Diagnosis of Celiac Disease

How do doctors diagnose celiac disease?

Doctors use information from your medical and family history, a physical exam, a dental exam, and medical test results to look for signs that you might have celiac disease and should be tested. Doctors typically diagnose celiac disease with blood tests and biopsies of the small intestine.

Medical and family history

Your doctor will ask about your symptoms. Celiac disease isn’t diagnosed based on symptoms alone because some of the symptoms are like the symptoms of other digestive disorders, such as irritable bowel syndrome (IBS) or lactose intolerance. Some people with celiac disease have symptoms that affect parts of the body outside the digestive tract.

The doctor will review your medical history, including your history of conditions that are more common in people who have celiac disease. Your doctor will also ask about your family’s medical history and whether anyone in your family has been diagnosed with celiac disease.

Your doctor will ask about your symptoms, medical history, and family medical history.

Physical exam

During a physical exam, a doctor may

• check for signs of weight loss or growth problems
• examine your skin for rashes, such as dermatitis herpetiformis
• listen to sounds in the abdomen using a stethoscope
• tap on the abdomen to check for pain or swelling

In some cases, a dentist may notice signs of celiac disease during an exam. Celiac disease may cause problems with the teeth and mouth, such as defects in tooth enamel or canker sores.

What tests do doctors use to diagnose celiac disease?

Doctors most often use blood tests and biopsies of the small intestine to diagnose or rule out celiac disease. Doctors don’t recommend starting a gluten-free diet before diagnostic testing because a gluten-free diet can affect test results.

In some cases, doctors may order additional tests, such as skin biopsies and genetic tests, to help diagnose or rule out celiac disease.

Blood tests

A health care professional will take a blood sample from you and send the sample to a lab. Blood tests can show levels of certain antibodies that are often higher than normal in people who have untreated celiac disease. Blood tests may also show signs of health problems that could be related to celiac disease, such as anemia.

Biopsies of the small intestine

A doctor obtains biopsies of the small intestine during an upper GI endoscopy. For an upper GI endoscopy, a doctor uses an endoscope—a flexible tube with a camera—to see the lining of your upper GI tract, including the first part of your small intestine. The doctor passes an instrument through the endoscope to take small pieces of tissue from your small intestine. A pathologist will examine the tissue under a microscope to look for signs of celiac disease.

Skin biopsies

A doctor may order skin biopsies if you have a rash that could be dermatitis herpetiformis. For skin biopsies, a doctor removes small pieces of skin tissue on and next to the rash. A pathologist will examine the tissue under a microscope to look for signs of dermatitis herpetiformis.

Genetic testing

In some cases, a health care professional may take a blood sample or use a swab to collect cells from the inside of your cheek. The sample will be tested for groups of gene variants called DQ2 and DQ8. If you do not have these gene variants, you are very unlikely to have celiac disease.

Having DQ2 or DQ8 alone does not mean you have celiac disease. Most people with these gene variants do not develop celiac disease. If you do have DQ2 or DQ8, your doctor may recommend additional tests to check for or rule out celiac disease.

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 to see if they should be tested.