Celiac Disease - Diagnosis

How was your celiac disease diagnosed?

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How is celiac disease diagnosed?

Celiac disease is suspected when individuals have signs or symptoms of malabsorption or malnutrition. Other diseases, however, can produce malabsorption and malnutrition, for example, pancreatic insufficiency (when the pancreas is not able to produce digestive enzymes), Crohn's disease of the small intestine, and small intestinal overgrowth of bacteria. It is important, therefore, to confirm suspected celiac disease with appropriate testing.

Small intestinal biopsy

Small intestinal biopsy is considered the most accurate test for celiac disease, and the only way to determine how much damage there is to the small intestine. Small intestinal biopsies can be obtained by performing an esophagogastroduodenoscopy (EGD). During an EGD, the doctor inserts a long, flexible viewing endoscope through the mouth and into the duodenum. A long, flexible biopsy instrument is then passed through a small channel in the endoscope to obtain samples of the intestinal lining of the duodenum. Multiple samples usually are obtained to increase the accuracy of the diagnosis. A pathologist then can examine the biopsies (under a microscope) for the loss of villi and other characteristics of celiac disease such as increased numbers of lymphocytes.

Small intestinal biopsy does however, have some limitations. For example, acute viral gastroenteritis and allergy to cow's milk or soy protein can cause abnormal small intestinal biopsies that are indistinguishable from celiac disease. However, acute viral gastroenteritis is not easily confused with celiac disease because of the difference in the acuteness of symptoms. (Acute viral gastroenteritis has a sudden onset of symptoms and last only a few days.) It is however, easier to confuse cow's milk and soy protein allergies with celiac disease, but these allergic conditions are rare and primarily occur in young children. Despite these limitations, small intestinal biopsies are recommended even in individuals who have abnormal antibody tests for celiac disease. (See discussion that follows.)

Specific antibody tests for celiac disease

Antibodies are proteins that are produced by the immune system to fight viruses, bacteria, and other organisms that infect the body. Sometimes, however, the body produces antibodies against non-infectious substances in the environment (for example, hay fever) and even against its own tissues (autoimmunity).

Blood tests that are specific for celiac disease include antigliadin antibodies, endomysial antibodies, and anti-tissue transglutaminase antibodies. In patients with celiac disease, anti-gliadin antibody is produced against gliadin in the diet, and anti-tissue transglutaminase antibodies are antibodies produced against the complex of gliadin and tissue transglutaminase.

Endomysial antibodies and anti-tissue transglutaminase antibodies are highly reliable in diagnosing celiac disease. An individual with an abnormal elevation of these antibodies has a greater than 95% chance of having celiac disease. Anti-gliadin antibodies are less reliable and have a high false positive rate. Thus a person with an abnormally elevated anti-gliadin antibody level does not necessarily have celiac disease. Nevertheless, anti-gliadin antibody levels are useful in monitoring adherence to the gluten-free diet and the response to treatment because anti-gliadin antibody levels usually begin to fall within several months of successful treatment of celiac disease with a gluten free diet.

The newest test for celiac disease is a test for antibodies to parts of the gliadin molecule called deamidated gliadin peptides. This test appears to be as good for diagnosing celiac disease as antibodies to tissue transglutaminase. In fact, it has been speculated that if blood tests for antibodies to tissue transglutaminase and deamidated gliadin peptides are negative (that is, no antibodies are present) then celiac disease is virtually excluded, and perhaps there is no need for biopsies of the small intestine. Further studies will be needed, however, to prove this.

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See what others are saying

Comment from: Theresa, 45-54 Female (Patient) Published: March 16

My celiac disease was diagnosed by a blood test and a biopsy.

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Comment from: celiac and diabetic, 65-74 Female (Caregiver) Published: September 28

My mom of 74 has been in the hospital three times since May. It started with chronic diarrhea for about two weeks then she was diagnosed with being celiac diabetic and colitic. She is on steroid tablets and insulin once a day. She was never sick in the past and has also lost so much weight, she is now 40 kg. I feel she has changed and is very confused and bothered. I am trying to help her as best as I can but she has told me I am taking over her life. She was a very active woman and very independent but I really do not know what to do for her.

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