3 Steps to a Celiac Disease Diagnosis
You’ve been experiencing some discomfort, pain, or simply feel unwell. You go to the doctor to try to find out what’s wrong. At what point should the topic of celiac disease and getting tested come up? If it does, what happens next?
Diagnosing celiac disease can be challenging, but understanding when testing is warranted can make it easier to pinpoint. We spoke with Dr. Dale Lee, MD, Pediatric Gastroenterology at Seattle Children’s Hospital, for a doctor’s perspective on diagnosing celiac disease.
The Many Symptoms of Celiac Disease
“The symptoms that warrant being tested for celiac disease are extremely broad,” says Dr. Lee who adds he encourages people to have a low threshold for testing. “Even if there is something minor that concerns you, it’s worth having a discussion (with your physician) about doing some testing.”
For children, especially younger ones, there are two common concerns that could warrant looking into celiac disease: difficulty gaining weight and not growing in height. Dr. Lee points out that less than 25% of young children diagnosed with celiac disease have what is considered the “classic” presentation of celiac disease: diarrhea, distended belly, along with poor weight gain. This “classic” presentation is not very common, so not having these specific symptoms does not eliminate the possibility of celiac disease.
More common is a broad range of celiac disease symptoms that can make diagnosis challenging, from gastrointestinal ones like vomiting, belly pain, diarrhea, or constipation to neurological and nervous system issues like fatigue or low energy, brain fog, headaches, and weakness. Some may develop a rash, called Dermatitis Herpetiformis, in reaction to gluten, while others could experience joint pain or a breakdown of tooth enamel.
See our article: Celiac Disease Explained: Through Ages & Stages
As a person with undiagnosed and untreated celiac disease matures, they can present additional symptoms, including delayed puberty, late or missed periods, and difficulty getting pregnant. Confusion with diagnosis can arise because of the wide variety of symptoms that could also signal other conditions.
Testing for a Celiac Disease Diagnosis
What needs to be in place to properly look into celiac disease as a possible cause of the symptoms you’re experiencing? Having a family history of autoimmune disease or celiac disease could mean you are at risk, but there are other factors involved. Here’s what typically takes place when getting diagnosed for celiac disease.
1. Gluten consumption must be happening.
In order to get accurate test results, you must be consuming gluten at the time you may be tested. This requirement can feel like a double-edged sword. On the one hand, you want to get tested and get to the bottom of why you feel so sick. On the other hand, if eliminating gluten from your diet has been alleviating your symptoms, going back to consuming gluten can be unpleasant or even painful. If you are already on a gluten-free diet, testing will not give you accurate results.
“Being able to get tested in a fairly expedited fashion is important, and working with a primary care practitioner is important,” says Dr. Lee, in order to get accurate results with the least amount of discomfort or continued damage to your body.
2. Your bloodwork shows specific elevated antibodies.
The next step to diagnosing celiac disease is a basic and accurate blood screening to look at your Immunoglobulin A or IgA level. Dr. Dale explains, “Immunoglobulins are antibodies that your body produces, and there are a variety of different classes of immunoglobulins. The IgA class is important for celiac testing.”
Then you’ll receive a screen test called the Tissue Transglutaminase IgA antibody or tTG-IgA, an antibody against an enzyme found in the lining of your GI tract. When these levels are elevated, it is a likely sign that you’re at risk for celiac disease. An important thing to note is that these elevated antibodies don’t always mean you have celiac disease. They could signal other autoimmune issues, but having them warrants further testing specifically for celiac disease. At this point, you would want to speak to a gastroenterologist or GI doctor.
3. See a GI doctor about an endoscopy with a biopsy.
Dr. Lee describes an endoscopy as a procedure using a long, thin, flexible scope – thinner than your pinky – with a light and camera on the end that is threaded, by your GI doctor, through your mouth, down your esophagus, into and then past your stomach, and into the first part of your upper small intestine, the duodenum.
Children undergoing an endoscopy typically will be completely asleep under general anesthesia with the help of an anesthesiologist. Adults are more commonly sedated, not fully asleep but not entirely conscious, and will not remember the procedure after the sedation wears off.
