is why vitamin and mineral deficiencies are almost a given for those who have had celiac disease for some years and continued to eat gluten, either because they were misdiagnosed or just chose to ignore it all.

This inflammation produces characteristic antibodies that can be detected in the blood. These antibodies are what they are checking for when they draw blood in the process of diagnosing celiac disease. Some of the antibodies are pretty specific for celiac disease and others can be caused by other inflammatory and auto immune processes as well.

The gold standard, so to speak, of celiac diagnosis is the endoscopy with biopsy of the small bowel lining to check for damage to the villous lining caused by the inflammation.

The problem with beginning the gluten free diet before all testing is done is that it eliminates the inflammation caused by gluten so that antibody levels begin to fall and the villi begin to heal. It takes time for the inflammation and the antibodies to build up to detectable levels and for detectable damage to be done to the villi. So, when people have begun a gluten free diet before being tested for celiac disease they need to go back to eating gluten on a regular basis before getting tested. In that regard, the Mayo Clinic has developed guidelines for the "pretest gluten challenge": The daily consumption of two slices of wheat bread (or the gluten equivalent) for 6-8 weeks leading up to the day of the antibody testing blood draw or the same amount of gluten for two weeks leading up to the endoscopy/biopsy. It is interesting that, the pretest gluten challenge period is shorter for the endoscopy/biopsy than for the blood test. But apparently it takes longer for the buildup of antibodies to reach detectable levels than it does for the inflammation to produce detectable damage to the villi. By the way, if damage to the villi is significant, it can often be seen during the scoping but they will still send the sample off to a lab for microscopic analysis.

Now I am ready to propose that partial solution I spoke of. If it turns out that your endoscopy/biopsy procedure can't be scheduled for say, several months, you could begin a trial gluten free diet now and start back on gluten two or three weeks before the procedure day and still produce valid results. Just  beware that if you do that, you may expect stronger reactions to gluten when you go back on it than before you quit it. Just a thought.

There is also something called NCGS (Non Celiac Gluten Sensitivity) which does not damage the lining of the small bowel and does not, therefore, produce antibodies. There is no test for it. But it does share many of the same symptoms with celiac disease and is 10x more common. Celiac disease must first be ruled out before a diagnosis of NCGS can be made.

[Tracy A]

Thank you for the all the information! I see how my blood results turn out. I'm also wondering if there are tell signs of Celiac or NCGS in other areas of the body not just stomach issues. For instance, feeling tired and worn down etc. If I have it, it means I have been hitting my self with gluten for almost 50years! Yikes. I mean as I've gotten older I've tried to watch my carb in take but that's about it. More recently I noticed when I drink craft beer my stomach is upset so I've shied away from beer. And for some reason through out these years I noticed Chopin Vodka was the best for me. Funnily enough it's gluten free.

 

Just now, Tracy A said:

Thank you for the all the information! I'll see how my blood results turn out. I'm also wondering if there are tell signs of Celiac or NCGS in other areas of the body not just stomach issues. For instance, feeling tired and worn down etc. If I have it, it means I have been hitting my self with gluten for almost 50years! Yikes. I mean as I've gotten older I've tried to watch my carb in take but that's about it. More recently I noticed when I drink craft beer my stomach is upset so I've shied away from beer. And for some reason through out these years I noticed Chopin Vodka was the best for me. Funnily enough it's gluten free.  

 

 

[trents]

7 hours ago, Tracy A said:

Thank you for the all the information! I see how my blood results turn out. I'm also wondering if there are tell signs of Celiac or NCGS in other areas of the body not just stomach issues.

Absolutely! And many of them are connected with the nutritional deficiencies I mentioned earlier. Here is a conservative list: https://www.beyondceliac.org/celiac-disease/symptoms/

Many doctors look only for classic GI symptoms when diagnosing celiac disease in their patients. This is why so many of us aren't correctly diagnosed for years. And by that time there is typically significant collateral damage.

[Wheatwacked]

I was addicted to vodka for 30 years until I started a gluten free diet. Gluten has opiod effects that can cause constipation.

