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Patient Question

What is celiac disease and how is it diagnosed?


Associate Professor of Pediatrics
Department of Pediatrics
Chief, Division of Pediatric Gastroenterology

Expert Answer

Celiac disease, also known as celiac sprue or gluten intolerance, is an inherited digestive disease. However, many people with the disease do not have a known affected family member. Those with celiac disease have an intolerance to foods containing gluten, a protein found in barley, rye, and wheat. Gluten is found in a large number of foods and medications. Celiac disease is associated with certain other conditions including Down syndrome and type 1 diabetes.

In celiac disease, the body's immune system responds to gluten by attacking the lining of the small intestines. This lining is made up of villi. The villi normally absorb the nutrients from the foods we eat. When the villi are damaged, the body can't get the nutrients it needs (malabsorption). Unhealthy villi can lead to malnutrition despite the quantity and quality of the foods eaten.

Celiac disease may be under-diagnosed since the symptoms vary greatly and are similar to many other diseases. Some people with celiac disease develop symptoms as children and others as adults. A number of those affected never develop symptoms at all. Celiac disease can occur with or without digestive symptoms.

A surge in the diagnosis of celiac disease has occurred over the last decade. This is at least in part due to increased recognition by physicians of the wide range of symptoms that may occur with the disease. Symptoms of celiac disease may include:

  • Chronic diarrhea
  • Constipation
  • Delayed growth
  • Failure to thrive (poor growth)
  • Flatus
  • Infertility
  • Irritability in children
  • Muscle cramps
  • Osteoporosis
  • Pale sores in the mouth (aphthous ulcers)
  • Pale, foul smelling stool
  • Recurrent miscarriage
  • Recurring abdominal pain and bloating
  • Seizures
  • Skin rash (dermatitis herpetiformis)
  • Tingling/numbness in legs
  • Tiredness
  • Tooth discoloration or loss of enamel
  • Unexplained anemia
  • Weight loss or gain

If your doctor thinks you might have celiac disease, you will probably need to have your blood tested for several antibodies associated with the disease. You will be asked to continue eating gluten since a gluten-free diet may affect the results of the blood test. If the blood test suggests celiac disease, your doctor will likely recommend a small bowel biopsy. This is a procedure usually done under sedation in which a small thin tube called an endoscope is passed through your mouth and into your stomach and small intestine to take a tiny sample of your small intestine to examine closely. In the medical field, this is the "gold standard" test recommended to establish a definitive diagnosis of celiac disease. The only treatment for celiac disease is a lifelong gluten-free diet. For most, the diet will stop the symptoms and begin healing the damage to the small intestines. Foods allowed and those to avoid include:

Foods Allowed
Amaranth, arrowroot, buckwheat, cassava, corn, flax, Indian rice grass, Job's tears, legumes, millet, nuts, potatoes, quinoa, rice, sago, seeds, sorghum, soy, tapioca, wild rice, and yucca.

Foods to Avoid
Barley, bromated flour, cracked wheat, durum flour, einkorn, emmer, enriched flour, farina, graham flour, hydrolyzed wheat protein, kamut, phosphated flour, plain flour, rye, selfrising flour, semolina, spelt, triticale, wheat, wheat bran, wheat germ, wheat starch, and white flour.

Some processed foods, medicine, cosmetics, and everyday products may contain barley, rye, or wheat. Your doctor may suggest working with a dietitian (a specialist in food and nutrition) to learn more about the diet, how to read food labels, and inquire about how food is prepared when dining out in restaurants. Despite the gluten-free diet restrictions, you can eat a healthy well-balanced diet.

If you believe that you or your child may have celiac disease, speak with your physician about a referral to a pediatric or adult gastroenterologist. It is generally not recommended to institute a gluten-free diet on one's own.


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