Diagnosing Celiac Disease

Screening recommendations and diagnostic tests.

Signs and symptoms of celiac disease vary across individuals and are often similar to those of other conditions, making it a challenge to identify and diagnose. Some individuals may have no symptoms at all, and healthcare providers do not routinely screen for celiac disease in the general population. For these reasons, many cases go undiagnosed. However, because people with type 1 diabetes are at higher risk fo developing celiac disease, regular screening can catch it early.

celiac disease

Common Symptoms

  • Digestive symptoms may include chronic diarrhea, constipation, abdominal bloating or pain, nausea, gas, and vomiting.1
  • Other symptoms may include anemia, joint pain, osteoporosis, headaches, seizures, depression, anxiety, skin rash, canker sores, infertility, miscarriage, and missed menstrual periods.1

Screening Recommendations

Anyone showing signs or symptoms of celiac disease may be screened by his or her healthcare provider. The American College of Gastroenterology (ACG) recommends that the following people be tested for celiac disease, especially if they show signs or symptoms:2
• Individuals with type 1 diabetes.
• Individuals with an immediate family member who has been diagnosed with celiac disease.

The American Diabetes Association also recommends screening for children with type 1 diabetes or a family history of celiac disease. Talk to your doctor about your risk and whether or not screening for celiac disease is important for your health.3

Tools for Diagnosis

Whether or not symptoms are present, healthcare providers may use the following methods to diagnose celiac disease:3

Family and Medical History:
Celiac disease has a genetic component, so it is important for your healthcare provider to know if anyone in your family has been diagnosed. Your medical history is also important, as your risk for celiac disease is increased by the presence of other autoimmune diseases such as type 1 diabetes. Understanding your family and medical history can help you and your physician understand your risk.

Physical Exam:
Your physician will listen to sounds within the abdomen using a stethoscope, check for abdominal bloating and pain by tapping on the abdomen, and visually examine the body for rash or signs of malnutrition.

Blood Tests:
This test involves drawing blood and sending the sample to a lab for analysis to determine if antibodies that are common in celiac disease are present. Your healthcare provider may order additional blood tests depending on the results.

Intestinal Biopsy:
If the results of blood tests suggest celiac disease is present, your healthcare provider may perform a biopsy of the small intestine to confirm the diagnosis. This procedure involves removing tiny pieces of tissue from the small intestine using tools passed through and a small, flexible camera called an endoscope. The endoscope is inserted into the esophagus and through the digestive tract. Local anesthetic is administered and patients may be lightly sedated or may receive general anesthesia for the procedure. The sample is analyzed by a lab to determine whether the villi of the small intestine have been damaged as a result of celiac disease.

Skin Biopsy:
Approximately 5 to 10% of people with celiac disease have a chronic, itchy skin rash called dermatitis herpetiformis. If your healthcare provider suspects dermatitis herpetiformis, he or she will collect a skin sample through a biopsy. If the skin tissue tests positive for antibodies that are common in celiac disease, your healthcare provider will conduct a blood test to confirm the diagnosis of celiac disease.1

Genetic Tests:
If blood work and biopsies do not provide a clear diagnosis of celiac disease, your healthcare provider may order genetic tests to identify the presence of the human leukocyte antigen (HLA) gene variants. Genetic testing alone cannot be used to diagnose celiac disease, but it can be used in combination with other test results.

Updated on: November 4, 2015
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Celiac Disease and Diabetes