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About Celiac Disease

Alternative Names

Celiac sprue; gluten-sensitive enteropathy; nontropical sprue

Symptoms & Characteristics

Celiac disease is a digestive disorder in which the immune system responds to the protein gluten by damaging the small intestine. Gluten is a protein in wheat, rye and barley. Although it is mainly found in foods, it may also be in other products such as medications, vitamins, and glue on stamps and envelopes.

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Celiac disease affects each person differently. Some people do not have any symptoms, while others have symptoms that occur in the digestive system or in other parts of the body. These symptoms may include:

  • diarrhea
  • abdominal pain (bloating and gas)
  • canker sores
  • grayish stools (fatty or oily)
  • fatigue and weakness
  • weight loss
  • irritability
  • depression

Unrecognized, celiac disease can lead to malnutrition, which may cause vitamin deficiencies and other illnesses.

Treatment

There is currently no cure for celiac disease. Treatment is a gluten free diet.

If someone notices or experiences any of the signs or symptoms common to celiac disease, it is important to see a doctor immediately.

How Common Is It?

An estimated 1 in 100 Americans have celiac disease. Celiac disease is often thought to be misdiagnosed and undertreated, as the symptoms may be general and non-specific. Celiac disease is more common in people of European ancestry.

Genetics & Inheritance

The causes of celiac disease are largely unknown. Celiac disease is most likely a multifactorial condition, which means it involves a combination of genetic, lifestyle and environmental factors.

  • Many environmental factors have been proposed to possibly contribute to celiac disease including (but not limited to): physical trauma, infections, the state of pregnancy, as well as severe stress or surgery. However, the exact associations are unclear.

It is currently well established that celiac disease also runs in some families. Researchers believe that there are probably a number of genes that affect the development and symptoms of celiac disease.

Researchers have identified that certain variations (called DQ2 and DQ8) of HLA genes (located on chromosome 6) can cause susceptibility to develop celiac disease in some people.

  • There are many different variations of the HLA genes, and they all determine and govern how our immune system functions.

Other yet to be identified or adequately classified genes may also contribute to celiac disease.

A genetic consultation with a trained genetic professional may be beneficial in discussing the benefits and limitations of genetic testing as well as recurrence risk for celiac disease within a family.

Genetic Testing

Genetic testing for susceptibility to celiac disease is available online (over the internet) or through an in person genetic consultation for people who are considered at risk. Go to the Tests tab to link to online providers, compare providers and read provider reviews; or use our find a genetic professional directory to locate a trained genetic professional in your area.

Informational genetic testing for susceptibility to celiac disease is available online (over the internet) as part of a whole genome scan. Whole genome scanning involves analyzing thousands of SNPs at once related to a number of different health conditions.

  • At this point, many genetic professionals do not consider this testing clinically useful or medically relevant, but for informational purposes only. Go to the Tests tab to link to providers, compare providers, and read provider reviews.

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Last Reviewed October 15, 2009

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