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Doctor Thinks I Have Celiac - Odd Symptoms


Darkfox021

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Darkfox021 Newbie

About a year and a half ago, I started getting swelling in the fleshy area of my hands. This seemed to correspond to times when I was using something with vibrations (ex. cordless drill). A few months later, I remember the first times I had swelling in my feet. At this time, I didn't think it was the same cause.

I saw my doctor last summer and told him about the swelling. He thought I could be vitamin B12 deficient and ordered a blood test for it. I received a call telling me that the blood test turned out fine and I requested the doctor call me to discuss further testing. That never happened and I didn't follow up with him.

Fast forward to last month.. The swelling in my hands (and feet) have continued occasionally, after raking leaves, after mowing, and last month most severely after spending a ton of time working in the yard removing some holly bushes from my property. It was so bad that I could not go to work, as I could not flex my fingers. I scheduled a doctor appt. then and went to see him.

He decided that he wanted to rule out lyme disease and that he had something in mind if that turned out negative. He took blood and asked me to come in the following week when the results were back. The lyme disease test was negative, but I was slightly anemic and my B12 levels (while still in the normal range) were very low compared to the blood test that was taken the year before. I also showed him a rash I had been developing over the previous few weeks, which I thought may have been related to a flea problem we're having in the house. He was sure they weren't flea bites and said "that's dermatitis herpetiformis". Then he proceeded to tell me about Celiac Disease and that I should avoid glutens. He prescribed a week's worth of methylprednisterone and set up an appointment for a month later. While on the steroid, my rash went away completely and I had no swelling (although I did quite a bit of physical work with my hands during that period). After the treatment was finished, the rash has come back and I've had minor swelling in both my hands and my feet.

So, now of course I've read up on Celiac Disease in the meantime. My rash does not look like any of the pictures of the dermatitis herpetiformis I've seen online. I have a family friend that's a psychiatrist who says it does look like it's a rash related to an auto-immune disease, that it's not hives. But, without the rash, and other than I'm slightly anemic and low in B12, I don't seem to have any other symptoms of Celiac. The swelling certainly does not seem consistent with the usual symptoms of the disease (and of course, he cautioned me to be leary of what I read online) and I don't really have GI issues that seem much more common. I do have acid reflux (which could be a side effect of celiac), but other than that, I have mild GI symptoms from time to time, but I always figured those were normal to most people.

So, I've gone on the diet, have done fairly well (oh my god, it's expensive), but I'm thinking I really should know for sure before I do much more, mainly because it seems the diet could cause problems with testing for the disease in a few weeks.

I'm thinking of moving up the appt., demanding the test for the anti-bodies before doing much more. I'm not that keen on getting the biopsy, but from what I've read on this site, it seems the anti-body test is more accurate anyway...

So, has anyone else had swelling issues? Is this a real possible symptom of the disease? Am I right in figuring my course of action? Or, should I give the diet more time to see if the symptoms I do have subside?


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Darkfox021 Newbie

Another thing, since I've been diagnosed, I have found out that my cousin was diagnosed with Celiac a few years ago.

Also, my doctor is not the testing type. He seems to diagnose things by guestimating what it could be and then prescribing medication to see if it takes care of the problem (my feeling is this is caused by insurance companies making it very difficult for him to get approval to do testing). My acid reflux happened exactly that way, even though I had no signs of post-nasal drip, he prescribed a nasal spray to see if that helped the nagging cough I had for many months. Only after I suggested it could be acid reflux did he prescribe an acid reflux medicine which cured the cough.

CeliBelli Newbie
....So, has anyone else had swelling issues? Is this a real possible symptom of the disease? Am I right in figuring my course of action? Or, should I give the diet more time to see if the symptoms I do have subside?

Yes, absolutely. Other people do have it, and it is a telltale sign of Celiac Disease. I have been dealing with this in my hands and feet for years, and was finally diagnosed this December, after going to the next county to find answers when my ankles started swelling and I intermittently lost sensation in my hands, arms, legs and feet. That was all in addition to the abdominal pain and chronic sinus and ear infections, none of which I connected together. I am still in the healing stages and am currently dealing with a particularly bad round of swelling in my hands. Bad enough I had to take off my wedding band because my joints are so swollen.

