Celiac Disease

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Diagnosis

People who experience symptoms of celiac disease should speak with a qualified health care provider. In some cases, patients who have celiac disease are misdiagnosed with Crohn's disease, irritable bowel syndrome, or spastic colon.

If celiac disease is suspected, physicians often refer patients to a gastroenterologist, which is a doctor who specializes in treating disorders of the digestive system. Children may be referred to a pediatric gastroenterologist.

Diagnosis of celiac disease usually begins with a history of symptoms. It may be helpful for patients to keep track of symptoms by writing them down. Important information includes what the symptoms are, when they occur, and how long they last.

During a physical examination, the physician may look for signs of malnutrition (e.g., extreme thinness, paleness, diminished reflexes, excessive bruising, unexplained swelling, stomach distension [potbelly]); skin rash on the elbows, knees, and buttocks; and low blood pressure.

If the physician suspects celiac disease, it is important not to restrict gluten from the diet during the diagnostic process. Even a short period of gluten-free eating can allow enough healing to give (falsely) negative test results—especially in children.

In most cases, the first test used to diagnose celiac disease is a blood test called a celiac panel. People who have celiac disease usually have certain antibodies in their blood that attack healthy tissue. These substances are also referred to as auto-antibodies, and include anti-gliadin (AGG and AGA), anti-tissue transglutaminase (tTGA), and anti-endomysium (EMA).

If the blood test detects these auto-antibodies, a biopsy of tissue from the small intestine often is performed. This test, which is called an endoscopic biopsy, involves inserting a flexible tube through the mouth, esophagus, and stomach and into the small intestine. A special device is then inserted into the tube and used to surgically remove tiny samples of tissue for analysis. This procedure is performed in a hospital or outpatient surgery unit under sedation or anesthesia.

The number of tissue samples removed during biopsy varies. It is important to get a large enough sample to determine if there is damage to the villi of the small intestine and to assess the extent of the damage.

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