Inconclusive Test Results For Celiac

[CJC]

I am a 32-year-old female, and I have been at my wits' end as I have been seeing a GI specialist for approximately six months now with no diagnosis or explanation for any of my symptoms. (My GI doctor actually seems more interested in treating the individual symptoms but not the underlying cause.) As a brief background, I have had diagnosed hypothyroidism since I was in my late teens, which has been controlled and asymptomatic with thyroid medication with all periodic checks coming back as normal since being on the medication. For the past two years, however, I have been having chronic nausea and bloating, heartburn/chest pain, chronic constipation, joint pain, itching (with no rash), frequent headaches, abdominal cramping and pain, lower extremity muscle cramping, upper and lower extremity numbness and tingling, and sluggishness. I have also had fatty/oily stools on occasion. Oh, and I have been diagnosed as having a "ton" of gallstones. Initially, the majority of my aforementioned symptoms were believed to be thyroid-related; however, those tests all came back normal. My PCP then referred me for a colonoscopy with an EGD due to the severity of my constipation with persistent rectal bleeding without a known source and to check for Barrett's due to the heart/chest pain I was having. The colonoscopy revealed moderate diverticulosis and a benign colon polyp, and the EGD revealed duodenitis (inflammation of the duodenum, the first part of the small intestine). They tested for H-pylori due to the duodenitis, which came back negative. Barrett's was also not found.

During my follow-up appointment after the colonoscopy/EGD, I asked my doctor about the possibility of celiac with the results of the EGD in particular since H-pylori was not the cause of the duodenitis, and I had read there is a correlation between thyroid problems and celiac as well as gallstones and celiac, not to mention all the symptoms I have been having. I was told that they didn't biopsy for celiac while I was already under for the EGD (even despite my symptoms), so my doctor sent me for blood tests to rule out celiac. Well, the results came back inconclusive with some markers coming back as positive for celiac and others coming back as negative. They also checked my ESR and CRP levels, which both came back as positive for inflammation (not related to arthritic changes). My doctor told me the only way to tell if I have celiac disease at this point definitively is by an EGD, which my insurance will not approve since I just had it done nine months ago. (Very frustrating!)

As far as treatment goes, I have been given a prescription for the nausea and told to take OTC antacids for the heartburn. I have also been told to take probiotic supplements, OTC laxatives, and Beano/GasX. My doctor has told me to consume flaxseed oil and increase my water and fiber intake (despite my fiber intake in particular already exceeding well above 100% for the daily recommendation). None of these treatments have helped with my digestive issues period, and my issues actually seem to be getting worse. Just yesterday my doctor prescribed Amitiza to see if that will help the bowel issues, but the side effects of the medication are the problems I have been dealing with and want relief from, including nausea, bloating, headache, heartburn, etc. (It's a vicious cycle!) When pressed about the underlying cause, my doctor says he doesn't believe my symptoms are related to the gallstones period but that it is complicated and that he can't say what the underlying cause actually is except that he believes all my symptoms are "linked." As far as the celiac goes when pressed, my doctor just says, "We will just keep that in the back of our mind." I am so frustrated as there are days that the symptoms are debilitating, and nothing my doctor has told me to do over the past six months has alleviated any of my symptoms. To date, my doctor has not recommended any changes to my diet (i.e., gluten-free).

With inconclusive test results for celiac and taking into consideration all my symptoms and history and failed treatments to date, should I go ahead and pursue a gluten-free diet even though that has yet to be recommended by my GI doctor? Since I can't undergo another EGD in the near future to confirm a diagnosis of celiac, for those familiar with celiac disease, is celiac disease even suspect in my case to warrant a trial on a gluten-free diet? Any and all feedback would be greatly appreciated.