The swelling is related to malabsorption and consequent vitamin deficiencies. You can treat that with vitamin and iron supplements while you sort out the rest. Based on all the best scientific advice I've read, from the National Institutes of Health (NIH) on down, you should absolutely NOT go gluten-free until you've had the antibody testing and the endoscopy. It is absolutely necessary for your body to be in full blown reaction to gluten to get accurate and complete results. I had the Prometheus company's Celiac Plus tests, which include both the high sensitivity antibody and genetics tests. I also had the endoscopy and colonoscopy done at the same time. The preparation for it is worse than the procedure, but it is worth it to get a complete understanding of the extent of the intestinal damage and to check for bowel cancer, which is higher in Celiacs.

If your doctor isn't keen on the testing, press them for it. Arm yourself with information from the NIH and insist on getting properly diagnosed. This is not a disease to be guessed at, particularly since it is genetic. If you have it, you want to know conclusively, and you want to be able to tell your blood relatives, too. If necessary, call you insurance company to get pre-approval from them, if that is possible.

Good luck. You are not alone.

veggienft Rookie

Sorry, I disagree. It doesn't take 10 minutes reading these pages to come to the unmistakable conclusion that current tests are useless. Otherwise, how could the celiac diet be producing these astounding results in people who test negative?

The question is, do you have the disease characterized by wheat making you ill? And the answer is supposed to come from a panel of tests?

Your doctor is correct. Try not eating wheat. If the diet works, then you have whatever you call that disease where eating wheat makes you ill.

It's called celiac disease.

..

McGreen Newbie

I have had swelling too. At very random times, I can't really relate it to a particular activity. I have had swelling that includes pain, like arthritis and swelling with no pain. I also tested negative for Lyme disease. One time my knee swelled up about 3 times the normal size. It starting with a tingeling feeling than felt almost numb and like there was water under my skin. My feet and ankles have also swelled. The doctors could never figure out what was causing it. My mom has recently discovered that she is gluten-intolerant and has MS as well. I have decided to try the gluten-free diet, without consulting a doctor. Not to sound cynical, but I went to so many and they didn't really help me. I am taking my health into my own hands (not that I would suggest this to anyone else). Let's hope the diet helps! Good luck to you also:)

kayavara Rookie

 One time my knee swelled up about 3 times the normal size

I have noticed when I sit in the bathtub at times, my kness feel swollen and tight....but my hands and feet do not.This has puzzeled me lately.They were so tight I thought I had a fluid problem....the rest of my body was normal...ankes,feet etc.

ravenwoodglass Mentor
I have had swelling too. At very random times, I can't really relate it to a particular activity. I have had swelling that includes pain, like arthritis and swelling with no pain. I also tested negative for Lyme disease. One time my knee swelled up about 3 times the normal size. It starting with a tingeling feeling than felt almost numb and like there was water under my skin. My feet and ankles have also swelled. The doctors could never figure out what was causing it. My mom has recently discovered that she is gluten-intolerant and has MS as well. I have decided to try the gluten-free diet, without consulting a doctor. Not to sound cynical, but I went to so many and they didn't really help me. I am taking my health into my own hands (not that I would suggest this to anyone else). Let's hope the diet helps! Good luck to you also:)

I hope the diet helps, I have the feeling it will. I hope your Mom is also doing the diet as strictly as possible. The neuro symptoms of celiac are very similiar to MS, I was thought to have MS myself for a time. I have seen a fantastic resolution of the symptoms they thought were MS and I hope your Mom has the same results.

To the original poster, yes I also had a great deal of swelling. Celiac can effect kidney function and for some of us when this happens we can retain a lot of water. I still have swelling in my hands most mornings but by the time I have been up for an hour it has gone away and it is not any where near as bad as it was. My hands and feet were swelled so much before being gluten-free that I broke the shank of an antique ring one night and after going gluten free I lost a shoe size.


