This blog has been a long time coming.
I’d wondered about gluten sensitivity in regards to my own health since graduate school – so the mid 90’s. Almost 20 years ago. In graduate school, I used the Bastyr Clinic but I didn’t really have a primary care doctor… and really, Celiac disease wasn’t on the radar like it is today. By graduation in 1998, I had long given up most gluten. After grad school, I married and had insurance. I eventually requested that my doctor run the Celiac test and it was negative. So I dabbled with gluten. Sometimes a little, sometimes a lot. But for years, I dabbled.
I always seemed to struggle with anemia. I was easily known as the natural medicine girl. No drugs for me, thank you. But my fatigue was bad enough at one point that I resorted to diet soda. Not exactly a drug, but in my mind certainly a poison. I don’t like coffee and all my friends drank diet soda – why not? I was desperate and desperate times call for desperate measures. I certainly needed the “energy in a can”. I remember taking my diet coke and walking to see our Chief Medical Officer about my fatigue. See? Look what I’ve resorted to! I am drinking diet soda! Obviously something is wrong here. I was so tired I wanted to cry. She suggested some basic lab work to look for anemia. Yes, of course. Why didn’t I think of that? Well, brain function isn’t optimal with anemia so lots of things weren’t really working right.
Yes, I was anemic and so I took iron. In time I felt better, even great. Yet I am a high maintenance health girl even though I eat better than most and enjoy exercise. I had a bi-lateral hip disease as a kid and was told I’d need a hip replacement or two someday. I blamed my joint pain on the former hip disease, even though MRI’s showed no issues. My dentist would point out that my teeth were chipping a little. Small things here and there.
And then the world changed. It was May of 2012. I remember the moment like it was yesterday. I was sitting with my long-time friend and colleague who also attended Bastyr and we were listening to Shelley Case discuss Celiac disease. Shelley said things like:
- “We don’t know where to put Celiac disease in the medical text books anymore – it can and does affect every organ system in the body – it’s no longer a disease of weight loss and diarrhea. It can manifest as joint pain, brain fog, weight gain, migraines, irritable bowel, mental illness – anything goes.”
- “If you see a patient who has osteopenia or osteoporosis…or anemia…….or God forbid both, You Better Be Thinking About Celiac Disease”
- Then she said “These are Celiac teeth”. She had a picture of my front teeth with the ridges along the bottom, on the screen.
That my friends, was the nail in the coffin. My world changed forever. Lots of what she was saying rang true on some level. Now the teeth. We even have the family history. But, the test was negative. How’s that?
That day led me on a journey and I’ve learned a lot and am now here to share it with you. That is why this blog has been a long time coming. You’re about to find out how and why a blood test, or biopsy even, can be negative but Celiac may still be the root cause of your un-wellness.
First, some facts you’ll need to get the big picture.
What is the prevalence of Celiac Disease?
It wasn’t that long ago that we thought Celiac affected 1 in 10,000 people. Docs were taught it was rare. They’d probably never see a case in practice. That changed in February of 2003 when Dr. Alessio Fasano’s research showed it affects 1 in 133 and most don’t know it. It’s considered a “multi-organ” disease. Just like Shelley said, it can affect about anything so connecting the dots becomes an art. Gone are the days that this is just a diarrhea/weight loss disease. It’s especially hard to connect the dots when your provider only has an average of 7 minutes with you and unless you know what information to tell him, he likely won’t have enough dots to connect. It makes diagnosis a long road. On average 7 to 11 years.
Signs and Symptoms
The patient may have joint pain. She may even be diagnosed with Rheumatoid Arthritis although no RA antibodies are found. Yes, there is tissue damage per an x-ray but still no antibodies. The patient may have ridges on her teeth, enamel changes (yellow or brown opacities), rough enamel, horizontal grooves, pitting. The patient may have abdominal pain, perhaps has been diagnosed with “IBS – Irritable Bowel Syndrome” which is really just a title that means we don’t know what is wrong with you. She may be overweight, not underweight. Try as she might, she can’t lose weight. She could be constipated. She might have trouble with balance, coordination, and concentration. She might have signs that appear like a heart attack even! And how about those mood swings, depression, or anxiety? Migraines? Anemia? Bone loss in her 40’s? Fatigue? As stated, it can be anything! A better list here but certainly not an exhaustive list.
What about the genes involved in Celiac?
What you also must understand is that Dr. Fasano and other Celiac experts tout that if you don’t have the gene, you pretty much can’t have Celiac disease. 95% of those with Celiac have the DQ2 gene. The rest have the DQ8 gene. There are (4) alleles between the genes so one must test both genes – or look in all 4 places – to determine if DQ2 or 8 are positive. To clarify, having the gene doesn’t make you a dead ringer for Celiac disease. It is a requirement but having it doesn’t mean the gene will be expressed unless the right circumstances occur. Just like carrying the gene for breast cancer- it doesn’t mean you will have cancer, but you are at risk.
