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Celiac Disease

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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Synonyms of Celiac Disease

Disorder Subdivisions

General Discussion

Celiac disease is a digestive disorder characterized by intolerance to dietary gluten, which is a protein found in wheat, rye, and barley. Consumption of gluten leads to abnormal changes of the mucous membrane (mucosa) of the small intestine, impairing its ability to properly absorb fats and additional nutrients during digestion (intestinal malabsorption). Symptom onset may occur during childhood or adulthood. In affected children, such symptoms may include diarrhea, vomiting, weight loss or lack of weight gain, painful abdominal bloating, irritability, and/or other abnormalities. Affected adults may have diarrhea or constipation; abdominal cramping and bloating; abnormally bulky, pale, frothy stools that contain increased levels of fat (steatorrhea); weight loss; anemia; muscle cramping; bone pain; exhaustion (lassitude); and/or other symptoms and findings. Although the exact cause of celiac disease is unknown, genetic, immunologic, and environmental factors are thought to play some role.


In individuals with celiac disease, the mucous membrane (mucosa) of the small intestine is damaged by gluten, a dietary protein in barley, wheat, and rye. Consumption of gluten is thought to result in abnormal degeneration, shortening, and flattening of the minute projections (villi) lining the small intestine, causing impaired absorption of fats and additional nutrients from the small intestine during digestion (intestinal malabsorption).

Associated symptoms and findings may vary greatly in range and severity from case to case. In addition, some individuals with characteristic changes of the lining of the small intestine may not develop any apparent symptoms (asymptomatic).

In those who do experience symptoms, such abnormalities may initially become apparent during childhood or adulthood. During childhood, symptoms do not occur until gluten is introduced into the diet, usually becoming evident at approximately six months to two years of age. The initial symptom is often diarrhea. However, in some cases, the only symptom may be vomiting or a failure to grow and gain weight at the expected rate (failure to thrive). Additional symptoms and findings may include lack of appetite (anorexia); abnormally bulky, pale, frothy stools that contain increased levels of fat (steatorrhea); and abdominal bloating and pain. Some affected children may also develop unusual "clinginess" and irritability; muscle wasting; reduced levels of the oxygen-carrying component of red blood cells (hemoglobin) due to poor absorption of iron (iron deficiency anemia); paleness of the skin (pallor); broadening of the tips of the fingers and toes (digital clubbing); and/or other abnormalities.

When symptom onset occurs during adulthood, associated features often include diarrhea; unusually bulky, frothy, pale stools with increased levels of fat (steatorrhea); abdominal cramping and bloating; exhaustion (lassitude); and/or weight loss. However, in some cases, initial abnormalities may include anemia; abnormal bleeding due to deficiency of a protein (prothrombin) important in blood clotting (hypoprothrombinemia); muscle cramping; bone pain and reduced bone mass (osteopenia) that may lead to an increased susceptibility to fractures; emotional disturbances; and/or other abnormalities. Some affected individuals may also develop neurologic abnormalities, such as impaired muscular coordination (ataxia), sudden episodes of uncontrolled electrical activity of the brain (seizures), or other symptoms and findings.

In addition, some individuals, particularly those who are otherwise asymptomatic, may develop a skin condition known as dermatitis herpetiformis, which is characterized by the eruption of intensely itchy (pruritic), reddish elevations (papules) and blisters (bullae) on the skin. With healing of such lesions, affected areas may become abnormally dark or light in pigmentation and may develop scarring. The condition, which is often chronic, most commonly develops during the second to fourth decade of life; however, it may occur at any age, including during childhood.

Many researchers suggest that individuals with celiac disease may also have an increased risk of developing primary biliary cirrhosis (PBC), a chronic inflammatory liver disease. For example, two large national studies identified 24 cases of PBC among approximately 8,600 Swedish and Danish individuals with celiac disease. According to researchers, such findings demonstrated an approximate 25 to 28 percent greater than expected rate of PBC among individuals with celiac disease, strongly supporting a possible association between the two diseases. Due to such findings, diagnostic screening for PBC may be suggested for some individuals with celiac disease and for celiac disease in some individuals with PBC.

