You can now seek genetic testing to see if you’re at 400% more risk for gluten sensitivity and/or Celiac Disease.
Before I get into the specifics of the test, here’s a quick summary of what’s been going on…
Gluten and Celiac Disease
Celiac disease is an autoimmune and inflammatory disease of the small intestine triggered by gluten – a protein found in wheat, rye and barley products (pastries, cereals, pastas, breads, flours, some sauces etc).
When genetically susceptible people eat gluten, they may experience a mild to severe immune reaction – leading to poor absorption of nutrients and gastrointestinal distress.
While it is becoming “standard of care” to screen for celiac disease in individuals with irritable bowel syndrome, iron deficiency anemia or unexplained arthritis (1), many health professionals still do not recognize that gluten sensitivity can occur in the absence of any signs of celiac disease (2; 3).
This is partly because celiac disease is difficult to diagnose and associated with a wide spectrum of patient symptoms and may even be symptomless (4).
It is estimated that only 10-20% of individuals with celiac disease have been diagnosed (5).
That means that up to three million Americans are walking around with significant intestinal damage that warrants a celiac disease diagnosis and do not even know it.
Making matters worse, even more Americans are walking around with a sensitivity to gluten and are unaware.
Thousands of them could be eating a slice of gluten-rich pizza right this very moment.
Did I mention that it can be completely symptomless, while beneath the surface a firestorm could be brewing?
Ask anyone with celiac disease, firestorms and the gut do not mix well.
The Difference Between Gluten Sensitivity and Celiac Disease
The only difference between celiac disease and gluten sensitivity is damage to the intestine.
Gluten sensitivities happen on a spectrum, with damage to the intestinal mucosa occurring in more progressed cases.
Your intestines perceive no pain until damage has progressed into deeper tissues.
Why wait until you have damage to your intestines before deciding: “Eh, I guess it’s time to go gluten-free”?
But that’s exactly what most doctors do – they wait until you have damage to your intestinal lining to tell you that gluten could be a culprit.
It can be incredibly frustrating to undergo rounds of gastrointestinal testing and still not have any real answers or action steps given to you.
So although you may not have Celiac disease, you may still be sensitive to gluten and ultimately benefit from a gluten-free diet.
Yet, most doctors do not recognize alternative means of testing and still wait for a intestinal biopsy before recommending a gluten-free diet.
But at that point of diagnosis, the disease can be extremely difficult to manage.
And, in rare cases the inflammation continues even after removing gluten completely from your diet.
So how do you know?
Genetic Testing for Risk of Gluten Sensitivity and Celiac Disease
You can now seek genetic testing to find out if you’re at risk for gluten sensitivity and/or celiac disease.
There is a strong genetic association between celiac disease and the genes: HLA-DQ2 and HLA-DQ8.
- 90% of celiac disease patients carry the HLA-DQ2 gene, while the remaining 10% express the HLA-DQ8 gene (6).
- Carriers of the HLA-DQ2/8 genes have an approximate 400% increased risk of developing celiac disease (9).
- Some doctors have theorized that up to 81% of Americans may be carriers of the HLA-DQ2 or -DQ8 genes!
- Individuals with the most risk are those with first-degree relatives or siblings who have already been diagnosed with celiac disease (as much as 2000% increased relative risk!) (10).
Having the gene markers does not mean that you suddenly have celiac disease or gluten sensitivity as other factors are involved.
It does warrant active screening for a gluten sensitivity.
And, a positive test is almost 100% necessary for celiac disease to exist.
So testing can be very valuable to you if you are wondering whether gluten is a possible culprit for your health problems, or to assess whether its something that may run in your family.
Aside from genetic risk, other lifestyle factors influence who develops celiac disease or not:
- In what period of development was gluten introduced into the diet?
- How much gluten was given?
- Was your mother breastfeeding before/during/after you were introduced to gluten?
- How long were you exclusively breastfed (if at all)?
- How much gluten are you currently consuming?(11; 12; 13).
Even in the presence of HLA-DQ2 and HLA-DQ8 genes, doctors will still wait to confirm a diagnosis with an intestinal biopsy before recommending a gluten-free diet.
What they are looking for is flattened villi – the absorptive folds that increase the surface area of the small intestine and allow for optimal nutrient absorption. Often, their findings can be inconclusive.