[kareng]

I am a 32-year-old female, and I have been at my wits' end as I have been seeing a GI specialist for approximately six months now with no diagnosis or explanation for any of my symptoms. (My GI doctor actually seems more interested in treating the individual symptoms but not the underlying cause.) As a brief background, I have had diagnosed hypothyroidism since I was in my late teens, which has been controlled and asymptomatic with thyroid medication with all periodic checks coming back as normal since being on the medication. For the past two years, however, I have been having chronic nausea and bloating, heartburn/chest pain, chronic constipation, joint pain, itching (with no rash), frequent headaches, abdominal cramping and pain, lower extremity muscle cramping, upper and lower extremity numbness and tingling, and sluggishness. I have also had fatty/oily stools on occasion. Oh, and I have been diagnosed as having a "ton" of gallstones. Initially, the majority of my aforementioned symptoms were believed to be thyroid-related; however, those tests all came back normal. My PCP then referred me for a colonoscopy with an EGD due to the severity of my constipation with persistent rectal bleeding without a known source and to check for Barrett's due to the heart/chest pain I was having. The colonoscopy revealed moderate diverticulosis and a benign colon polyp, and the EGD revealed duodenitis (inflammation of the duodenum, the first part of the small intestine). They tested for H-pylori due to the duodenitis, which came back negative. Barrett's was also not found.

During my follow-up appointment after the colonoscopy/EGD, I asked my doctor about the possibility of celiac with the results of the EGD in particular since H-pylori was not the cause of the duodenitis, and I had read there is a correlation between thyroid problems and celiac as well as gallstones and celiac, not to mention all the symptoms I have been having. I was told that they didn't biopsy for celiac while I was already under for the EGD (even despite my symptoms), so my doctor sent me for blood tests to rule out celiac. Well, the results came back inconclusive with some markers coming back as positive for celiac and others coming back as negative. They also checked my ESR and CRP levels, which both came back as positive for inflammation (not related to arthritic changes). My doctor told me the only way to tell if I have celiac disease at this point definitively is by an EGD, which my insurance will not approve since I just had it done nine months ago. (Very frustrating!)

As far as treatment goes, I have been given a prescription for the nausea and told to take OTC antacids for the heartburn. I have also been told to take probiotic supplements, OTC laxatives, and Beano/GasX. My doctor has told me to consume flaxseed oil and increase my water and fiber intake (despite my fiber intake in particular already exceeding well above 100% for the daily recommendation). None of these treatments have helped with my digestive issues period, and my issues actually seem to be getting worse. Just yesterday my doctor prescribed Amitiza to see if that will help the bowel issues, but the side effects of the medication are the problems I have been dealing with and want relief from, including nausea, bloating, headache, heartburn, etc. (It's a vicious cycle!) When pressed about the underlying cause, my doctor says he doesn't believe my symptoms are related to the gallstones period but that it is complicated and that he can't say what the underlying cause actually is except that he believes all my symptoms are "linked." As far as the celiac goes when pressed, my doctor just says, "We will just keep that in the back of our mind." I am so frustrated as there are days that the symptoms are debilitating, and nothing my doctor has told me to do over the past six months has alleviated any of my symptoms. To date, my doctor has not recommended any changes to my diet (i.e., gluten-free).

With inconclusive test results for celiac and taking into consideration all my symptoms and history and failed treatments to date, should I go ahead and pursue a gluten-free diet even though that has yet to be recommended by my GI doctor? Since I can't undergo another EGD in the near future to confirm a diagnosis of celiac, for those familiar with celiac disease, is celiac disease even suspect in my case to warrant a trial on a gluten-free diet? Any and all feedback would be greatly appreciated.

Sometimes docs say your blood work is " inconclusive" because they don't know what it means. Post them and the ranges. Maybe someone on here could see if you were even given the correct blood tests. If the doc can't do the EGD correctly, I wouldn't be too confident in his ability to understand the labs.

[ravenwoodglass]

"Well, the results came back inconclusive with some markers coming back as positive for celiac and others coming back as negative"

Some doctors falsely think that all the celiac tests need to be a high positive for someone to have celiac. They don't. In fact we can have totally negative tests and still have celiac.

