Celiac Disease

Diagnosis and Tests | Treatment | For More Information

Celiac disease is an inflammatory disease of the intestines that is caused by exposure to gluten, a protein found in wheat, barley and rye. This disease only occurs in patients who are genetically susceptible. It is considered an autoimmune disease because the immune system inappropriately causes this inflammation when the intestines are exposed to gluten. This makes it hard for the body to absorb vitamins and other nutrients. An estimated 1% of the population has celiac disease. However over 75% of patients who have celiac disease do not know it or are misdiagnosed with other conditions. It can affect men and women of all ages and races. As genetics play a role, 5-22% of people with celiac disease have an immediate family member (first degree relative) with the disease.

Celiac Disease Diagnosis and Tests

There are several blood tests available that screen for antibodies associated with celiac disease. Tissue transglutaminase antibody (TTG-IgA) is the test most commonly used. However, for this test to work, patients must be on a gluten containing diet. If blood test results suggest celiac disease, your physician will recommend a biopsy of your small intestine to confirm the diagnosis. This biopsy is taken of the small intestine, which is then analyzed by an expert pathologist to see if there is any damage consistent with celiac disease.

Genetic Testing

Genetic testing can assist in making the diagnosis of Celiac disease, but it cannot alone make the diagnosis. Approximately 95 percent of individuals with celiac disease have a specific genetic marker (HLA DQ2 and DQ8). However, this marker is in 30% of the US population, so having it does not mean that one has celiac disease. In the medical world we call this great negative predictive value. This means if someone does NOT have the genetic marker, we have confidence in telling them they do not have the disease. However, if someone has the marker it only tells physicians that they have the potential. It cannot make the diagnosis.

Celiac Disease Treatment

Celiac disease is a life-long disease with no cure and there is no medication for the disease. It is managed by lifestyle modifications and the only known treatment is strict adherence to a gluten-free diet. The NorthShore Celiac Disease and Gluten Related Disorders Clinic has a specialized dietician who is an expert in educating patients on this diet. The meeting with this dietician is an integral part of the treatment for this disease entity. By following this special diet, patients can stop and reverse the damage caused to the small intestine. However, if this damage is allowed to persist, complications can occur including:

• Thinning of the bone or osteoporosis
• Iron deficiency anemia
• Lymphoma and adenocarcinoma
• Infertility or difficulty in having a child
• Vitamin deficiency

For More Information

For more information on celiac disease symptoms, tests and diagnosis, or to schedule an appointment with a gastroenterologist, please call 847.657.1900.