Also Known As
Celiac Sprue
Gluten-Sensitive Enteropathy
GSE
Non-tropical Sprue
Gluten Intolerance
This article was last reviewed on
This article waslast modified on May 8, 2020.
What is celiac disease?

Celiac disease is an autoimmune disease of the digestive system in which the body's natural defense (immune) system reacts to gluten, a protein found in wheat, and to related dietary proteins in rye and barley. As part of this reaction, immune cells cause inflammation and damage to the lining of the small intestine and to the small tissue folds called villi that line the intestinal wall. Most patients with celiac disease produce immune proteins called autoantibodies as well.

When villi are damaged or destroyed, the body is much less capable of absorbing nutrients, vitamins, minerals and fluids. Without treatment, people with celiac may develop malnutrition and malabsorption.

Celiac disease is thought to be triggered by an environmental, emotional, or physical event and influenced by genetics, although the exact mechanism is not fully understood. A close relative (parent, sibling, or child) of a person who has been diagnosed with celiac disease has a 4% to 15% chance of developing the disease. Others at increased risk for celiac disease include people with Down syndrome, Turner syndrome, and type 1 diabetes.

Celiac disease affects people throughout the world but is most commonly diagnosed in those of European descent. It occurs in about 1 out of every 3000 people in the U.S. and is somewhat more common in women than in men. People can develop celiac disease at any age after they begin to eat foods containing gluten.

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About Celiac Disease
  • Signs and Symptoms

    About 3 million people in the United States are thought to have celiac disease, but only about 10% of them have been diagnosed. In part, this is because signs and symptoms of celiac disease are like those that occur with many other disorders. Since the same symptoms may be present in a variety of other conditions, including food allergies, a diagnosis of celiac disease may be missed or delayed, sometimes for years.

    Celiac disease affects people differently, depending on their age. According to the National Institute of Diabetes and Digestive and Kidney Diseases, infants and young children are more likely to have signs and symptoms affecting their digestive system, while adults are more likely to have signs and symptoms affecting other parts of the body.

    Examples of some common signs and symptoms of celiac disease include:

    • Abdominal pain and bloating
    • Persistent diarrhea or constipation
    • Greasy, foul-smelling stools
    • Vomiting
    • Unintended weight loss
    • Iron deficiency anemia that does not respond to iron supplements
    • Easy bruising or bleeding
    • Bone and joint pain
    • Fatigue, weakness
    • Difficulty concentrating
    • Mouth ulcers
    • Defects in dental enamel
    • Osteoporosis
    • Infertility

    Children with celiac disease may have other signs and symptoms, such as:

    • Failure to thrive
    • Delayed growth and development
    • Delayed onset of puberty
    • Short stature

    About 10-15% of people with celiac disease have dermatitis herpetiformis, a disease that causes itchy blisters on the skin. There is also an increased risk for developing intestinal lymphoma, a form of cancer.

  • Testing and Diagnosis

    The diagnosis of celiac disease can be challenging, especially because signs and symptoms can vary widely and change over time. The diagnosis is usually made by evaluating your signs and symptoms in combination with tests that can help to confirm the diagnosis or rule out other conditions.

    Autoantibody tests
    An initial evaluation for celiac disease typically includes testing for specific autoantibodies. Although these tests are primarily used for diagnosing people with symptoms, they also may be used to screen close family members of a person who has been diagnosed with the disease.

    If you are scheduled to have autoantibody testing done, you should continue to eat foods that contain gluten prior to testing.

    Two different classes of autoantibodies are involved in celiac disease, IgA and IgG.

    • Immunoglobulin A (IgA) is the primary antibody present in fluids in your digestive system. Tests for IgA autoantibodies are more specific for celiac disease. However, about 2-3% of people with celiac disease have an IgA deficiency, which can lead to false-negative autoantibody test results.
    • Immunoglobulin G (IgG) autoantibody tests are usually ordered only if you have an IgA deficiency, since they are less specific than IgA tests.

