Diagnosis of Celiac Disease
How do doctors diagnose celiac disease?
Celiac disease can be hard to diagnose because some of the symptoms are like symptoms of other diseases, such as irritable bowel syndrome (IBS) and lactose intolerance. Your doctor may diagnose celiac disease with a medical and family history, physical exam, and tests. Tests may include blood tests, genetic tests, and biopsy.
Medical and family history
Your doctor will ask you for information about your family’s health—specifically, if anyone in your family has a history of celiac disease.
During a physical exam, a doctor most often
- checks your body for a rash or malnutrition, a condition that arises when you don’t get enough vitamins, minerals, and other nutrients you need to be healthy
- listens to sounds in your abdomen using a stethoscope
- taps on your abdomen to check for pain and fullness or swelling
For some people, a dental visit can be the first step toward discovering celiac disease. Dental enamel defects, such as white, yellow, or brown spots on the teeth, are a pretty common problem in people with celiac disease, especially children. These defects can help dentists and other health care professionals identify celiac disease.
What tests do doctors use to diagnose celiac disease?
A health care professional may take a blood sample from you and send the sample to a lab to test for antibodies common in celiac disease. If blood test results are negative and your doctor still suspects celiac disease, he or she may order more blood tests.
If a biopsy and other blood tests do not clearly confirm celiac disease, your doctor may order genetic blood tests to check for certain gene changes, or variants.4 You are very unlikely to have celiac disease if these gene variants are not present. Having these variants alone is not enough to diagnose celiac disease because they also are common in people without the disease. In fact, most people with these genes will never get celiac disease.
If blood tests suggest you have celiac disease, your doctor will perform a biopsy to be sure. During a biopsy, the doctor takes a small piece of tissue from your small intestine during a procedure called an upper GI endoscopy.
If a doctor suspects you have dermatitis herpetiformis, he or she will perform a skin biopsy. For a skin biopsy, the doctor removes tiny pieces of skin tissue to examine with a microscope.
A doctor examines the skin tissue and checks the tissue for antibodies common in celiac disease. If the skin tissue has the antibodies, a doctor will perform blood tests to confirm celiac disease. If the skin biopsy and blood tests both suggest celiac disease, you may not need an intestinal biopsy.
Do doctors screen for celiac disease?
Screening is testing for diseases when you have no symptoms. Doctors in the United States do not routinely screen people for celiac disease. However, blood relatives of people with celiac disease and those with type 1 diabetes should talk with their doctor about their chances of getting the disease.
Many researchers recommend routine screening of all family members, such as parents and siblings, for celiac disease.5 However, routine genetic screening for celiac disease is not usually helpful when diagnosing the disease.
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