The blood tests used are:
Anti-Tissue Transglutaminase (tTG) which can be IgA based or IgG based. I know you aren’t an immunologist but there’s a bit of this I must try to convey. Our bodies make antibodies and they can be IgG, IgA, IgM, IgE and even subtypes of those. Some individuals have an IgA deficiency and it occurs more often in people with Celiac disease. In fact, 1 in 10 with IgA deficiency will go on to have Celiac disease. If the ordering doctor doesn’t identify IF you make IgA, giving an IgA based test is of no value. So what the doc should do is order a total IgA and an IgA-tTG. If it turns out you don’t make IgA, he/she will know to do another type of test. But if he/she doesn’t specialize in this or stay current with new information, and only orders an IgA-tTG, you too could be a false negative.
Now, even if the ordering doc orders an IgA and IgA-tTG……..or an IgG tTG to avoid that whole IgA issue, the tissue transglutaminase test on a good day misses 1 in 10. Nothing is perfect. However this is the test that the American Gastroenterological Association recommends. It’s an automated test and as such it’s the cheapest screening test we have. If it’s positive – great. We didn’t waste a bunch of your $ unnecessarily. What I think happens too often though is it comes back negative and no further testing is completed. If you or your doctor strongly suspects that you have Celiac, you should keep digging.
The EMA test is not automated, making it more expensive due to time involved. And it can be prone to human error. However, if the radiologist is well trained and the result is a positive test, no other disease besides Celiac would cause a positive result.
The DGP test is gaining popularity as it is more accurate than the anti-gliadin antibody test (the one I had) and possibly more accurate than the tTG test. The NIDDK reports it might be the best way to test people who do have an IgA deficiency.
Then there are Celiac panels which includes all of these tests. Think of it as covering all the bases since nothing is 100% perfect – the best test we have relies on humans and we make mistakes too. If I strongly suspect Celiac, this is my preference. It’s a one-shot deal and within a couple weeks the picture should be a whole lot clearer.
The Gold Standard – a biopsy
A biopsy of the small intestine, with samples taken from the duodenal bulb, is considered the gold standard. It is perfect? I wish. Celiac can be patchy. If not enough samples are taken, or if samples aren’t taken from the duodenal bulb, Celiac disease can once again be missed. Tissue damage also is staged. Stage 1 is minimal tissue damage. Stage 2 – more. Stage 3a, 3b, 3c – even more yet. Stage 4 is total villous atrophy with crypt hyperplasia. Stage 4 is Celiac. What do we do if you are a 3a, have the genes, signs and symptoms? Stay tuned.
You must be eating gluten during testing – blood or biopsy. If you have done a trial of gluten free before adequate testing, you are jeopardizing an accurate diagnosis and we already have enough variables to worry about.
- Celiac can present with almost any collection of signs and symptoms. In fact, many don’t have any symptoms (yet) and so don’t even know to be screened.
- To get Celiac disease, you must carry at least one of the (2) genes.
- You must be eating (enough) gluten when the test or biopsy is performed or you will likely get a false negative result. By the way, you must be eating gluten for several weeks prior to testing. Exactly how long seems to be in debate.
- Our blood tests aren’t perfect.
- A biopsy isn’t 100% fool proof either.
- If you aren’t full blown Celiac, you might get a false negative whether you test via blood or biopsy. It takes someone who specializes in this to help you navigate the terrain.
What’s a gal to do?
IMO, there’s no perfect path.
It might be best to identify if you carry the gene 1st. Not that this is the path the AGA recommends but it makes sense to me. If you are negative for the gene, don’t worry about all the blood tests and biopsies.
If you do have the gene, now decide if you can afford to do the panel. Cover your bases. If you have great insurance and a willing doc, this would be my next step personally.
If you have the gene, but can’t afford the whole panel, you could start with an IgG and IgA tTG. But if they are negative and that little something in you says it really could be pre-celiac, keep going. Ask for another test (EMA or DGP) or ask for a biopsy and have the tissue damage staged.
What do I do now that it’s too late to have a definitive diagnosis for Celiac?
I act as if I have Celiac. Someday I’ll have the gene test but I have enough signs and symptoms so I’ve just made the leap in my head. I NEVER cheat and I’ve trained my husband so he won’t accidentally cross-contaminate me since he still eats gluten.
I’d be happy to be part of your health care team. If you already know you have Celiac but haven’t taken it very seriously, I can help. If you have Celiac, and you do take it seriously, but still struggle with pieces of your health, I can still help you identify if you have specific nutrient deficiencies or identify other foods that also may be a trigger. If you are just beginning this journey, I can help you navigate the terrain and make some of these decisions with you.
- My head – years of lectures, books, and discussions on list serves with colleagues
- JPGN Vol 54, Number 1, January 2012 https://healthylifestylesmt.com/wp-content/uploads/2013/05/Guidelines_on_coeliac_disease_testing.pdf
- Living Without Magazine Oct/Nov 2010 https://healthylifestylesmt.com/wp-content/uploads/2013/05/Celiac-tests-from-living-without.pdf
- DIFM newsletter: https://healthylifestylesmt.com/wp-content/uploads/2013/05/Celiac-and-T1DM-DIFM-Newsletter-Dr.-Dean.pdf
Another blog on Celiac here
A couple favorite gluten/grain free recipes