A Pandemic in Motion
You might have noticed that the gluten-free sections of grocery stores have doubled and tripled in size.
Consumers are speaking with their wallets.
Despite gluten-free diets being less convenient, more expensive, and (perceived as) less tasty, the gluten-free movement has been moving at incredible pace.
With few clinical exceptions, all that I’m saying is that it doesn’t hurt to try a gluten-free diet.
1.) Try a 30 day elmination of gluten, see how you feel. Reintroduce it and see what happens. All of my clients receive a detailed, comprehensive 30-day food plan complete with 6 weeks of recipes, shopping lists – so detailed that each item on your grocery list is number-coded to the individual recipes. (At the very least, try 14 days).
2.) Undergo comprehensive saliva, serum, or stool testing (in order of increasing sensitivity & expense) to screen for active antibodies. False negatives (negative test when you are actually positive) can be common, and gluten may not be the only culprit.
Despite the wide variety of testing available, the medical community still resorts back to a small intestine biopsy prior to making any recommendations.
The problem I have with intestinal biopsies is that you need substantial damage to the intestine to be present for the test to come back positive.
In my experience, medical reports often remain “inconclusive”, and clients are still subjected to endoscopies, colonoscopies, and other gastrointestinal imaging tests searching for a definitive diagnosis..
Why does it matter?
Because patients like you are still left scratching their heads on where to turn next when they may benefit considerably from a trial of a gluten-free diet.
Personally, I’d rather try something and see if I notice a benefit, rather than waiting on answers that may never be found.
But that choice has to be between you and your health professional.
Why is Traditional Celiac Testing Undependable?
10% of celiac patients do not show antibodies to wheat.
Test results can be complicated if clients are:
2.) Taking immune-suppressing medication (such as Prednisone)
3.) Already undergoing a gluten-free diet
What About Malabsorption?
Most of the complications of celiac disease are due to malabsorption of nutrients (15).
Malabsorption can be present before damage to the intestine occurs & even before a gluten-sensitivity is evident, and is not something you “feel” going on.
It is important to realize that malabsorption reflects a functional impairment, not necessarily a physical malady.
So while traditional testing methods have their strengths and weaknesses (and sometimes overlook the issue of malabsorption), it is clear that:
As long as medicine sticks to traditional means of screening for celiac disease, it will remain under-diagnosed (16).
Why wait for hundreds and thousands of dollars of testing when the treatment could still come back to one thing – a gluten-free diet.
- Serum and saliva testing can be undependable.
- Stool testing can be expensive & less convenient.
- A biopsy can be inconclusive or confirm problems too late in the process.
This is why genetic testing for “HLA DQ2” and “HLA DQ8” could be one of the most useful & cost-effective tests.
HLA DQ2/DQ8 Testing
The lab I use charges $179 for testing, but the fee can be as low as $100 when added to other tests.
(I earn nothing from the testing fee)
Consider testing if you want to confirm a suspected gluten sensitivity or rule it out completely.
- A positive test affirms risk – you would still need to try an elimination diet and/or have a biopsy performed to confirm a diagnosis.
- Medical professionals will still rely on a biopsy to affirm a celiac disease diagnosis, but the treatment is still the same: a gluten-free diet.
- Again, the only difference between a gluten sensitivity (unrecognized by many health professionals) and celiac disease is that celiac disease is associated with measurable damage to the small intestine.
Since the writing of this post, the July 24th, 2012 issue of the American Journal of Gastroenterology published a paper entitled “Non-Celiac Wheat Sensitivity Diagnosed by Double-Blind Placebo-Controlled Challenge: Exploring a New Clinical Entity”. The authors concluded:
Our data confirm the existence of non-celiac WS [/fusion_builder_column][fusion_builder_column type=”1_1″ background_position=”left top” background_color=”” border_size=”” border_color=”” border_style=”solid” spacing=”yes” background_image=”” background_repeat=”no-repeat” padding=”” margin_top=”0px” margin_bottom=”0px” class=”” id=”” animation_type=”” animation_speed=”0.3″ animation_direction=”left” hide_on_mobile=”no” center_content=”no” min_height=”none”][wheat sensitivity] as a distinct clinical condition. (18)
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