It would be helpful if you post the actual test results. However since your insurance company won't approve another endo, which can also have a false negative, there is nothing wrong with going ahead and giving the diet a good strict try. Read as much as you can here and do ask any other questions you may have.

[Bubba's Mom]

I've heard of false negatives for Celiac (I had negative blood work) but not false positives.

Your symptoms sure could be Celiac..or at least gluten intolerance?

Since getting another scope is out of the question for now, and your GI seems kind of clueless..why not go gluten-free and see how you feel? You must go completely gluten-free..not gluten-free lite.

I also wonder how you are being treated for the gallstones? They can cause some of your symptoms too.

There's a lot of info on how to go gluten-free here, along with gluten's aliases in ingredient lists. Do some reading and be sure to post any questions you have.

[Takala]

No, the only way to tell "for sure" is that you get a complete biopsy of the small intestine, the EGD (upper endoscopy) only looks at the very topmost part. They biopsy the esophagus. You need to look at the small intestine for celiac damage, and many samples need to be taken, not just one or two. see here link: Open Original Shared Link

Get complete copies of your test reports, by law, they must give them to you, I would suggest going to the doctor's office in person and making them give them to you, in writing.

Then, if you wish to get a formal diagnosis, get another doctor. Not doing the proper follow up tests to positive bloodwork with symptoms is not competent. If this were cancer, would they say sorry, you're only allowed to have it in one breast and we already looked at the other one last year ? Emphasis on you must continue to eat gluten during the testing process for it to be considered medically "valid," unless they are checking to see how you're doing on a gluten free diet. Some doctors will incredibly tell people who have been off gluten for a long time to just eat some for less than a month, and then subsequently the biopsies will of course come out negative and they're then told they can't possibly have celiac, in spite of symptoms being relieved by a gluten free diet.

You can also have a genetic test done to see if you are a carrier of the genes which pre dispose you to celiac or to gluten intolerance, (this can be done over the counter, as well) which would show if you are more likely to be one. You can also look at your family medical history, and ethnic background to see if you're from a higher risk group(s) - one fascinating read is the wiki HLA DQ 2 and DQ 8 pages. link: Open Original Shared Link

If you are not dead set on a formal diagnosis of gluten intolerance or celiac, after you have exhausted all possible tries with docs, tests, and insurance, then go ahead and try going on a gluten free diet. Gluten intolerants may have all the symptoms of celiac and then some, but not throw a positive blood test or biopsy, btw, but new research shows that they (we the never formally diagnosed) may be 5 to 7% of the population, meanwhile, celiacs are increasing to be 1% of the population.

[ravenwoodglass]

Be aware that gene testing is not diagnostic. There are people with the two most common celiac associated genes that never develop celiac and there are folks firmly diagnosed celiac that don't carry either of those two genes. Gene testing can be part of the diagnostic process but we do still have a lot to learn about the associated genes.

The endoscopy also has a high rate of false negatives so if you do decide to pay out of pocket for one (since the insurance company is refusing) do be sure to give the diet a strict try no matter what those results.

With positive blood tests, even if not all are positive, you do really have a diagnosis.

[CJC]

Thank you all so much for taking the time to reply and your helpful feedback. When I was at my last doctor's appointment two days ago and given yet another prescription just to attempt to treat one of my symptoms, I did decide to request a copy of my medical records and all lab results in an effort to be more proactive in getting off of the sick-cycle carousel I have been on. I was told they legally have 15 days to respond to my request for my records and to expect it to take that long. When I get the copy of my labs, I will most certainly post them as I will have no idea what I am looking at or for.

