The exact cause of celiac disease is unknown. The lining of the intestines contains areas called villi, which help absorb nutrients. When people with celiac disease eat foods or use products that contain gluten, their immune system reacts by damaging these villi.

This damage affects the ability to absorb nutrients properly. A person becomes malnourished, no matter how much food he or she eats.

The disease can develop at any point in life, from infancy to late adulthood.

People who have a family member with celiac disease are at greater risk for developing the disease. The disorder is most common in Caucasians and persons of European ancestry. Women are affected more often than men.

People with celiac disease are more likely to have:

• Autoimmune disorders such as rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome
• Addison’s disease
• Down syndrome
• Intestinal cancer
• Intestinal lymphoma
• Lactose intolerance
• Thyroid disease
• Type 1 diabetes

The symptoms of celiac disease can be different from person to person. This is part of the reason why the diagnosis is not always made right away. For example, one person may have constipation, a second may have diarrhea, and a third may have no problem with stools.

Gastrointestinal symptoms include:

• Abdominal pain, bloating, gas, or indigestion
• Constipation
• Decreased appetite (may also be increased or unchanged)
• Diarrhea, either constant or off and on
• Lactose intolerance (common when the person is diagnosed, usually goes away after treatment)
• Nausea and vomiting
• Stools that float, are foul smelling, bloody, or “fatty”
• Unexplained weight loss (although people can be overweight or of normal weight)

Because the intestines do not absorb many important vitamins, minerals, and other parts of food, the following symptoms may start over time:

• Bruising easily
• Depression or anxiety
• Fatigue
• Growth delay in children
• Hair loss
• Itchy skin (dermatitis herpetiformis)
• Missed menstrual periods
• Mouth ulcers
• Muscle cramps and joint pain
• Nosebleeds
• Seizures
• Tingling or numbness in the hands or feet
• Unexplained short height

Children with celiac disease may have:

• Defects in the tooth enamel and changes in tooth color
• Delayed puberty
• Diarrhea, constipation, fatty or foul-smelling stools, nausea, or vomiting
• Irritable and fussy behavior
• Poor weight gain
• Slowed growth and shorter than normal height for their age

• Albumin (may be low)
• Alkaline phosphatase (high level may be a sign of bone loss)
• Clotting factor abnormalities
• Cholesterol (may be low)
• Complete blood count (CBC – test for anemia)
• Liver enzymes (transaminases)
• Prothrombin time

Blood tests can detect several special antibodies, called antitissue transglutaminase antibodies (tTGA) or anti-endomysium antibodies (EMA). The health care provider will order these antibody tests if celiac disease is suspected.

If the tests are positive, upper endoscopy is usually performed to sample a piece of tissue (biopsy) from the first part of the small intestine (duodenum). The biopsy may show a flattening of the villi in the parts of the intestine below the duodenum.

Genetic testing of the blood is also available to help determine who may be at risk for celiac disease.

A follow-up biopsy or blood test may be ordered several months after the diagnosis and treatment. These tests evaluate your response to treatment. Normal results mean that you have responded to treatment, which confirms the diagnosis. However, this does not mean that the disease has been cured.

Celiac disease cannot be cured. However, your symptoms will go away and the villi in the lining of the intestines will heal if you follow a lifelong gluten-free diet. Do not eat foods, beverages, and medications that contain wheat, barley, rye, and possibly oats.

You must read food and medication labels carefully to look for hidden sources of these grains and ingredients related to them. Because wheat and barley grains are common in the American diet, sticking with this diet is challenging. With education and planning, you will heal.

You should NOT begin the gluten-free diet before you are diagnosed. Starting the diet will affect testing for the disease.

The health care provider may prescribe vitamin and mineral supplements to correct nutritional deficiencies. Occasionally, corticosteroids (such as prednisone) may also be prescribed for short-term use or if you have sprue that does not respond to treatment. Following a well-balanced, gluten-free diet is generally the only treatment you need to stay well.

When you are diagnosed, get help from a registered dietitian who specializes in celiac disease and the gluten-free diet. A support group may also help you cope with the disease and diet.

For additional information and support, see the organizations listed in celiac disease resources.

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, but it may take 2 – 3 years in adults.

Rarely, long-term damage will be done to the lining of the intestines before the diagnosis is made.

Some problems caused by celiac disease may not improve, such as a shorter than expected height and damage to the teeth.

You must carefully continue to follow the gluten-free diet. When untreated, the disease can cause life-threatening complications.

Delaying diagnosis or not following the diet puts you at risk for related conditions such as:

• Autoimmune disorders
• Bone disease (osteoporosis, kyphoscoliosis, fractures)
• Certain types of intestinal cancer
• Low blood count (anemia)
• Low blood sugar (hypoglycemia)
• Infertility or repeated miscarriage
• Liver disease

Call your health care provider if you have symptoms of celiac disease.

Because the exact cause is unknown, there is no known way to prevent the development of celiac disease. However, being aware of the risk factors (such as having a family member with the disorder) may increase your chances of early diagnosis, treatment, and a long, healthy life.

1. Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357:1731-1743.
2. Semrad CE, Powell DW. Approach to the patient with diarrhea and malabsorption. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 143.

Review Date: 1/20/2010.