Unfortunately the official medical diagnosis of Celiac Disease still requires villi damage at Marsh 3 level. The autoimmune and other effects are not accepted as diagnostic.  So even with high blood tests, if there is no Marsh 3 villi damage (the Gold Standard of Celiac diagnosis, or a skin biopsy diagnosis of Dermatitus Herpetiformis,  you are still officially not.  Some doctors will diagnose it anyway, based on symptoms and bloodwork, if you are lucky.

There are over 200 different symptoms that have been associated with gluten. 

 

 

Edited April 16, 2023 by Wheatwacked

[Tracy A]

Thank you! 

[Maria Deal]

Hi, glad you are finally getting this taken care of & diagnosed! 👏🏼🙌🏼 Endoscopy & blood tests will be what you need. 👍🏼🙏🏼

I was off wheat, because it caused migraines, for several years before I got diagnosed… so my villi were still blunted visibly on the Endoscopic visual, but biopsy came back negative, but all blood tests were positive, along with my decades history of symptoms and multiple deficiencies. So I guess according to some standards I am not “official”, but some others I am official. I have other autoimmune diseases as well, I also have Dermatitis Herpetiformis, so that is pretty significant on the Celiac positive. It’s been about 5 years now & my villi are just starting to grow back, but I am convinced I was undiagnosed for several decades,  the last 10 were horrifically sick, and I am 60 now! 🤷🏻‍♀️ So I am so happy you are getting yourself well! 🙌🏼🙏🏼 

[Tracy A]

3 minutes ago, Maria Deal said:

Hi, glad you are finally getting this taken care of & diagnosed! 👏🏼🙌🏼 Endoscopy & blood tests will be what you need. 👍🏼🙏🏼

I was off wheat, because it caused migraines, for several years before I got diagnosed… so my villi were still blunted visibly on the Endoscopic visual, but biopsy came back negative, but all blood tests were positive, along with my decades history of symptoms and multiple deficiencies. So I guess according to some standards I am not “official”, but some others I am official. I have other autoimmune diseases as well, I also have Dermatitis Herpetiformis, so that is pretty significant on the Celiac positive. It’s been about 5 years now & my villi are just starting to grow back, but I am convinced I was undiagnosed for several decades,  the last 10 were horrifically sick, and I am 60 now! 🤷🏻‍♀️ So I am so happy you are getting yourself well! 🙌🏼🙏🏼 

Thank you for sharing. I've always had constipation and bloating issues but over the years just got used to it. Senekot was my best friend.  Now I'm noticing more uncomfortable pain on my lower left side. Recently since I'm turning 50 I started down the hormone testing path which showed I had Insulin Resistance. Ended up on Metformin and that seems to have helped but that lead me to get my gut checked out and apparently my inflammation was off the charts. My Beta-glucuronidase was 22,500 H among other high levels. Still waiting on the Celiac bloodwork but at this point I hope that's what it is. There's so many other issues with the gut I had no idea about. SIBO, Colitis etc etc. 

[Tracy A]

4 hours ago, Tracy A said:

Thank you for sharing. I've always had constipation and bloating issues but over the years just got used to it. Senekot was my best friend.  Now I'm noticing more uncomfortable pain on my lower left side. Recently since I'm turning 50 I started down the hormone testing path which showed I had Insulin Resistance. Ended up on Metformin and that seems to have helped but that lead me to get my gut checked out and apparently my inflammation was off the charts. My Beta-glucuronidase was 22,500 H among other high levels. Still waiting on the Celiac bloodwork but at this point I hope that's what it is. There's so many other issues with the gut I had no idea about. SIBO, Colitis etc etc.   

Oh and I meant to also say, I've looked up the Dermitis Herpeteformis. That looks pretty severe so I'm not sure if I have that. I will say that I randomly get little itchy patches that pop up on my butt. They're itchy patches and don't last long. I honestly thought maybe it was detergent or something irritating my skin.

[Maria Deal]

I always had diarrhea issues. Had endometriosis since I was 14, yes 14, had 2 “normal” periods my entire life, was like ‘giving birth’ every month & anemic and bedridden, was told at age 19 to have hysterectomy, had ovarian cysts/fibroids… had 1 miracle child, then hysterectomy. Stomach & GI issues always! Was told I had ‘Probable MS’ for decades, but turns out it was the Celiac! So yes, been sick my entire life!

