Reasons to get a Definitive Diagnosis

It’s no secret there is growing mainstream interest/curiosity in the gluten-free diet/trend. I’ve been noticing a lot of people starting the gluten-free diet without knowing the potential pitfalls of doing so without having proper testing done first. Many later want some definitive answers about their failing health.

In order to get the best possible answers, it’s best to follow a certain diagnostic protocol, and these are my reasons to do so:

1. The gluten challenge sucks
1. I’m being frank with this one. I’m not sure there is a better way to put it, but ultimately, the gluten challenge sucks. Most people I know who have tried it didn’t last more than a day or two.
2. Repeat after me “The blood test and biopsy for celiac disease require you to be consuming gluten for accurate results.” If you remove gluten from your diet prior to having any testing done, you will have to reintroduce it in order to have the tests done. It sounds like no big deal until you deal with the symptoms of consuming gluten again. If you don’t have celiac disease, it’s unlikely you’ll react to it, but if you do have celiac disease (or any other gluten-related disorder), you’ll likely be miserable.
3. Different research centers have different recommendations, but the gluten challenge requires you to consume anywhere from a bite of gluten to four pieces of bread per day from anywhere from a week to twelve weeks (all depending on who you ask). My opinion is that I would be eating the highest amount recommended for the longest period recommended to ensure my results were going to be positive if there were any doubt. Who wants to go through a week of torture only to get negative results and then question if the results were accurate because you might not have consumed enough for a long enough period of time?
2. Insurance
1. Future medications: Imagine the day when a medication is developed to either prevent damage from cross contamination or allow you to eat gluten. Now imagine the cost of new medications before a generic is available (these are often thousands of dollars). Now imagine your insurance company will only cover the medication if you have a definitive diagnosis. Now imagine how badly you want a time machine so you can go back in time to get a definitive diagnosis.
2. Additional diagnoses: It is common for those with one autoimmune disease (ex. celiac disease) to have additional autoimmune diseases. Many insurance companies require pre-authorization for testing because the tests are expensive. If you have celiac disease, it is likely they will approve the testing, but you could be in for a fight if you can’t prove you have celiac disease.
3. Adherence to the diet
1. According to the University of Chicago Celiac Disease Center, studies have shown individuals are more likely to adhere to the gluten-free diet correctly with an accurate diagnosis via blood work and biopsy.   
2. Those without positive results on both tests tend to cheat more often and be less careful.
4. Questioning the diagnosis
1. What if your symptoms don’t resolve completely? Say you still feel sick… is it refractory sprue where you won’t respond to the gluten free diet… or are you still mistakenly consuming gluten… or do you have other food intolerances… or did you actually have a different condition altogether that happens to respond positively but is not treated by a gluten-free diet?
2. Without a definitive diagnosis, the only way to find out if it’s for sure celiac disease is to start consuming gluten again and get tested. If you have any sort of gluten intolerance (and a condition that responds well to a gluten free diet), this process is going to be torture or impossible. Wouldn’t it be easier to get the accurate tests done in the first place and then look into other possibilities if the test for celiac disease is negative?
3. There is nothing saying you can’t adopt a gluten free diet if your test results are negative, but you’ll at least know it’s probably not actually celiac disease. This is invaluable if your symptoms don’t resolve so you know to be looking for something else.
5. Diagnosing additional conditions
1. The endoscopy can also reveal other issues going on. There are a lot of other conditions that commonly occur to those with celiac disease. Some of these can be diagnosed via endoscopy, so you have the potential of killing two (or three or four) birds with one stone.
6. Obtaining a baseline
1. The endoscopy is rated on what is called a Marsh Scale. Marsh I is the lowest amount of damage, whereas Marsh IV is completely flattened villi.
2. Knowing your Marsh score is helpful in cases where symptoms aren’t resolving. Your GI doctor may recommend a follow up endoscopy to check for healing to see if you are healing slowly or not at all.
7. Inaccurate results (false positives)
1. Although rare, it is possible to receive a positive test result on either the blood test or biopsy and not actually have celiac disease.

   

   Courtesy of the University of Chicago Celiac Disease Center

2. According the University of Chicago Celiac Disease Center, “tTG is falsely positive in about 2-3% of people in general, but in about 20% of those with Type 1 Diabetes or other autoimmune conditions.” What if your results were positive due to other autoimmune conditions other than celiac disease?
3. According to the Center for Celiac Research, the University of Chicago Celiac Disease Center, and many other top celiac research centers, there are multiple other potential causes for small intestinal villi damage which results in a positive test result during biopsy. This includes, but is not limited to:
1. Other food intolerances
2. Parasitic infections
3. Intestinal lymphoma
4. Tropical sprue
5. Crohn’s Disease
6. Radiation from cancer

   

   Other conditions that cause villus atrophy
   courtesy of the University of Chicago Celiac Disease Center

   

   Courtesy The Tender Foodie interview with Dr. Alessio Fasano

8. The genetic test is a screening tool only
1. Unfortunately, the genetic test for celiac disease only shows the predisposition to developing celiac disease. Testing positive for one or both genes only means that you could develop celiac disease--it does not have any way of telling you if you have it.
2. It is estimated that 30-40% of the population has the genes for celiac disease, but only approximately 1% of the population ever actually develop celiac disease.
3. The genetic test is generally only meant to “rule out” celiac disease.

There is a new diagnostic tool that is gaining wider and wider acceptance. This specifically mentions the biopsy via endoscopy may not be necessary because it requires you to be diagnosed through 4 out of 5 markers rather than through blood test, biopsy, and positive response to the gluten free diet. Dr. Alessio Fasano, from the director of the Center for Celiac Research, is a strong advocate of this new tool. The five markers are:

1. Symptoms
2. Positive blood test
3. Genetic compatibility
4. Intestinal biopsy
5. Resolution of symptoms on a gluten free diet

My issue with this method is that it requires 4 out of the 5 things to happen. If you skip the blood test or biopsy and start a gluten free diet, you are automatically down to a maximum of four that can be confirmed. One of the criteria is a response to the gluten-free diet. If your symptoms improve, but don’t resolve, then you’re stuck. Do you go back on gluten so you can get the fourth marker and have the biopsy or blood test done? What if you’re gluten intolerant and something else is actually going on. You’ll never know if it is celiac disease because you’re stuck at a maximum of three markers unless you choose to do a gluten challenge. It can also be hard to get insurance to cover the genetic test because genetic tests are expensive, and it doesn’t seem insurance companies have caught up with the research on testing.

With all of this being said, I highly encourage you to find a doctor who knows what they are doing with the tests. The last thing you want to do is prolong your suffering because the wrong tests were run or they were run incorrectly resulting in inaccurate results. I’ve seen so many accounts of individuals being misinformed regarding the diagnostic process which leads them to skip testing, get inaccurate tests, etc.