The endoscopy involves taking photographs inside the GI tract to look for damage to the lining of the intestines and take small skin scrapings of the lining, called biopsies, using tiny forceps inside a channel in the endoscope. The sample that is taken from your intestines is smaller than the size of the tip of a pen. The entire procedure should take 15 to 20 minutes.
“Usually, patients wake up and they are not in any sort of discomfort,” says Dr. Lee. “They may say ‘My throat feels a little sore,’ and that is because the endoscope has gone down it. Most folks have no GI pain whatsoever.”
How Do You Definitely Know You Have Celiac Disease?
The only sure way to know if you have celiac disease is through an endoscopy and biopsy that shows inflammation or damage to your GI tract. An endoscopy is currently considered the “Gold Standard” of celiac disease testing. However, Dr. Lee points out that things in the medical world are constantly evolving.
For example, pediatric GI doctors in Europe, in particular, are using bloodwork-based diagnosis as a sufficient way to detect celiac disease. The criteria to potentially help guide a bloodwork-based diagnosis is a very high elevation in the tTG-IgA lab, greater than 10 times the upper limit of “normal” for the lab. Then an additional lab, the Anti-Endomysial Antibody (EMA), must be elevated as well. If both of these labs show elevated levels, it validates that there is an abnormality that suggests celiac disease.
In the United States, doctors are not yet formally endorsing the bloodwork-based diagnosis of celiac disease. That said, many doctors are integrating this approach into their clinical practice, but more often with children. The reason they may be less likely to do bloodwork-based diagnosis with adults is because it has not yet been proven to be as accurate.
There is some risk that the tTG-IgA labs could come back with a “false positive” elevation, meaning that what looks like it shows celiac disease could actually be a sign of an infection or inflammatory bowel disease. Some medications can also cause elevated tTG-IgA levels.
Says Dr. Lee, “If I’m going to make a diagnosis that is going to have lifelong, pretty significant implications on an individual, I’d like to have some firmness to the diagnosis. If I’m asking a young child to go gluten-free for the rest of their life, if they don’t have celiac disease, I’ve done them a huge disservice by giving them the wrong diagnosis that has a huge impact on them – and their life.”
Once a celiac disease diagnosis is confirmed, the only treatment currently available is to go on a completely gluten-free diet. Seeing a registered dietitian after diagnosis is an important step to learn how to eliminate gluten from your diet.
Need help finding a dietitian with knowledge of gluten-related issues? Use this search tool from the Academy of Nutrition and Dietetics. You can choose In-person or Telehealth and then choose expertise on the next screen.
Following Up After a Celiac Disease Diagnosis
Dr. Lee likes to see his patients around three months after the initial diagnosis to gauge how things are going with the gluten-free diet and to ensure that the dietitians on his team are supporting both the patient and their family. He’ll also conduct a follow up lab test, looking to see if the antibody levels are going down.
What does it mean if the antibody levels are not going down as anticipated? Dr. Lee cites several reasons why he might not see lower antibody levels. The first reason could be that the patient has not been diligent with their gluten-free diet.
Another possible reason levels may look like they are not going down is that the tTG-IgA test can only accurately measure up to about a certain amount. If your levels are way above that amount, they could be lowering without gluten in your diet, however, it may take a while before those lower numbers can actually be measured.
Another thing to note is that every lab has slightly different “normal” levels for the tTG-IgA test. If a patient is getting tested in a new place, there could be some discrepancies in the numbers. Having a GI doctor involved during the testing phase is pretty important to properly analyze test results and make a celiac disease diagnosis.
Dr. Lee says that it is important to speak with your GI doctor about bloodwork-based diagnosis versus an endoscopy to test for celiac disease. They should listen to your concerns, consider the elevated numbers, and choose the approach that will get you an accurate diagnosis. Overall, if the treatment – a gluten-free diet – is addressing the symptoms you’ve been experiencing, and the labs are showing your elevated tTG-IgA levels are dropping, then you’re on the right track.
Disclaimer: The information on this website is for educational purposes only. Consult your healthcare team when considering this information.
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