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CeliBelli Newbie
Sorry, I disagree. It doesn't take 10 minutes reading these pages to come to the unmistakable conclusion that current tests are useless. Otherwise, how could the celiac diet be producing these astounding results in people who test negative?

The question is, do you have the disease characterized by wheat making you ill? And the answer is supposed to come from a panel of tests?

Your doctor is correct. Try not eating wheat. If the diet works, then you have whatever you call that disease where eating wheat makes you ill.

It's called celiac disease.

..

Or, if you don't get tested and conclusively diagnosed, you could be reacting to something else that tends to be combined with gluten, like soy. Or, you could actually have any number of other problems that won't get adequately treated.

From 10 minutes reading these pages it is evident that there are myriad reasons why peoples tests come back negative, foremost among which is the fact that they go off gluten first, then get tested, which is almost guaranteed to throw false antibody results. The other trend is that people self test with outdated testing methods.

The best medical scientists in this field, the ones who are on our side pulling for us, recommend high-sensitivity antibody and genetics testing, and endoscopy. I prefer their expert opinions over guessing.

McGreen Newbie

I hope the diet helps, I have the feeling it will. I hope your Mom is also doing the diet as strictly as possible. The neuro symptoms of celiac are very similiar to MS, I was thought to have MS myself for a time. I have seen a fantastic resolution of the symptoms they thought were MS and I hope your Mom has the same results.

My mom has seen DRASTIC improvements in the last 6 weeks since she has been gluten-free! She is very annoyed with all of the doctors she has been to...not one of them ever mentioned the possibility of a change in diet helping her symptoms. The good news is, she figured it out and is doing much better. I see how MS could be confused with the symptoms of gluten intolerance. She is going to the doctor in a couple weeks to get her vitamin levels checked. It will be very interesting to see the results.

Darkfox021 Newbie

Thanks for the posts. I feel better about his diagnosis knowing that the swelling can be attributable to Celiac.

By the way, he didn't say to go gluten free. He basically said to avoid bread and gave me the steroid med. He said he had another patient who did not have any problems (for several years) after taking the steroid med. So, he doesn't sound fully educated on the disease, but he was able to put together the diagnosis without normal symptoms, so that seems to indicate he knows something.

Regarding testing, versus anecdotal evidence of being 'cured' by not eating gluten, I'd prefer to know for sure. Or, at least as sure as I can be. Since my symptoms seem to be more related to the malnutrition aspect of the disease, I could go through the trouble of being gluten free for 3 months, 6 months, whatever, and still have some minor swelling and rash and not know if I picked up some hidden gluten somewhere, or whether it's being caused by something else. Or whether I hadn't been off glutens for long enough for it to go away. I know from reading that there can be false negatives, and if I come up negative, I'll go from there. But, a positive result would go a long way towards assuring me that I'm on the right track.

I've attempted to be gluten free since last Tuesday (10 days). I've done an ok job, but I know I made some mistakes. Would it be best to go back to eating glutens and a) move my follow up with my Dr to some time next week, or B) keep the appt. for a few weeks away to lengthen the time possible to get anti-bodies back into my system? I am going to insist on formal testing. Would the one week of doing a 95% effective job dramatically alter the testing? If so, would even 2-3 weeks of going back on Glutens be enough to get the anti-bodies? I realize that a doctor's advise would be more appropriate, but I don't think I can talk to him without scheduling an appt. and I'd like to take care of the blood test while I'm there.

Aleshia Contributor

when I had been gluten free for about a month my doctor to me that a week of eating gluten again would be enough to show a reaction for an endoscopy or blood test so that I wouldn't have to be suffering from the challenge (you feel worse after you've been off gluten when you go back to eating it) I never had any stomach issues really from it until I had been off of it for a while... then it was pretty bad but not as bad as what some people describe on here. I should get my results of the endoscopy back in a few days. the doctor did say that he could see some signs that there could be celiac disease but couldn't say for sure until the biopsies come back. I would recommend finding a doctor in your area who specializes in celiac disease or at least has it as a clinical interest.... in seattle there are some good doctor searches... dont know about other areas.

tom Contributor
The best medical scientists in this field, the ones who are on our side pulling for us, recommend high-sensitivity antibody and genetics testing, and endoscopy. I prefer their expert opinions over guessing.