[Scott Adams]

On 4/16/2023 at 7:15 AM, Wheatwacked said:

Unfortunately the official medical diagnosis of Celiac Disease still requires villi damage at Marsh 3 level.

Here is more info on the Marsh classification system, and I also want to point out that experts such as Kenneth Fine, MD, Rodney Ford, MD, and others believe that lower Marsh scores could still mean celiac disease:

 

[Scott Adams]

4 hours ago, Tracy A said:

Oh and I meant to also say, I've looked up the Dermitis Herpeteformis. That looks pretty severe so I'm not sure if I have that. I will say that I randomly get little itchy patches that pop up on my butt. They're itchy patches and don't last long. I honestly thought maybe it was detergent or something irritating my skin.

If it is DH, and your diet is 100% gluten-free, iodine can trigger flare ups as well, which is in dairy, seaweed, seafood, etc.

[Maria Deal]

Oh I understand better now that I read the complete Marsh classification! Thanks Scott Adams!

My 2 GI doctors/reports read ‘complete villi atrophy’ or something similar, (& verbally said zero visual villi, totally blunted off )  like in the new version:

“Grade B2/Type 3: complete villous atrophy. 

This level of damage is accompanied by many symptoms associated with celiac disease.”
I kept wondering why neither doctor ever gave me, or put in the report, a “Marsh number”!???

The last report did have such a long, complicated, verbiage about villi growing back that I had to google parts of this long sentence & put together to figure it out! 😡😑🙄

[Tracy A]

*Update* from original post.  I got my bloodwork back and it's Negative.

Celiac Disease Comp Panel w/Gliadin AB (IGG)

- tTG IgA Ser-aCnc <1.0 

- IgA SerPI-mCnc 128mg (within normal range)

 

Ugh so now I'm worried it's IBS or Crohn's that I'm dealing with. I actually wished it was Celiac so I could be done and move forward.  

 

[trents]

48 minutes ago, Tracy A said:

*Update* from original post.  I got my bloodwork back and it's Negative.

Celiac Disease Comp Panel w/Gliadin AB (IGG)

- tTG IgA Ser-aCnc <1.0 

- IgA SerPI-mCnc 128mg (within normal range)

 

Ugh so now I'm worried it's IBS or Crohn's that I'm dealing with. I actually wished it was Celiac so I could be done and move forward.  

 

It's regrettable that only the tTG-IGA and the total IGA were run. There are several other celiac disease antibody tests that could have been run and should have been run. And then there is the possibility of NCGS which is 10x more common than celiac disease.

Edited April 19, 2023 by trents

[Scott Adams]

I agree, if you get relief from a gluten-free diet then I would consider it NCGS.

[knitty kitty]

5 hours ago, Tracy A said:

*Update* from original post.  I got my bloodwork back and it's Negative.

Celiac Disease Comp Panel w/Gliadin AB (IGG)

- tTG IgA Ser-aCnc <1.0 

- IgA SerPI-mCnc 128mg (within normal range)

 

Ugh so now I'm worried it's IBS or Crohn's that I'm dealing with. I actually wished it was Celiac so I could be done and move forward.  

 

Don't give up on getting a diagnosis of Celiac Disease.  Wait until you get your endoscopy (continue with gluten in your diet) before you start looking for other causes.   

Metformin can cause vitamin deficiencies in Thiamine B 1 and Folate B9 by blocking their absorption.  Without Folate B9, Cobalamine B12 can't be used effectively.  These deficiencies, plus iron deficiency (common in celiac disease), can affect antibody production. 

I have Type Two Diabetes and was put on Metformin and developed vitamin deficiencies.  My doctors were not aware of the seriousness of vitamin deficiencies connected with the pharmaceuticals I was prescribed, much less the malabsorption problems associated with undiagnosed celiac disease.

Do get checked for vitamin and mineral deficiencies.  

Hang in there!  The road to diagnosis can be bumpy, but you're in good company. 😺