Can I Officially Rule It Out?

[Sunshine Sassie]

Hi out there, I recently posted about my fears of having an endoscopy/colonoscopy done; I completed both last week and afterwards the doctor told me she thought I had Celiac because of how my small intestine looked (mucusol changes, suspect celiac is what the report said). The results came back negative. I'm confused why she told me she thought I had it and now I don't

I'm IGA deficient and all of my symptoms clear up (besides constipation) on a gluten free diet.

I had some helpful responses on my last post but I'm still confused if I can officially rule out having Celiac.

I feel like I'm just chasing down an answer. I just don't understand how I can feel so terrible and nothing be wrong with me

[murphy203]

I have alot of empathy for you -- I am your reverse, but I still feel like my dx is inconclusive. Which stinks. A week in, I feel better gluten-free, so I would suggest eat what makes you feel good. :-)

[BlessedMommy]

If eating gluten free makes you feel better, than that is what you should do.

[Sunshine Sassie]

Sorry to hear that murphy203, what were your results?

And thank you BlessedMommy I've read in your posts that you could not finish the gluten challenge to get tested because of your high sensitivity to gluten I guess all that matters is we feel better. I think I'm most upset about not having a reason for the cause of my chronic constipation. I thought maybe my intestine was damaged and once I healed it would help resolve it.

[TriticumToxicum]

I am in exactly the same situation. I have had my endoscopy and blood testing two weeks ago after a 4-months-gluten challenge (I was eating gluten-free for three months before that). The absence of all my symptoms on a gluten-free diet was impressive, but the return of symptoms I had never thought about in relation to food (daily headaches, sore gums) was astonishing. That is when I decided to get tested and start the challenge. 

 

But everything came back negative. I was shocked and also somewhat disappointed. It's not that I want to have a serious disease like celiac, but I wanted an answer and to be sure that removing gluten from my diet is the answer. 

I felt like a hypochondriac, I questioned every single one of my symptoms and most of all myself. Was I making something big out of something that's not even there? 

But I still went gluten-free immediately after the endoscopy and this time I felt much better after only 8-10 days (the first time it took 4 weeks to really feel different). 

 

Like you, I was wondering if I should rule celiac out and accept that I am NCGS and since there is no way to medically prove that (yet), also accept that I might feel like a hypochondriac all the time. 

Then, by chance, I found old genetic tests and they showed that I am positive for DQ7 and DQ8. Even though DQ8 is the low-risk gene, I now know I can't rule celiac out. I was actually thinking about paying for the genetic test myself just to know if celiac is a possibility or not (although there are a few celiacs who are negative for DQ2 and DQ8).

 

I have to say that this genetic test made a huge difference for me. It might be stupid, but I now feel somewhat validated, because I have this genetic predisposition. 50% of NCGS-patients have one of the genes, which is less than in the celiac population where 99% have either DQ2 or DQ8, and more than in the general population where about 30% are positive for the genes. 

Since DQ2 and DQ8 are increased in NCGS-patients and NCGS is also frequent in first degree relatives of celiac patients, some think that NCGS might be pre-celiac in some patients. 

 

So maybe I am pre-celiac. Or maybe in a few years they will have a good biomarker for NCGS and be able to diagnose it properly. I am a scientist myself and can accept measurable responses much better than just a list of symptoms, so for me an official diagnosis would have been great, but since I don't have it, I will enjoy my gluten-free diet without the constant worry about cross contamination that celiac patients face every day. I know that for now I don't get intestinal damage from traces of gluten and that is making life much easier than it could have been. 

Always look for the silver lining. And if you think it would make you feel better, like me, think about getting the genetic test. 

[murphy203]

Sorry to hear that murphy203, what were your results?

 

I had a biopsy performed first because I have iron-deficient anemia.  My biopsies were positive for celiac, but then all of the subsequent blood tests were negative.  I'm still waiting for Prometheus genetic results to come back because if I don't have the genes, there is 99% chance I don't have celiac disease.  If I have do have the genes, then I guess I am somewhere on the gluten sensitive spectrum and will benefit from a gluten-free diet.

 

One additional confirmatory test:  I need a followup endoscopy using different equipment to check out a potential problem at a bile duct, and if I have the genetic markers, the GI will to take more biopsies to see if I am responding to a gluten-free diet. That happens in about 6 weeks. 

[Sunshine Sassie]

Murphy203 I can't imagine how much more frustrated I'd be if I had tested positive and still did not receive a diagnosis! I'm glad you're having more tests done and I know it's in a month and a half but I hope you'll post what you're results turn out to be.

And Triticum Toxicum, you're describe exactly how I feel...I've constantly questioned myself too for the last year or think that maybe my pain isn't as bad as I think. But I don't think that we would be so desperate for answers if it was in our head; I believe what we feel is real. I like what you mentioned about looking forward to new testing being available in the future. Thank you for sharing your story with me.

[nvsmom]

The endoscopy can miss up to 1 in 5 celiacs, but on the flip side, I catches 80+% of all celiacs.  If you only had the endoscopy done, with no blood tests, and it was negative, then you probably do not have celiac disease.  A negative biopsy means you did not have a lot of microscopic damage to the intestinal villi.  It is possible to have early stages of damage and not be given a diagnosis of celiac disease, and it sounds like your intestines were inflamed so that is suspicious.