The diet IS a test - not guessing.

False negatives on the blood tests are almost unbelievably common & numerous studies show this.

The genetics aren't yet fully understood.

Endoscopies are hit-or-miss.

Am I out of line to assume you found a good Dr w/out going through many years of misdiagnosis?

Isn't the average time to dx still ~11yrs?

veggienft Rookie

Here's something I to put together for myself. You may pay heed or ignore it. It's your body.

Celiac is an autoimmune disease. If the erosion of the small intestine was caused directly by gluten then the severity would be proportional to the amount of gluten ingested. However, celiac intestine erosion is not caused directly by gluten. It is caused by antibodies which the body creates and employs in response to gluten. The body makes essentially the same number of gluten antibodies regardless of the volume of gluten. As such, the amount of intestinal erosion is not proportional to, or dependent on, the volume of gluten ingestion.

Small amounts of gluten produce the same erosion as large amounts of gluten.

Frequency of gluten ingestion is another issue. If you give your gut periodic rests from antibody attack, that would help repair the erosion. And incidentally, one of the primary effects of cortisone steroid treatment is the repair of the intestinal lining. Steroid treatments mask celiac symptoms, and produce negative celiac test results.

You arrived at this question from an attempt to diagnose and cure, not the intestinal damage of gluten, but the systemic autoimmune effects of gluten. People with a single celiac gene have a similar risk of non-intestinal autoimmune effects as people with a pair of celiac genes. Plus, there are twice as many people having a single celiac gene as people having a pair of celiac genes.

A celiac gene pair is composed of an alpha gene and a beta gene. They differ from each other. So people with a pair of celiac genes have one alpha gene and one beta gene. People with only a single gene ........remember, there are twice as many such people ........half of them have a single beta gene, and half of them have a single alpha gene. Celiac antibody tests, and celiac gene tests, test for the presence of the beta celiac gene. Celiac tests are capable of identifying people with a pair of celiac genes (1/3 of celiacs) and people with only a beta celiac gene (1/3 of celiacs). Neither celiac test is capable of identifying the 1/3 of people who carry only the alpha gene.

Logically, structurally, the beta gene might cause more disease than the alpha gene, but there is virtually no research confirming this. Beta-only research shows that single-gene carriers have non-intestinal autoimmune symptoms roughly equal to gene-pair carriers. But gene-pair carriers have intestinal symptoms which dwarf the symptoms of single-gene carriers. The gluten-caused non-intestinal symptoms of single-gene carriers would seem unrelated to diet until diagnosed. An alpha-only carrier could diagnose non-intestinal symptoms only via a gluten-free diet.

Now add this. The advancements in celiac research have come about simply because of people whose HLA-DQ2 gene-pairs caused digestive autoimmune symptoms. They were easily associated with wheat ingestion. The more scientists research other gene-types, the more non-DQ2 celiac they find. In other words, by all indications, there are many more celiac gene-types not covered by the tests.

Celiac disease was the first autoimmune disease with a defined mechanism. It is still the autoimmune disease we know the most about. Research knows VERY little about autoimmune disease. But the more scientists research autoimmune disease, the more diseases they tie to celiac disease.

It's easy to see, people being human, that the portion of the medical community selling the celiac gene test as infallible are doing so out of self-importance. The patients who believe them do so out of a need to define all personal attributes by social structure.

To many people, if it's not defined officially, socially, then it doesn't exist. And the medical community gains authority and wealth providing the social structure required by these people. Doctors are supposed to be scientists. Doctors should all tell patients the known rate of test-reported false celiac negatives, as well as the known and unknown limitations of the tests.

You want to be tested because you want a quantifiable answer ......do you have celiac disease or not. I am telling you, and presumably your doctor is telling you, that a positive test result will tell you that you have celiac disease, but a negative test result will tell you nothing.

In science, they call such confusion "error bars". For peer review and publication scientists must quantify error bars. If the error bars even approach the results, then the results are rendered meaningless. The error bars of celiac tests are so far outside of the results that the results are meaningless.

