Symptoms:

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

Signs and tests:

• 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.