PBC is characterized by destruction of small ducts through which bile passes from the liver. Bile is a liquid that transports waste products from the liver and plays a role in breaking down fats within the small intestine. Symptoms and findings associated with PBC may include accumulation of bile within the liver (cholestasis); intense, generalized itching (pruritus); high levels of cholesterol in the blood (hypercholesterolemia); and softening of bone (osteomalacia), causing an increased susceptibility to bone fractures. Additional findings may include the development of benign, fatty nodules under the skin (xanthomas); yellowish discoloration of the skin, mucous membranes, and whites of the eyes (jaundice); and progressive liver failure. PBC most commonly affects females of middle age. (For more information on this disorder, choose "primary biliary cirrhosis" as your search term in the Rare Disease Database.)


The exact cause of celiac disease is unknown. However, certain genetic, immunologic, and environmental factors are thought to play some role. Some investigators indicate that the disorder may result from an abnormal immune response to dietary gluten; a deficiency of certain digestive enzymes (e.g., a mucosal peptidase); and/or other factors in those with a genetic predisposition, ultimately resulting in degeneration (atrophy) and flattening of the tiny brushlike projections (villi) that line the small intestine.

Celiac disease has been reported in a significant percentage of immediate (first-degree) relatives of those diagnosed with the disease, supporting the possibility of genetic predisposition as a factor in some cases. In addition, researchers have demonstrated that individuals with celiac disease have an increased frequency of certain genetically determined "human leukocyte antigens" (HLAs). HLAs are proteins that play an important role in the body's immune system; they influence the outcome of transplantation and appear to affect an individual's predisposition to certain diseases. Individuals with celiac disease are more likely to have certain HLAs than the general population, particularly the HLAs known as HLA-DR3 and HLA-DQw2. However, the specific role of such antigens in potentially predisposing individuals to the disorder is unknown. Due to various factors, including cases in which only one of HLA-identical siblings (including twins) develops celiac disease, researchers suggest that another susceptibility gene or genes or certain environmental factors may be required for development of the disease. For example, according to researchers, the onset of symptoms has appeared to be precipitated by pregnancy, antibiotic therapy, another diarrheal illness, or other factors in some cases.

Affected Populations

The frequency of celiac disease appears to vary greatly in different countries and among different populations. However, because some individuals are asymptomatic and may remain undiagnosed, it is difficult to estimate the true frequency of the disorder in the general population. According to reports in the medical literature, the disorder appears to occur more commonly in females than males.

Researchers estimate the prevalence of celiac disease in the general population of the United States at 1 in 250. However, some researchers suspect the disease may be much more common. In one study of high-risk individuals, the incidence rate was 1 in 57. More research is needed to determine the true frequency of this disorder in the general population.

In 2004, an independent consensus panel convened by the National Institutes of Health (NIH) announced that celiac disease may be underdiagnosed and possibly affects as many as three million Americans.

Related Disorders

Symptoms of the following disorders may be similar to those of celiac disease. Comparisons may be useful for a differential diagnosis:

Whipple's disease is a rare disorder that is thought to result from bacterial infection. Although many tissues and organs may be affected, the mucous membrane (mucosa) of the small intestine is characteristically involved. The disorder may be characterized by impaired intestinal absorption (malabsorption), diarrhea, steatorrhea, weight loss, abdominal pain, anemia, skin pigmentation, joint inflammation (arthritis) and pain (arthralgia), and/or other symptoms and findings. (For more information on this disorder, choose "Whipple" as your search term in the Rare Disease Database.)

Tropical sprue is a disease of unknown cause that occurs in subtropical and tropical regions. The disorder is characterized by abnormalities in the mucosa of the small intestine, malabsorption, multiple nutritional deficiencies, and anemia. Associated symptoms and findings may include diarrhea, steatorrhea, lack of appetite (anorexia), weight loss, and/or other abnormalities. (For more information on this disorder, choose "tropical sprue" as your search term in the Rare Disease Database.)

Giardiasis is an infection of the small intestine caused by the single-celled parasite (protozoa) Giardia lamblia. Many of those infected have no apparent symptoms (asymptomatic). In those who do develop symptoms, such features may include abdominal discomfort, cramping, and bloating; severe episodes of watery diarrhea; increased gas (flatulence); foul-smelling stools; nausea; and vomiting. Some may also have associated fever, chills, headache, and a general feeling of ill health (malaise). In some severe cases, intestinal malabsorption and weight loss may occur. Some individuals may develop chronic giardiasis with or without prior acute illness. Associated symptoms may be continual or episodic. In severe cases, affected individuals may experience malabsorption, weight loss, growth retardation (in affected children), dehydration, and other complications. (For more information on this disorder, choose "giardiasis" as your search term in the Rare Disease Database.)

