Celiac Disease

Celiac Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Celiac Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Celiac Sprue
  • Gluten-sensitive Enteropathy
  • Nontropical Sprue
  • CD
  • Gluten Enteropathy
  • GSE

Disorder Subdivisions

  • None

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.

Symptoms

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.)

Causes

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.

Standard Therapies

Diagnosis

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.



Treatment

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:

www.centerwatch.com



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.



CELIAC GENETIC STUDIES

UNIVERSITY OF UTAH

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



COLUMBIA UNIVERSITY

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.



UNIVERSITY OF MARYLAND

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.

References

TEXTBOOKS

Behrman RE, et al., eds. Nelson Textbook of Pediatrics. 16th ed. Philadelphia, Pa: W.B. Saunders Company; 2000:1165-67.



Beers MH, et al., eds. The Merck Manual. 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:299-301.



Fauci AS, et al., eds. Harrison's Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:1627, 1628-30.



Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, Pa: W.B. Saunders Company; 1996:742-43.



JOURNAL ARTICLES

O'Leary C, Wieneke P, Buckley S, et al. Celiac disease and irritable bowel-type symptoms. Am J Gastroenterol. 2002;97:1463-67.



Vestergaard P, Mosekilde L. Fracture risk inpatients with celiac disease, Crohn?'s disease, and ulcerative colitis: a nationwide follow-up study of 16,416 patients in Denmark. Am J Epidemiol. 2002;156:1-10.



Hansson T, Dahlbom I, Rogberg S, et al. Recombinant human tissue transglutaminase for diagnosis and follow-up of childhood coeliac disease. Pediatr Res. 2002;51:700-05.



Sorell L, Garrote JA, Acevedo B, et al. One-step immunochromatographic assay for screening of coeliac disease. Lancet. 2002;359:945-46.



Catassi C, Fasano A. New developments in childhood celiac disease. Curr Gastroenterol Rep. 2002;4:238-43.



Pena AS, Wijmenga C. genetic factors underlying gluten-sensitive enteropathy. Curr Allergy Asthma Rep. 2001;1:526-33.



Sen S. An update on coeliac disease. Hosp Med. 2001;62:735-39.



Farrell RJ, Kelly CP. Diagnosis of celiac sprue. Am J Gastroenterol. 2001;96:3237-46.



Vanbderhoof JA. Young RJ. Allergic disorders of the gastrointestinal tract. Curr Opin Clin Nutr Metab. 2001;6:553-56.



Schuppan D, Hahn EG. IgA anti-tissue transglutaminase: setting the stage for coeliac disease screening. Eur J Gastroenterol Hepatol. 2001;13:635-37.



Hill I, Fasano A, Schwartz R, et al. The prevalence of celiac disease in at-risk groups of children in the United States. J Pediatr. 2000;136:86-90.



Hovdenak N. Screening for celiac disease in adults. Lakartidningen. 1999;96:4554-56.



Sorensen HT, Thulstrup AM, Blomqvist P, et al. Risk of primary biliary cirrhosis in patients with celiac disease: Danish and Swedish cohort data. Gut. 1999;44:736-38.



Niveloni S, Dezi R, Pedreira S, et al. Gluten sensitivity in patients with primary biliary cirrhosis. Am J Gastroenterol. 1998;93:404-08.



Kingham JG, Parker DR. The association between primary biliary cirrhosis and celiac disease: a study of relative prevalences. Gut. 1998;120-22.



Dickey W, McMillan SA, Callender ME, et al. High prevalence of celiac sprue among patients with primary biliary cirrhosis. J Clin Gastroenterol. 1997;25:328-29.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No: 212750; Last Edit: 6/26/02.



Semrad CE. Celiac disease and gluten sensitivity. 2000:4pp.

http://cpmcnet.columbia.edu/dept/gi/celiac.html



FOR NON-CLINICIANS

National Digestive Disease Information Clearinghouse. NIDDK. Celiac Disease. 2001:10pp.

www.niddk.nih.gov/health/digest/pubs/celiac/



MayoClinic.com. What is Celiac Disease? 2001:7pp.

www.mayoclinic.com/invoke/cfm?id=DS00319



Celiac Sprue Association. Celiac Disease Defined. nd:3pp.

www.csaceliacs.org/celiacdisease.html



MEDLINEplus. Celiac Disease. 2002:2pp.

www.nlm.nih.gov/medlineplus/celiacdisease.htlm

Resources

Gluten Intolerance Group of North America

31214 124th Ave SE

Auburn, WA 98092

Tel: (253)833-6655

Fax: (253)833-6675

Email: info@gluten.net

Internet: http://www.gluten.net



Celiac Sprue Association

P.O. Box 31700

Omaha, NE 68131-0700

USA

Tel: (402)558-0600

Fax: (402)643-4108

Tel: (877)272-4272

Email: celiacs@csaceliacs.org

Internet: http://www.csaceliacs.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Celiac Disease Foundation

20350 Ventura Blvd

Ste 240

Woodland Hills, CA 91364

USA

Tel: (818)716-1513

Fax: (818)267-5577

Email: cdf@celiac.org

Internet: http://www.celiac.org



R.O.C.K. (Raising Our Celiac Kids)

3527 Fortuna Ranch Rd

Encinitas, CA 92024

USA

Tel: (858)395-5421

Fax: (858)756-0431

Email: info@celiackids.com

Internet: http://www.celiackids.com



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Center for Peripheral Neuropathy

University of Chicago

5841 South Maryland Ave, MC 2030

Chicago, IL 60637

Tel: (773)702-5659

Fax: (773)702-5577

Internet: http://peripheralneuropathycenter.uchicago.edu/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Autoimmune Information Network, Inc.

PO Box 4121

Brick, NJ 08723

Fax: (732)543-7285

Email: autoimmunehelp@aol.com



International Scleroderma Network

7455 France Ave So #266

Edina, MN 55435-4702

Tel: (952)583-5735

Tel: (800)564-7099

Email: isn@sclero.org

Internet: http://www.sclero.org



European Society for Immunodeficiencies

1-3 rue de Chantepoulet

Geneva, CH 1211

Switzerland

Tel: 410229080484

Fax: 41229069140

Email: esid@kenes.com

Internet: http://www.esid.org



National Foundation for Celiac Awareness

P.O. Box 544

224 South Maple Street

Ambler, PA 19002

Tel: (215)325-1306

Fax: (215)643-1707

Email: info@celiaccentral.org

Internet: http://www.CeliacCentral.org



CORE

3 St. Andrews Place

London, NW1 4LB

United Kingdom

Tel: 02074860341

Fax: 02072242012

Email: info@corecharity.org.uk

Internet: http://www.corecharity.org.uk



Coeliac Society of Australia Inc.

Suite 1, 41 - 45 Pacific Highway

Waitara, NSW 2077

Australia

Tel: 0294875088

Fax: 0294875177

Tel: 1800458836

Email: info@coeliacsociety.com.au

Internet: http://www.coeliacsociety.com.au



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.