Diagnosis of Celiac Disease

How is celiac disease diagnosed?

Initial testing is usually done by blood test. Blood tests can detect higher than normal levels of certain antibodies (anti-tissue transglutaminase antibody; anti-deamidated gliadin antibodies, or anti-endomysial antibodies) in people with celiac disease. Antibodies are special proteins that are part of your immune system and work to help eliminate foreign substances in your body. The immune systems of patients with celiac disease may be recognizing gluten as a foreign substance and be producing elevated levels of antibodies in mistaken attempts to get rid of it. Although these blood tests can be suggestive of celiac disease, the best diagnosis is by examining the small bowel directly.

To confirm the diagnosis, your doctor will usually want to examine a small portion of intestinal tissue to check for damage to the villi (tiny, hair-like projections of the small intestine that work to absorb vitamins, minerals and other nutrients from the food you eat). To do this, your doctor will perform an upper endoscopy by inserting a thin, flexible camera (endoscope) through your mouth, esophagus and stomach into your small intestine and biopsy (collect a small sample) of intestinal tissue to examine under a microscope and check for damage to the villi (villous atrophy, or "blunting") which is the hallmark of celiac disease.

What happens if celiac disease is diagnosed?

Celiac disease has no cure, but it can be effectively managed through changing your diet. This requires adhering to a strict gluten free diet, which involves avoiding all foods that contain gluten.

Click here for access to our STARTER GUIDE TO THE GLUTEN FREE DIET.

If I have celiac disease does this means that my family members may have it too?

If someone in your family has been diagnosed with celiac disease, you may have an increased risk of the disease. Research has shown that certain gene mutations seem to increase the risk of celiac disease, but having those gene mutations does not mean that you are certain to have or develop celiac disease. There are still as yet unknown risk factors that play a role in the development of celiac disease. If a person has a first degree relative (parent, sibling, or child) with celiac disease but has no symptoms, we typically recommend screening blood testing first, with a follow-up endoscopy if the blood tests suggest the presence of celiac disease.