National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Celiac disease

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Not a rare disease Not a rare disease
Other Names:
Celiac sprue; Coeliac disease; Gluten intolerance; Celiac sprue; Coeliac disease; Gluten intolerance; Gluten-induced enteropathy; Gluten-sensitive enteropathy; Nontropical sprue See More
Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune system reacts by damaging tiny parts of the lining of the small intestine called villi. Because villi normally allow the blood to absorb nutrients from food, affected individuals become malnourished.[1] Classic signs and symptoms are caused by inflammation of the gastrointestinal tract and may include diarrhea, weight loss, abdominal pain, swelling, and food intolerance. However, many people have other symptoms involving many body systems, and some people have no symptoms.[2][3] While celiac disease tends to run in families, it does not follow a specific inheritance pattern. The risk to develop celiac disease is raised by having certain forms of the HLA-DQA1 and HLA-DQB1 genes.[2] Treatment is a lifelong, gluten-free diet.[3]
Last updated: 2/6/2014
Celiac disease is a systemic autoimmune disease with gastrointestinal symptoms as well as multiple, but variable, non-gastrointestinal symptoms. Signs and symptoms may begin from early childhood to adulthood. In adults, the age at diagnosis is usually between 30 and 50. On average, the time between the first symptoms and diagnosis is about 11 years due to the wide range of non-specific symptoms and lack of symptoms in some people.

Gastrointestinal symptoms of celiac disease may include chronic or recurrent diarrhea; malabsorption; abdominal pain and distention; bloating; vomiting; and weight loss. People with mild to severe gastrointestinal symptoms are usually said to have 'classic celiac disease.'

Non-gastrointestinal symptoms of celiac disease may include dermatitis herpetiformis; chronic fatigue; joint pain/inflammation; iron-deficiency anemia; migraines; depression; attention-deficit disorder; epilepsy; osteoporosis/osteopenia; infertility and/or recurrent miscarriage; vitamin deficiencies; short stature; failure to thrive; delayed puberty; dental enamel defects; and various secondary autoimmune disorders. People without prominent gastrointestinal symptoms are often said to have 'nonclassic celiac disease,' which is more common than classic celiac disease. Iron-deficiency anemia is the most common finding of nonclassic celiac disease, and may be the only finding.

Some affected people have no symptoms (often identified because of an affected family member or screening) and are said to have 'silent celiac disease.'[4]
Last updated: 3/16/2015
Susceptibility to developing celiac disease (CD) can be inherited, but the disease itself is not inherited. Celiac disease is a multifactorial disorder, which means that multiple genes interact with environmental factors to cause CD. The condition is due to the interaction of the genes HLA-DQA1 and HLA-DQB1 (known to be associated with CD susceptibility); non-HLA genes that are less well-understood; gliadin (a component of gluten); and other environmental factors.[4] While multifactorial disorders can run in families, they generally do not follow a specific inheritance pattern.

The risk for a relative of an affected person to develop CD is mostly based on empiric risk data. This means that the risk is assumed based on what has been reported, and the experiences of many families with affected people. However, genetic testing of the genes that cause susceptibility to CD can help people get a more personal risk assessment. For example, when the genetic status of an affected person's child is unknown, the child's overall risk for CD is 5-10% (1/10 to 1/20). However, if the child has testing of the susceptibility genes, the risk will increase or decrease depending on the results.[4]

Individuals interested in learning about specific risks for themselves or family members should speak with their health care provider or a genetics professional.
Last updated: 2/5/2014
Genetic testing is available for celiac disease. However, genetic testing is often not required for a diagnosis of this condition.

You can find information about labs that offer genetic testing for celiac disease through the Genetic Testing Registry (GTR). The intended audience for the GTR is health care providers and researchers. Therefore, people with specific questions about genetic testing for celiac disease should speak with their health care provider or a genetics professional.

Last updated: 2/4/2014
The long-term outlook (prognosis) for people with celiac disease can vary because some people have no symptoms, while others have severe malabsorption features. Overall, people with untreated or unresponsive celiac disease have increased early mortality compared to the general population.[4] Without diagnosis and treatment, celiac disease is ultimately fatal in 10 to 30% of people. Currently this outcome is rare, as most people do well if they avoid gluten.[5]

Following a gluten-free diet heals the damage to the intestines and prevents further damage. This healing most often occurs within 3-6 months in children and may take 2-3 years in adults. In rare cases there can be long-term damage to the lining of the intestines before the diagnosis is made.[6] Strictly adhering to a gluten-free diet also significantly decreases the risk of cancer.[5]
Last updated: 3/16/2015

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Celiac disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Autoimmune Registry supports research for Celiac disease by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Celiac disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What functions are affected by celiac disease? And can a person die from celiac disease? See answer

  • I'm trying to make sense of my genetic test results for celiac disease. I carry both the HLA-DQ2 and HLA-DQ8 genes. I understand what Punnett squares are and all that, but I'm trying to figure out the probability of my daughter inheriting one of these genes. It would be 100% for one of them, correct? Her father hasn't been tested but he displays some celiac-like symptoms so he may carry one or two genes for celiac. I understand that 40% of the population carries celiac genes and that 1 in 100 develop celiac. I'd really like to see this explained by use of a Punnett square. See answer


  1. Celiac disease. NDDIC. January 27, 2012; http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/. Accessed 2/3/2014.
  2. Celiac disease. Genetics Home Reference. October, 2011; http://ghr.nlm.nih.gov/condition/celiac-disease.
  3. Celiac Disease. MedlinePlus. May 6, 2013; http://www.nlm.nih.gov/medlineplus/celiacdisease.html. Accessed 2/4/2014.
  4. Taylor AK, Lebwohl B, & Snyder CL. Celiac Disease. GeneReviews. September 17, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1727/. Accessed 10/29/2015.
  5. Atenodoro R. Ruiz, Jr. Celiac Disease. Merck Manuals. January, 2013; http://www.merckmanuals.com/home/digestive_disorders/malabsorption/celiac_disease.html?qt=celiac%20disease&alt=sh.
  6. Celiac disease - sprue. MedlinePlus. February 21, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm.
  7. Alessio Fasano. Genetics of Celiac Disease. In: Bruce Buehler. Medscape Reference. June 21, 2012; http://emedicine.medscape.com/article/1790189-overview. Accessed 2/4/2014.