    Two different types of tests are commonly used to help diagnose celiac disease:

    1. Quantitative (total) IgA—this test measures the IgA level in your blood and may be done first or along with autoantibody testing. It will help determine whether you have an IgA deficiency and whether you should have IgA or IgG autoantibody tests done.
    2. Autoantibody tests for celiac disease commonly include:
      • Anti-tissue transglutaminase (anti-tTG) antibodies, IgA—this is the preferred test because it is the most sensitive and specific blood test for celiac disease. If you have IgA deficiency, then anti-tTG IgG will be done instead.
      • Deamidated gliadin peptide (DGP) antibodies, IgA—this test may be positive in some people with celiac disease who test negative for anti-tTG, especially young children. If you have IgA deficiency, then DGP IgG testing (along with anti- tTG IgG) is recommended by the American College of Gastroenterology.

    Less common autoantibody tests for celiac disease include:

    • Anti-endomysial antibodies (EMA), IgA—may provide additional information if the primary test results are not clear
    • Anti-reticulin antibodies (ARA), IgA—not as specific or sensitive as other tests and rarely ordered

    (For more detail on the above tests, see the article on Celiac Disease Antibody Tests.)

    Biopsy
    A biopsy of the small intestine is needed to confirm a diagnosis of celiac disease. Typically, a healthcare practitioner obtains biopsy samples during an endoscopy procedure while you are lightly anesthetized. This involves threading a thin tube with a camera on the end into your mouth and through your throat to your small intestine. Tools are then inserted into the tube to remove tissue samples that are then sent to the lab for examination. A pathologist uses a microscope to look for damage to the intestinal villi.

    Genetic tests for alleles that are strongly linked to celiac disease are available but not routinely ordered. The most common tests detect human leukocyte antigen (HLA) DQ2 and DQ8 alleles. Genetic tests are most useful if you have a family member with celiac disease or if your results from autoantibody tests and biopsy are unclear.

    • A positive result does not diagnose celiac disease since about 30% of the general population have these alleles but do not have the disease.
    • A negative result, however, can essentially rule out celiac disease in people for whom results of other tests, including biopsy, are unclear.

    Other laboratory tests may be ordered to evaluate the severity of the disease and the health of your organs as well as to determine whether you have been absorbing the nutrients that you need (detecting malnutrition or malabsorption). Examples of these tests include:

    Sometimes, tests may be done to rule out other conditions because signs and symptoms of celiac disease can be vague and appear similar to other conditions. Some examples of these tests include:

    Non-laboratory tests
    Endoscopy—as mentioned above, a healthcare practitioner may perform an endoscopy to examine your small intestine and take a small tissue sample (biopsy) to look for damage to the villi. This involves threading a thin tube with a camera on the end into your mouth and down your throat to your small intestine.

  • Treatment

    If you are diagnosed with celiac disease you will need to follow a lifelong gluten-free diet. This usually requires consultation with a dietitian and a careful review of food ingredients to be successful. Once all forms of wheat, rye, and barley have been removed from your diet, autoantibody levels will begin to fall and the intestine will heal. (See the Related Content section for links to resources with more information on a gluten-free diet.)

    While most, if not all, of the intestinal damage caused by celiac disease is reversible, some effects of prolonged malnutrition and malabsorption – such as short stature and weakened bones – may be permanent. It is important to detect and treat celiac disease as soon as possible, especially in young children. Celiac disease should be considered in infants who are not thriving, since foods with gluten are common and celiac disease may begin to develop shortly after a child begins eating solid foods.

    In most cases, following a strict gluten-free diet will help you remain healthy and symptom-free and you can live a relatively healthy life. However, if you begin to consume gluten-containing foods again, within a short period of time both the symptoms of celiac disease and the damage to intestinal villi will return. Even if you have few or no symptoms, you can have intestinal damage and, over time, may develop complications, such as nutritional deficiencies and decreased bone mineral density.

    A small percentage of people with celiac disease do not respond to a gluten-free diet and/or may have irreversible damage to the intestine. These people may require additional medical interventions and nutritional support.

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