Someone did ask me about treatment for my gallstones, which I thought could be a cause of my symptoms as well, but my doctor is actually adamant that he believes the gallstones are asymptomatic as they do not appear to be blocking any bile duct on the abdominal ultrasound I had. He believes the gallstones are just a consequence of having digestive issues but not the cause of them, and so there has been no treatment rendered for the gallstones. Also, someone else pointed out that I actually didn't have a full endoscopy but just an upper endoscopy (which I didn't realize), so I will be contacting my insurance company as to why a full endoscopy is not being approved at this point, especially taking into consideration my test results for celiac, albeit "inconclusive," and file an appeal.

I also forgot to mention before that since my doctor has had me step up my fiber intake with each appointment to help combat the chronic constipation, I have actually had worsening bowel issues and have felt even more nauseated and bloated with abdominal pain (more noticeable after eating) as I have gravitated primarily toward whole wheat, oats, grains, and vegetables to increase my fiber intake. I asked my doctor at my most recent appointment if it were possible to consume too much fiber (as a reason for my worsening symptoms), and he said no, not usually, but he could not offer an explanation as to why my symptoms were worsening and not improving with all the treatment modalities he has put in place so far and that I have been compliant with.

I will probably have many more questions as I familiarize myself more with celiac disease and gluten intolerance, so please bear with me. Also, I will post my lab results as soon as I receive them so that you all can hopefully help me decipher them and provide more feedback accordingly. In the meantime, in case my HMO decides to approve a full endoscopy upon my appeal, I will temporarily hold off for a little while on going gluten-free for more accurate results (hopefully!), but if they deny it again, I will go ahead and proceed with a gluten-free diet and see if it helps. I am so thankful to have found this forum and, again, greatly appreciate your replies as you all have been so incredibly helpful and encouraging. Thank you!

[Roda]

Unfortunately it is not routine for most doctors to biopsy for celiac during an EGD unless they are specifically looking for it. I think this is stupid, because in your case you might have to undergo the test again.

[pricklypear1971]

Instead of bulking up on gluten (since you suspect this might be an issue), try probiotics and digestive enzymes.

I'm not suggesting going gluten-free prior to testing, but if all of the whole wheat goodness isnt helping try something that might...

[ciamarie]

Beans are also very high in fiber. In case that helps eat less of the 'whole grain' gluten-y foods.

[Ginger7]

CJC- has your GI considered Crohn's disease or Ulcerative colitis, given the inflammation found? Did anything on scope report come back indicating + or - for these types of inflammatory bowel disease? Prometheus also offers an IBD diagnostic panel of bloodwork. It is not definitive (like everything else), but it might help fill in some blanks. There is a great app called GIMonitor that helps you track your symptoms and there is a way to talk with others experiencing the same thing. Also there are some who have both, celiac and IBD. I hope you find some answers.

[Ginger7]

Also, I forgot to mention that increasing fiber typically makes inflammatory bowel disease worse, from what I've learned from others with the disease.

[Adalaide]

It really sounds like your doctor is a complete idiot. I'm quite proactive and vocal with my doctors and have never been afraid to tell them exactly what I want or need. My primary care doctor has been great over the past few years. He involves me in decisions about my health and makes sure that I stay well educated on my health issues. I would suggest you find a specialist with a similar attitude. It sounds like your doctor really has no interest helping you but is quite happy to just sign off on his prescription pad and send you away. You seem to have a pretty good grasp of what is happening and a good doctor will listen to you rather than just blow you off.

Also, I'd ask again about your gall bladder. I never knew I had an issue with mine until I ended up in the ER. I was told it was "full" of stones and to have it out. In the space of three months I went from asymptomatic to emergency surgery to have it removed with a complete blockage of the duct below where it joins the one from my liver. My surgeon says I may have suffered some serious and permanent liver damage in the week in which I had a total blockage. I'd hate to see something like that happen to someone else over a relatively simple procedure. It's a same day surgery when it's not an emergency and you can argue to your insurance company that it will save them a LOT of money when they aren't paying for multiple ER visits, pain meds and an eventual long hospital stay. Of course, it could just be asymptomatic your whole life too but given what you've said about your doctor you should certainly get the opinion of someone who is more interested in healing you than drugging you.