This article about the diagnosis of celiac disease contains affiliate links and is in no way meant as a substitute for medical advice. Please see my disclosures and disclaimers for more information.
It has been said that 80 percent of people living with celiac disease haven’t been diagnosed… yet.
Unfortunately, people can go months, years and even decades suffering from a variety of ailments without knowing that their symptoms are undiagnosed celiac disease.
Many people have told me that getting a diagnosis of celiac disease was a long, trying, challenging and frustrating experience. The average length of time it takes for a symptomatic person to be diagnosed with celiac disease in the US is four years!! Many people have no idea that their inflammatory symptoms might just be undiagnosed celiac disease.
If you suffer from any sort of inflammation, or any of these 30 tell-tale celiac disease symptoms, it’s wise to get checked for celiac disease. If it’s celiac disease, you can immediately extinguish your symptoms through a gluten-free diet, if not, you can pursue other avenues to understand the root cause of your chronic pain.
In this blog post, I will discuss the possible five steps you may need to take on your path towards getting a celiac disease diagnosis.
Ed. Note: Don’t stop eating gluten until you you have been tested for celiac disease and even a gluten sensitivity. You must have gluten present in your body for such diagnostic tests to be accurate. (Please read: STOP, Don’t Go Gluten-Free Until You Read This.)
Diagnosis of Celiac Disease: Five Factors
(1) Know the Signs and Symptoms
If you have any of these celiac disease symptoms, you may have celiac disease. Remember, celiac disease manifests itself in your gut (small intestine) and it can create great digestive discomfort, nervous system disorders (depression, anxiety, migraines), skin rashes, vitamin deficiencies, fatigue, infertility and more.
If you suspect celiac disease is the root cause of your chronic symptoms, be sure to discuss it with your doctor. This is your first step on your path to getting a diagnosis of celiac disease.
(2) Get a Blood Test
More likely than not, if you exhibit one or more symptoms of celiac disease, your doctor will recommend doing a blood test to check for celiac disease antibodies. The most commonly used test is the tTG-IgA test. Remember, you must be eating gluten in order to get accurate results.
I’m looking at my blood test results at the moment and see my doctor tested me for a variety of things, including celiac disease, when I complained to her about my painful and chronic bloating.
I tested positive for Endomysial Antibodies IgA class. This means antibodies to endomysium, the thin connective tissue layer that covers individual muscle fibers, was detected in my blood. I also was tested for Transglutaminase (TG) IgA and my value was 10. Normal values are 0-3. Anything 10 or greater is considered positive for celiac disease. The endomysial IgA antibodies have over 99% specificity for gluten sensitive enteropathy or celiac disease. In other words when you get a positive IgA test, you have, with 99% certainty, celiac disease. However, if you get a negative test, it doesn’t mean you don’t have celiac disease, especially if symptoms are present, and more testing may need to be done.
(3) Look for Intestinal Damage
Should you have signs and symptoms of celiac disease, and/or have a positive blood test, your doctor might suggest you undergo an endoscopy procedure so they can view and biopsy your small intestine. As mentioned prior, while the blood test for celiac disease is 99% accurate if it’s a positive diagnosis of celiac disease, there are some false negatives. Through both a visual examination and biopsy of your small intestine, your doctors will get a better idea if you have celiac disease. A biopsy is considered the “gold standard” diagnostic test.
Your doctor is looking for flattened and damaged microvilli along the small intestine. Villi are the hair-like follicles surrounding the small intestine that are responsible for nutrient absorption and distribution. Flattened and damaged villi indicates celiac disease. Ironically enough, normal villi are present in people with gluten sensitivities. (Read Gluten Sensitivity vs. Celiac Disease)
I waited four months before getting the endoscopy after my positive celiac disease blood test, mainly because it took awhile for me to find a good GI doctor and then to get on his calendar for both a consultation and endoscopy. I recommend getting the biopsy done as soon as possible and before going gluten-free.
I was officially diagnosed with celiac disease through a blood test on April 17, 2012, and I did the endoscopy to confirm the original diagnosis of celiac disease on August 22, 2012. My doctor told me he was worried that he might not be able to detect celiac disease since I had been on a gluten-free diet for four months already… but for better or worse, both the visual examination and biopsies were positive for celiac disease. My gut was far from healed even four months into this gluten-free diet!
(4) Presence of Genetic Markers
While genetic testing is not needed in the protocol in diagnosing celiac disease, some doctors want to have their patients undergo genetic testing.
Dr. Alessio Fasano says in his book, Gluten Freedom, that people with celiac disease must carry genes HLA-DQ2 or HLA-DQ8. However, just because someone has these genes, it does not mean they automatically have celiac disease; rather, it means this person simply has a predisposition towards testing positive for celiac disease. (Read, “What Causes Celiac Disease?” to understand the three things needed in order for celiac disease to manifest – genes are only one part of the equation.)
Genetic testing is often done for people who are a first degree relative of someone with celiac disease (parent, child or sibling), but who has a negative blood test for celiac disease.
(5) Symptom Resolution
If all tests come back inconclusive for celiac disease, yet there are genetic markers indicating a genetic predisposition to celiac disease, someone can go on a strict gluten-free diet (under a health coach and medical professional’s direction and supervision) to see if their symptoms resolve.
While symptom resolution may simply mean you have a gluten sensitivity vs. celiac disease, you now know that gluten is the trigger food behind your inflammation and you should avoid eating gluten just as someone with celiac disease would do.
What’s Your Path?
Remember, there is no one-size-fits-all approach to getting a diagnosis of celiac disease; however, it’s important to remember that many doctors may not know or understand celiac disease. It is your job as the patient to come to your doctor appointment prepared to share what you know about celiac disease, and to ensure you get the proper tests along the way.
As always, YOU are your BIGGEST and BEST health advocate.
Read my celiac disease diagnosis story here.
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