..

Darkfox021 Newbie
Am I out of line to assume you found a good Dr w/out going through many years of misdiagnosis?

Isn't the average time to dx still ~11yrs?

No, not out of line. If the 11 year thing is true, then assuming I have the disease, you're right in that my doctor figured this out in less time than the average. Based on the current symptoms alone, he's at just under a year. If my acid reflux is attributable to Celiac, then call it ~4-5 years. Still far better than 11, but not as omniscient.

You want to be tested because you want a quantifiable answer ......do you have celiac disease or not. I am telling you, and presumably your doctor is telling you, that a positive test result will tell you that you have celiac disease, but a negative test result will tell you nothing.

Thank you for your post. There's a lot of information there that's helpful. Regarding what I quoted above, I am completely fine with considering a negative blood test inconclusive. I am hoping for a positive test, so that I can be positive I'm fixing whatever problem I'm having now and not in 6 months, or longer, after a diet test potentially fails. I am not interested in having my condition defined as much as I am interested in having it cured. I am not eager to get a biopsy. I'll probably turn it down, if recommended. But, I see absolutely no harm in having the blood test done. There is no down side.

By the way, my doctor has not talked to me about further testing. He scheduled a follow up for a month after prescribing prednisone and suggested I avoid bread. He wants to see how I react to the steroid before talking about any further testing. My symptoms came back after I finished the prescription, so I am sure further testing will come up in my next visit, I just want to be in a position to be able to proceed to further (quicker than a gluten free diet) testing at that point.

tom Contributor
No, not out of line. If the 11 year thing is true, then assuming I have the disease, you're right in that my doctor figured this out in less time than the average. Based on the current symptoms alone, he's at just under a year. If my acid reflux is attributable to Celiac, then call it ~4-5 years. Still far better than 11, but not as omniscient.

Oops, that was meant as part of my reply to CeliBelli, regarding what I saw as overly trusting the medical community w/ regard to celiac diag.

Darkfox021 Newbie
Oops, that was meant as part of my reply to CeliBelli, regarding what I saw as overly trusting the medical community w/ regard to celiac diag.

Understood!

CeliBelli Newbie
The diet IS a test - not guessing.

False negatives on the blood tests are almost unbelievably common & numerous studies show this.

The genetics aren't yet fully understood.

Endoscopies are hit-or-miss.

Am I out of line to assume you found a good Dr w/out going through many years of misdiagnosis?

Isn't the average time to dx still ~11yrs?

Yes, you would be out of line.

I am 44 years old. I've had "stomach" pain since I was 17. I've had increasing cold sensitivity and joint pain since I was in my mid-20's. I've had chronic earaches and sinus infections since childhood. Since then, I've been tested several times for Lupus, in addition to several autoimmune panels. I tested positive for sky high auto-antibodies, but not Lupus or rheumatoid, so it got brushed off as undefinable with no explanation. In response to increasingly severe and persistent abdominal pain, I had ultrasound several time to check liver and kidneys, which came back "fine." I've been shot with cortisone, proscribed prednisone, and taken an array of arthritis drugs that only made my stomach pain worse.

In time, I developed thick calluses on my feet, and then began to feel the pins-and-needles. That progressed to my feet and legs "falling asleep," then my hands and arms. Then shooting pains all over my body. I became peri-menopausal at age 40, and started hot flashes by 42. I had increasingly disturbing and embarrassing bouts of urge incontinence, which eventually progressed to bowel issues. I began losing my hair. I became forgetful, and easily confused. I could not hold an item taken out of the freezer without severe bone pain. Then deep aching bone pain became constant, and unrelated to cold. I self-diagnosed Hashimoto's Thyroiditis at age 42 based on my own research of my own lab results, and my doctor gave me the credit. He'd started the lab results in the face, signed them, and never saw what was developing.