 

This report (pages 8-10) discusses the biopsy: Open Original Shared Link

 

Table 1 The modified Marsh classification of gluten-induced small-intestinal damage [33,34]

 

• Stage 0 Preinfiltrative mucosa; up to 30% of patients with dermatitis herpetiformis (DH) or gluten ataxia have small-intestinal biopsy specimens that appear normal
• Stage 1 Increase in the number of intraepithelial lymphocytes (IELs) to more than 30 per 100 enterocytes
• Stage 2 Crypt hyperplasia. In addition to the increased IELs, there is an increase in crypt depth without a reduction in villus height. Gluten challenge can induce these changes, which can also be seen in 20% of untreated patients with dermatitis herpetiformis and celiac disease
• Stage 3 Villous atrophy: A, partial; B, subtotal; C, total. This is the classic celiac lesion. It is found in 40% of DH patients. Despite marked mucosal changes, many individuals are asymptomatic and therefore classified as having subclinical or silent cases. This lesion is characteristic of, but not diagnostic of, celiac disease and can also be seen with severe giardiasis, infantile food sensitivities, graftversus-host disease, chronic ischemia of the small intestine, tropical sprue, immunoglobulin deficiencies, and other immune deficiencies and allograft rejection 

​You may be in Stage 1 and not yet fit the diagnostic criteria (early celiac disease) or the damaged parts were missed or it isn't celiac disease (but could be NCGS) or something else entirely caused the intestinal irritation.

 

There are a few members who have experience de-coding and endoscopy report.  If you post your results, word for word, they might be able to help.

 

If you did have negative blood tests (and multiple tests were run), and a negative endoscopy, then you probably do not have celiac disease.  It could still be NCGS though.  Those with NCGS can have symptoms as severe, or more severe, than a celiac so it should be taken seriously.  It sounds like you should go gluten-free in the long run. Whether it is NCGS or celiac disease, the treatment is the same.  

 

Severity of symptoms isn't diagnostic for celiac disease. It isn't a matter of sensitivity to gluten (IMHO) but more a matter of how severe your symptoms are.  A celiac may be exposed to a crumb of bread, maybe something as small as 30ppm, and be symptom free, whereas another will react severely and instantly with nausea and fatigue, and another celiac will develop pain or ataxia days later.  The same goes for one with NCGS, some may react severely when exposed to gluten.... It isn't a matter of how sensitive we are, it is more about the symptoms that appear after exposure. KWIM?

 

I got off topic there...

 

My guess is that you have celiac disease that is still early or they missed the damage.  You had low total serum IgA which is not a celiac test BUT 1 in 20 celiacs are low in IgA compared to ~1 in 700 in the regular population... I don't believe in medical coincidences.  Plus you feel better on the gluten-free diet.  I would move forward as if you are a celiac.

 

Best wishes to you!

[murphy203]

Murphy203 I can't imagine how much more frustrated I'd be if I had tested positive and still did not receive a diagnosis! I'm glad you're having more tests done and I know it's in a month and a half but I hope you'll post what you're results turn out to be.

So I did officially get dxd with celiac disease, but I need more evidence because I am just plain contrary. Gluten-free is a lifetime commitment and I need more assurance that I actually have this. I completely get where you and TT are coming from.

[murphy203]

nvsmom, your commitment to this board is amazing, THANK YOU! I appreciate that you always come in with scientific details and links, especially on this particular "newbie" thread. I know I went to my followup doctor appointments with your scientific papers clutched in my hands when I asked for more tests. :-)

[nvsmom]

Aw, thanks.

[Sunshine Sassie]

murphy203 I am so happy you received some answers! But I am also sorry that you do have the disease that can cause you damage. I know we're both in the same mind-set when you say you need more assurance because of how much involvement is required to live the rest of you life gluten free! It's daunting how much work ahead it would be avoiding cross-contamination, eating out, explaining to others why you can't eat the pizza everyone is eating at work, holidays, birthdays,cosmetics, and many more challenges I haven't even encountered yet! I completely understand your need of assurance.

 

I also wanted to give a special thank you to nvsmom! You have responded to so many of my posts in the past and I was hoping you'd respond to this particular one (and you did ).

 

My endoscopy results I received right after my endoscopy said: Duodenal mucosal changes seen, suspicious for Celiac Disease. I know it's not much; I didn't know if people usually get another report of the biopsy?

 

I wish I had more answers from my blood work (although like you stated the IGA deficiency could possibly be part of my answer). Although if I didn't have the deficiency and received a positive blood test (and negative biopsy) I suppose I would still be seeking reassurance that I really had it (I can't win with myself lol).

 

Again I would like to thank murphy203, T T, Firttimemama2014, nvsmom and everyone on this forum who is taking time to reply to posts. This board was what got me through this week and I wish I felt this support from another board I am in for my constipation. I've felt devastated this week after waiting three years to finally get an answer from my colonoscopy. I was so relieved to find out nothing was seriously wrong and my colon was fine but now I am more scared than ever of how I will ever resolve my bowel movement problems. But I'm feeling much better now after receiving everyone's advice and after a week I am finally starting to see results from my gluten free diet. I'm realizing that even though I am still fuzzy on being NCGS or Celiac I actually did get an answer: I know after one year and the gluten challenge I can finally be positive that the reactions I have are to gluten and it's not in my head. It took me awhile to convince myself; I just couldn't believe my body could be reacting so crazy from something I've eaten my entire life! At least I can manage my gluten related symptoms and who knows maybe after time being gluten free my constipation will resolve or at least get better. Thanks guys