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Genetics Home Reference: your guide to understanding genetic conditions
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Celiac disease

Reviewed October 2011

What is celiac disease?

Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body.

Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus.

Inflammation as well as poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form.

Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until more than a decade after symptoms begin.

Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy.

In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.

How common is celiac disease?

Celiac disease is a common disorder. Its prevalence has been estimated at about 1 in 100 people worldwide.

What genes are related to celiac disease?

The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

The proteins produced from the HLA-DQA1 and HLA-DQB1 genes attach (bind) to each other to form a functional protein complex called an antigen-binding DQαβ heterodimer. This complex, which is present on the surface of certain immune system cells, attaches to protein fragments (peptides) outside the cell. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.

Celiac disease is associated with an inappropriate immune response to a segment of the gluten protein called gliadin. This inappropriate activation of the immune system causes inflammation that damages the body's organs and tissues and leads to the signs and symptoms of celiac disease.

Almost all people with celiac disease have specific variants of the HLA-DQA1 and HLA-DQB1 genes, which seem to increase the risk of an inappropriate immune response to gliadin. However, these variants are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease.

It appears likely that other contributors, such as environmental factors and changes in other genes, also influence the development of this complex disorder.

Related Gene(s)

Changes in these genes are associated with celiac disease.

  • HLA-DQA1
  • HLA-DQB1

How do people inherit celiac disease?

Celiac disease tends to cluster in families, but the inheritance pattern is unknown.

Where can I find information about diagnosis or management of celiac disease?

These resources address the diagnosis or management of celiac disease and may include treatment providers.

  • Beth Israel Deaconess: Celiac Center (http://bidmc.org/CentersandDepartments/Departments/DigestiveDiseaseCenter/CeliacCenter.aspx)
  • Columbia University Celiac Disease Center (http://www.celiacdiseasecenter.columbia.edu/)
  • Gene Review: Celiac Disease (http://www.ncbi.nlm.nih.gov/books/NBK1727)
  • Genetic Testing Registry: Celiac disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0007570)
  • Massachusetts General Hospital Center for Celiac Research and Treatment (http://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1723)
  • MedlinePlus Encyclopedia: Celiac Disease Nutritional Considerations (http://www.nlm.nih.gov/medlineplus/ency/article/002443.htm)
  • North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide (http://www.gikids.org/files/documents/resources/Gluten-FreeDietGuideWeb.pdf)
  • University of Chicago Celiac Disease Center (http://www.cureceliacdisease.org/?utm_source=celiacdisease&utm_medium=redirect&utm_campaign=CeliacdiseaseBRedirect)
  • University of Maryland Center for Celiac Research (http://medschool.umaryland.edu/celiac/)

You might also find information on the diagnosis or management of celiac disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/celiac-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/celiac-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about celiac disease?

You may find the following resources about celiac disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for celiac disease?

  • celiac sprue
  • gluten enteropathy
  • sprue

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about celiac disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding celiac disease?

ADHD ; anemia ; attention deficit hyperactivity disorder ; autoimmune ; bacteria ; biopsy ; bone mineral density ; cancer ; cell ; chronic ; deficiency ; depression ; diagnosis ; distention ; enamel ; epilepsy ; esophagus ; gastrointestinal ; gene ; gluten ; HLA ; hyperactivity ; immune response ; immune system ; infertility ; inflammation ; inheritance ; inheritance pattern ; intestine ; iron ; joint ; leukocyte ; lymphoma ; migraine ; mineral ; neurological ; osteoporosis ; population ; prevalence ; protein ; puberty

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Abadie V, Sollid LM, Barreiro LB, Jabri B. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu Rev Immunol. 2011;29:493-525. doi: 10.1146/annurev-immunol-040210-092915. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21219178?dopt=Abstract)
  • Crowe SE. In the clinic. Celiac disease. Ann Intern Med. 2011 May 3;154(9):ITC5-1-ITC5-15; quiz ITC5-16. doi: 10.7326/0003-4819-154-9-201105030-01005. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21536935?dopt=Abstract)
  • Freeman HJ. Risk factors in familial forms of celiac disease. World J Gastroenterol. 2010 Apr 21;16(15):1828-31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20397258?dopt=Abstract)
  • Gene Review: Celiac Disease (http://www.ncbi.nlm.nih.gov/books/NBK1727)
  • Karandish E, Hachem C. Celiac disease. Mo Med. 2009 Sep-Oct;106(5):346-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19902715?dopt=Abstract)
  • Rubio-Tapia A, Murray JA. Celiac disease. Curr Opin Gastroenterol. 2010 Mar;26(2):116-22. doi: 10.1097/MOG.0b013e3283365263. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20040864?dopt=Abstract)
  • Tack GJ, Verbeek WH, Schreurs MW, Mulder CJ. The spectrum of celiac disease: epidemiology, clinical aspects and treatment. Nat Rev Gastroenterol Hepatol. 2010 Apr;7(4):204-13. doi: 10.1038/nrgastro.2010.23. Epub 2010 Mar 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20212505?dopt=Abstract)
  • Tjon JM, van Bergen J, Koning F. Celiac disease: how complicated can it get? Immunogenetics. 2010 Oct;62(10):641-51. doi: 10.1007/s00251-010-0465-9. Epub 2010 Jul 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20661732?dopt=Abstract)
  • Uibo R, Tian Z, Gershwin ME. Celiac disease: a model disease for gene-environment interaction. Cell Mol Immunol. 2011 Mar;8(2):93-5. doi: 10.1038/cmi.2010.62. Epub 2011 Feb 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21317918?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2011
Published: December 16, 2014