How do doctors diagnose celiac disease?

Image Caption : This image shows the damage that eating the protein gluten can cause in the small intestine of a person with celiac disease. Experts believe that nearly 1 in 100 people may have this autoimmune ailment which is triggered by exposure to the protein gluten in wheat and similar proteins in rye and barley. This man's small intestine enlarged in the background image is lined with finger-like healthy villi (inset) which absorb nutrients from food. But when those with celiac disease eat gluten it is seen as a foreign invader. The resulting autoimmune response damages villi cells (right inset). The villi are worn away and cannot absorb nutrients properly resulting in malnutrition and many other serious effects. Photo credit: wheat image comes from the National Cancer Institute.

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 asirritable 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 famiy 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.

A doctor speaking with a patient.

Your doctor will ask you for information about your family's health.

Physical exam

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

Dental exam

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?

Blood tests

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.

Genetic 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. 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.

Intestinal biopsy

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.

Skin biopsy

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.2However, routine genetic screening for celiac disease is not usually helpful when diagnosing the disease.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Celiac Disease

Also called: Celiac sprue, Gluten-sensitive enteropathy, Nontropical sprue

Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and supplements, lip balm, and even the glue on stamps and envelopes.

Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms.

Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

The material on this site is for informational purposes only and is not intended as medical advice. It should not be used to diagnose or treat any medical condition. Consult a licensed medical professional for the diagnosis and treatment of all medical conditions and before starting a new diet or exercise program. If you have a medical emergency, call 911 immediately.