There are several other disorders that may be characterized by intestinal malabsorption, diarrhea, steatorrhea, abdominal pain, weight loss, and/or other symptoms associated with celiac disease. (For further information on these disorders, choose the specific disease name in question as your search term in the Rare Disease Database.)

Standard Therapies

Celiac disease may be suspected based upon a thorough clinical evaluation, characteristic physical findings, a careful patient history, and specialized tests, including x-ray studies and laboratory tests (e.g., malabsorption screening tests). In addition, specialized blood tests may be conducted to detect specific antibodies typically present in those with the disease (e.g., those directed against a specific part of smooth muscle fibers [serum IgA antiendomysial antibody testing]). The diagnosis may be confirmed through the removal (biopsy) and microscopic examination of small tissue samples from the intestinal mucosa that reveal characteristic changes (e.g., shortened, flattened villi)--with subsequent improvement within the mucosa when the patient is on a gluten-free diet.

In 2004, an independent consensus panel convened by the National Institutes of Health identified six elements that patients with celiac disease are advised to follow. They have been arranged and listed as follows:

C- Consultation with a skilled dietician
E- Education about the disease
L- Lifelong adherence to a gluten-free diet
I- Identification and treatment of nutritional deficiencies
A- Access to an advocacy group, and
C- Continuous long-term follow-up

The treatment of individuals with celiac disease includes removal of gluten from the diet. A gluten-free diet includes the elimination of all wheat, rye, and barley products. Because gluten is included within many food products, affected individuals should receive assistance from experienced dietitians in establishing an appropriate gluten-free diet. Dietitians may also be able to provide information concerning the availability of specially manufactured, gluten-free food products, such as gluten-free bread, flour, and pasta. Additional treatment may include vitamin and iron supplementation.

Some individuals who continue to experience symptoms (refractory celiac disease) may benefit from treatment with certain steroid medications (glucocorticoids). In some cases, additional therapy may be required, including the provision of nutrients through intravenous administration or other appropriate means (parenteral hyperalimentation) and/or therapy with additional immunosuppressant drugs.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment for the disorder is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

Studies are underway to evaluate the possible relationship between a genetic predisposition to celiac disease determined by HLA genes and other genes. These studies, two of which are outlined below, are taking place at several medical centers around the country.

The University of Utah is recruiting participants for a study to locate genes that may predispose individuals to Celiac disease. They seek biopsy or antibody proven patients who have siblings or other extended family members who are also proven CD or DH cases. They cannot use parent-child pairs. The study is funded by the National Institutes of Health and will cover all blood drawing and shipping costs. Those willing to contribute a blood sample, please contact:
Erin Reagan
e-mail: erin@episun5.med.utah.edu

The Columbia Genome Center, in conjunction with Dr. Peter Green of the Department of Medicine, Columbia-Presbyterian Medical Center, is conducting a research program at the Columbia University College of Physicians and Surgeons to identify the gene responsible for Celiac disease. Professor of Genetics and Development, T. Conrad Gilliam, renowned for mapping the genes responsible for Wilson disease and spinal muscular atrophy, is leading the investigation. The key to this type of study is the participation of families in which there are at least two family members affected with Celiac disease.

Participation of unaffected, as well as affected, family members may be needed. Those individuals who consent to participate will be asked to provide a sample of blood for DNA analysis and give permission for release of their diagnostic record. Blood mailing kits with instruction can be mailed directly to family members. The blood can be drawn by a local physician or laboratory and mailed directly to the Genome Center at no cost to the individual.

All interested persons who have at least two biopsy-proven family members with Celiac Disease should contact the Genetic Coordinator, Michele Pallai, at (203) 438-3582, or e-mail: celiac@genome3.columbia.cpmc.edu.

Research on celiac disease continues at the Center for Celiac Research in Baltimore:

University of Maryland
Center for Celiac Research
22 S. Greene Street, Box 140
Baltimore, MD 21201
Web site: http://www.celiaccenter.org.

Celiac Disease Resources



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Report last updated: 2008/03/28 00:00:00 GMT+0