Also Known As
Celiac Sprue
Gluten-Sensitive Enteropathy
GSE
This article was last reviewed on
This article waslast modified on October 10, 2017.
What is celiac disease?

Celiac disease is an autoimmune disease characterized by an inappropriate immune response to gluten, a protein found in wheat, and to related dietary proteins in rye and barley. This response leads to inflammation of the small intestine and to damage and destruction of the villi that line the intestinal wall.

The villi are projections, small tissue folds that increase the surface area of the intestine and allow nutrients, vitamins, minerals, fluids, and electrolytes to be absorbed into the body. When a susceptible person is exposed to gluten, the person's body produces an immune response. Immune cells cause damage to intestinal villi and immune proteins called autoantibodies may be produced as well.

As long as the person continues to be exposed to the proteins, that person will continue to produce an immune response and autoantibodies. When villi are damaged or destroyed, the body is much less capable of absorbing food and the affected person begins to develop symptoms associated with malnutrition and malabsorption.

Found throughout the world, celiac disease is most prevalent in those of European descent. It occurs in about 1 out of every 100 to 150 individuals in the U.S. and is somewhat more common in women than in men. It can affect anyone at any age but occurs more frequently in infants and in those in their 30s and 40s. Celiac disease was once common only in infants and was very serious. Demographics of the disease have changed over time and it is now seen more often in adults.

The development of celiac disease is due to an inherited disorder that is thought to be triggered by an environmental, emotional, or physical event, although the exact mechanism is not fully understood. According to the National Digestive Diseases Information Clearinghouse, about 4-12% of first-degree relatives (parent, sibling, or child) of a person with celiac disease will also have the condition.

Accordion Title
About celiac disease
  • Signs and Symptoms

    It has been estimated that as many as 2 to 3 million people in the United States and 20 million people in the world have celiac disease, but only about 10% of those in the U.S. with celiac disease have been diagnosed. In part, this is because symptoms may vary widely from person to person.

    The manifestations of celiac disease tend to vary with a person's age and stage of development. According to the National Digestive Diseases Information Clearinghouse, infants and young children are more likely to have digestive signs and symptoms while adults are more likely to have symptoms affecting other parts of the body. 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.

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

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


    Children with celiac disease may experience failure to thrive, delayed growth and development, delayed onset of puberty, and short stature. Adults with celiac disease may also experience infertility.

    Many 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.

  • Tests

    Usually, initial celiac disease testing involves the detection of specific autoantibodies, followed by a biopsy to confirm a diagnosis of celiac disease. Autoantibody testing is performed to diagnose and monitor celiac disease, primarily in symptomatic people, but also may be used to screen close family members of a person who has been diagnosed with the disease.

    Tests that detect two different classes of the autoantibodies, IgA and IgG, are available, but the IgA tests are more specific and are used almost exclusively. IgA is the primary antibody present in gastrointestinal secretions. However, about 2-3% of people with celiac disease have an IgA deficiency, which can lead to false-negative test results. In these cases, IgG autoantibody tests may be ordered.

    Common celiac disease antibody testing includes:

    • Anti-tissue Transglutaminase (anti-tTG) antibodies, IgA: this is the most sensitive and specific blood test for celiac disease and is typically the initial test performed. The test for the IgG class of anti-tTG is less sensitive and specific than the IgA class but may be ordered when a person has an IgA deficiency.
    • Quantitative Immunoglobulin A (IgA): this test is sometimes ordered in conjunction with an anti-tTG test to detect IgA deficiency.
    • Deamidated Gliadin Peptide (DGP) antibodies, IgA: this test may be positive in some people with celiac disease who are negative for anti-tTG, especially young children; DGP IgG testing along with anti- tTG IgG is recommended by the American College of Gastroenterology for those who have low IgA or IgA deficiency.


    Less common autoantibody tests include:

    • Anti-Endomysial Antibodies (EMA), IgA: may provide additional information if the primary test results are not clear, but it is more difficult to perform than anti-tTG
    • 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.)

    To confirm a diagnosis of celiac disease, a biopsy of the small intestine is examined to detect damage to the intestinal villi. (For general information on biopsies, read the article on Histopathology.)

    Genetic tests that look for the markers that are strongly associated with celiac disease are available but not routinely ordered. These tests include the Human Leukocyte Antigen (HLA) markers DQ2 and DQ8. They are most useful for family members of individuals with the disease who fall into a high risk category and for those with other diagnostic test results that are inconclusive.

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


    Other tests may be ordered to evaluate the severity of the disease and the extent of a person's malnutrition, malabsorption, and organ involvement. These may include:


    Sometimes tests may be done to rule out other conditions. These tests may include:


    Non-laboratory testing
    X-rays of the intestines after barium ingestion may show characteristic findings that indicate intestinal damage.

  • Treatment

    People with celiac disease must 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 the diet, autoantibody levels will begin to fall and the intestine will heal. (See the Related Pages 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 autoantibodies may begin to develop shortly after a child switches from milk to solid foods.

    In most cases, those on a strict gluten-free diet will remain healthy and symptom-free and can live a relatively normal life. However, if a person begins 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 people with few or no symptoms can have intestinal damage and, over time, may develop complications, such as nutritional deficiencies and decreased bone mineral density.

    A small percentage of those affected by 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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