I thought taking thyroid replacement hormones would be the miracle cure. It wasn't. Some symptoms improved, but not for long. By last year, I was beside myself. My doctor was useless. My body was failing fast. My ankles swelled. I had hot flashes constantly. I couldn't wear most of my dress shoes. I couldn't button my jeans without pain. I felt like I was losing my mind. I was short of breath too easy. I felt arrhythmia frequently. I had sinus infections for weeks on end that couldn't be touched by antibiotics. I had a a double ear infection that lasted two months, and responded to nothing. By last August, I was desperate, but didn't know where to turn. Both my ob/gyn and my primary care physician were useless.

I wound up researching the best place to obtain a digital mammogram, because in the middle of all this my ob/gyn thought he felt a breast lump. By accident, I came across the Women's Wellness Center at Hoag Hospital in Newport Beach, CA, 45 miles from where I live in Riverside. After an absolutely wonderful experience at their Breast Care Center, I called the Women's Wellness Center and made an appointment. Since they are considered "alternative" medicine, my insurance didn't cover it, but I didn't care.

I went to them and told them everything that was and had been going wrong with me for 20 years. They took lots of blood. The poked me all over, and took readings of everything. I sat in the psychologist's office, exhausted and scared, and talked and cried for 45 minutes. I want back a month later and went over the lab results and their recommendations. I was seriously vitamin deficient, had no female hormones to speak of, very high indicators of inflammation, borderline anemic, and tested positive on multiple tests for some disease I'd never heard of. They strongly recommended I see a GI.

Which I did. He retested me using the Prometheus Celiac Plus panel, and scheduled me for dual endoscopy/colonoscopy the week after Thanksgiving. By Thanksgiving Day I was in so much pain every meal hurt. But I went home to Colorado and we fixed a big traditional Thanksgiving feast with all the bread stuffing and plumb pudding I could take. A week later, the genetics tests were back and the biopsy was in done. At the age of 44, after a lifetime of chronic illness, I was diagnosed based on the antibody levels, the positive genetics, and cobblestone bunting of my villi. I've attempted to be gluten free ever since.

The Hoag Women's Wellness Center is not oriented to primary care, and the physician there is 50 miles away, so today I am without trustworthy primary care here in my home town. My physician treated me for bronchitis in April with an antibiotic that, while gluten free, messed my gut up badly. I am struggling day to day with the peripheral neuropathy, fallout of malabsorption and recovering from the antibiotics. As of today, my joints are so swollen I cannot wear my wedding ring.

There. I said it. Is that enough of a war story for you?

ravenwoodglass Mentor
My physician treated me for bronchitis in April with an antibiotic that, while gluten free, messed my gut up badly. I am struggling day to day with the peripheral neuropathy, fallout of malabsorption and recovering from the antibiotics. As of today, my joints are so swollen I cannot wear my wedding ring.

It sounds like you have been through the same hell as the rest of us. I had an adverse reaction to the antibiotic Levaquin a while back and it messed my digestion up really badly. Taking digestive enzymes helped a great deal. If you haven't already tried them perhaps they might help heal things a bit.

ravenwoodglass Mentor
The best medical scientists in this field, the ones who are on our side pulling for us, recommend high-sensitivity antibody and genetics testing, and endoscopy. I prefer their expert opinions over guessing.

If I had waited for a diagnosis based on blood work I would be dead now. Without positive bloods the endo was never considered even though I could have been a poster child for celiac. If I relied on gene testing I would by now be in a wheel chair still pumped full of drugs since my celiac gene is considered one for RA here. Unfortunately there is a great deal to be learned about celiac disease, recently there have been 7 more celiac genes recognized. Unfortunately also we are still seeing doctors telling folks that if they are not DQ2 or DQ8 that they couldn't be celiac. Many doctors also fail to recognize that gluten is a neurotoxin and it's relationship to mental illness. Many suffer horribly and are only given drugs that can have some irreversible side effects, like suicide. There is so much to learn that we really have to listen to our bodies after all the testing we want to have done is done.

The truest test is the diet until the mucosal rectal or oral challenge starts being used. But wait they don't like that one because it is too often postive and can diagnose us before we are almost dead, ie. total villi destruction.

nora-n Rookie

veggienft, there seem to be new standard tests out there that test for the alpha chains and beta chains at the same time, Kimball genetics seem to have the same test as Rikshopsitalet here in Oslo, Norway, Europe. I found it on the lab sheet they have online in pdf format.

