Celiac Disease Diagnosis

Recognizing celiac disease can be difficult because some of its symptoms are similar to those of other diseases. In fact, some doctors feel that celiac disease has long been under-diagnosed or misdiagnosed.  Celiac disease can be confused with irritable bowel syndrome (IBS), iron-deficiency anemia, inflammatory bowel diseases (IBD, Crohn's disease and ulcerative colitis), diverticulitis, intestinal infections, and/or chronic fatigue syndrome.

Most likely you will see your family doctor or general practitioner for an initial celiac consultation, and then be referred to a gastroenterologist for further testing and treatment.  At the moment, no medical specialty exists for the diagnosis and treatment of celiac disease.  Instead, you can work with a team of doctors including gastroenterologists, internists, pediatricians or family doctors with a good understanding of celiac disease in order to diagnose and treat this digestive disorder. 

Screening
Screening for celiac disease includes testing for the presence of anti-gluten antibodies and various autoantibodies in the blood. Because celiac disease is hereditary, family members of a person with the disease should be tested to exclude or confirm a diagnosis.

Physical Examination
Doctors check for some of the following during a physical exam, when celiac disease is suspected:

• bone or skin and mucosa membrane changes
• bone pain
• bone tenderness
• easy bruising
• edema
• emaciation (excessive leanness caused by disease or lack of nutrition)
• hypotension (low blood pressure)
• loss of various sensations in extremities including vibration, position, light touch
• protruding or distended abdomen
• signs of severe vitamin or mineral deficiencies
• skin lesions

Blood tests - Blood tests are used to identify elevated antibody and autoantibody levels. Elevated levels of antibodies are a sign of celiac disease when the immune system recognizes gluten as a foreign substance and increases the number of antibodies to fight it.

Intestinal tissue checks - Intestinal samples are taken after positive antibody blood tests to confirm if a patient has celiac disease.  Usually, a thin, flexible tube is inserted through the mouth, esophagus and stomach and into the small intestine to take a small tissue sample. Doctors look for damage to the villi.

Other Tests

Anti-endomysial antibody test (EMA-IgA) --EMA-IgA tests are very specific to diagnosing celiac disease.

Total Serum IgA - This blood test identifies IgA deficiency, another disorder which can affect the accuracy of an antibody test

Capsule endoscopy - Researchers are studying new options for diagnosing celiac disease, including capsule endoscopy. During this procedure, you swallow a capsule containing a tiny video camera that records images of the small intestine.

Gene testing - The HLA-DQ2 and HLA-DQ8 "gene tests" are used to exclude celiac disease in doubtful cases.

The diagnosis of celiac disease is considered definitive when there is complete symptom resolution after treatment with a strict gluten-free diet in a previously symptomatic individual with characteristic microscopic/histological changes on small intestinal biopsy. A positive serological test that reverts to negative after treatment with a strict diet provides further supportive evidence for the diagnosis. As doctors become more aware of the many varied symptoms of the disease and reliable blood tests become more available, diagnosis of celiac disease is on the increase. To learn more about how celiac disease is treated, including information about diet for celiac disease, read our Treating Celiac Disease section now.