For explanation of hte alpha chain and beta chain, see the wikipedia article on DQ Open Original Shared Link (the DR wiki page is useful to for interpreting research articles on the net.)

Thi test kit checks for half DQ2 genes but not for half DQ8 genes, see the explanation at the Kimball genetics webpage and I saw it on the Rikshopsitalet page. The alpha chain on DQ2 has some action in celiac by itself but they do not rutine check for variants of the DQ8 gene I think.

See this recent discussion where Kimball genetis sent the specimen to a larger lab and they found DQ8:

Open Original Shared Link

A celiac gene pair is composed of an alpha gene and a beta gene. They differ from each other. So people with a pair of celiac genes have one alpha gene and one beta gene. People with only a single gene ........remember, there are twice as many such people ........half of them have a single beta gene, and half of them have a single alpha gene. Celiac antibody tests, and celiac gene tests, test for the presence of the beta celiac gene. Celiac tests are capable of identifying people with a pair of celiac genes (1/3 of celiacs) and people with only a beta celiac gene (1/3 of celiacs). Neither celiac test is capable of identifying the 1/3 of people who carry only the alpha gene.

Logically, structurally, the beta gene might cause more disease than the alpha gene, but there is virtually no research confirming this. Beta-only research shows that single-gene carriers have non-intestinal autoimmune symptoms roughly equal to gene-pair carriers. But gene-pair carriers have intestinal symptoms which dwarf the symptoms of single-gene carriers. The gluten-caused non-intestinal symptoms of single-gene carriers would seem unrelated to diet until diagnosed. An alpha-only carrier could diagnose non-intestinal symptoms only via a gluten-free diet.

Now add this. The advancements in celiac research have come about simply because of people whose HLA-DQ2 gene-pairs caused digestive autoimmune symptoms. They were easily associated with wheat ingestion. The more scientists research other gene-types, the more non-DQ2 celiac they find. In other words, by all indications, there are many more celiac gene-types not covered by the tests.

..

If one reads the DR wiki page, there are several different DQ8 but I do not know wether that complicates detection

nora

CeliBelli Newbie
If I had waited for a diagnosis based on blood work I would be dead now. Without positive bloods the endo was never considered even though I could have been a poster child for celiac. If I relied on gene testing I would by now be in a wheel chair still pumped full of drugs since my celiac gene is considered one for RA here. Unfortunately there is a great deal to be learned about celiac disease....

The truest test is the diet until the mucosal rectal or oral challenge starts being used. But wait they don't like that one because it is too often postive and can diagnose us before we are almost dead, ie. total villi destruction.

Raven,

I am not suggesting that people who go through all the testing, but who seem to match the Celiac profile, shouldn't try the gluten-free diet as a form of elimination testing. My concern is that there are far too, too many people on this website waving people away from getting the blood work and endoscopy done at all. And that is a mistake. If someone has been advised by a doctor to get tested, they should, and we should all support them doing so.

Because the testing coming on the market now is far more sophisticated now than it was even a few years ago, and we should all take advantage of that if we can, and encourage others to do so, too. If someone finds a doctor who has enough sense to recommend the tests, we should support that doctor's recommendations, too, because there are so few doctors that recognize the symptoms and make the right call to pursue that line of inquiry and testing.

If we want the medical profession to pay attention and support us, we must be willing to support them when they do the right thing. All too often doctors don't make recommendations when they know they should because, in their experience, patients don't take their advice, so they stop giving it. We shouldn't promote that kind of environment with Celiac Disease. We should advocate for good science so good science will advocate for us.

That said, if all the most sophisticated testing a person can get their hands on turns up negative, or if they can find no competent medical care anywhere, then trying the diet as a test can do no harm, and may do good. But, because doing a gluten challenge is so much more painful and disruptive once a person has gone gluten-free, and because the results are much more likely to be inaccurate, I could never advocate that a person try the diet first before trying the formal testing.

Celibelli

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