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Celiac Disease

  • An immune reaction to gluten, a protein in wheat, barley, and rye
  • Symptoms include weakness/fatigue, anemia, diarrhea, rash
  • Treatment involves following a gluten-free diet
  • Involves gastroenterology
Related Terms:

Celiac Disease


A diagnosis of celiac disease is a classic good news, bad news scenario. Good, because most people are pleased to know there is a cause for the digestive discomfort they have been experiencing. But bad, because inconvenient dietary limitations are, at present, the only way to treat the disease. 

Celiac disease is a digestive disorder triggered by a reaction to foods that contain gluten (a protein found in wheat, barley, rye, and other grains). When people with celiac disease eat foods that have gluten, the small intestine becomes inflamed, making it difficult for the body to absorb key nutrients. Symptoms of celiac disease vary widely but may include weakness, loss of appetite, and diarrhea. Some people, however, have no digestive symptoms at all.

It’s estimated that 1 percent of adults in the world have celiac disease. At present, the only “treatment” is to follow a strict gluten-free diet. This allows your intestines to heal, stopping further damage from occurring. It also reduces uncomfortable symptoms and allows the body to take in the nutrients it needs.

In rare cases, undiagnosed and untreated celiac disease can lead to lymphoma of the small intestine and other serious medical problems. Therefore, proper diagnosis is critical.

“Celiac disease is often a missed diagnosis, since symptoms can be nonspecific. At Yale Medicine Digestive Diseases, we have experts who will perform the appropriate diagnostic tests,” says Badr Al Bawardy, MD, gastroenterologist and inflammatory bowel disease specialist. “After diagnosis, we work closely with our dieticians to help our patients follow a gluten-free diet. The majority of patients notice an improvement in symptoms in a matter of weeks after instituting a gluten-free diet. We continue to monitor patients after diagnosis and treatment to make sure that the symptoms resolve and that the intestines heal.”

What is celiac disease?

Celiac disease is an autoimmune disorder that has a genetic basis, which means it can run in families. When people with celiac disease ingest gluten, the immune system mistakenly considers it a threat and produces antibodies (infection-fighting cells) to ward it off.

Elevated levels of these antibodies damage the inner lining of the small intestines, namely by flattening the villi (tissues that assist with absorbing nutrients). You cannot adequately absorb nutrients when villi are flattened. 

What are the risk factors for celiac disease?

You must carry at least one of two genes (HLA-DQ2 or HLA-DQ8) that are associated with celiac disease in order to develop it.  

Still, merely having one of these genes doesn’t mean you will definitely get celiac disease. Those with a sibling or parent with the condition are more likely to have it, as are people with type 1 diabetes, Down syndrome, or Turner syndrome, which is a genetic condition that affects development in girls. Researchers are unsure why celiac disease is more common with these conditions, but it may have to do with sharing a genetic variant, Dr. Al Bawardy says.

While celiac disease can affect anyone, it is most common in women and among people of northern European heritage. Onset of the disease can happen at any age, infancy through old age. 

What are the signs and symptoms of celiac disease?

For most adults, celiac disease causes one or more of the following symptoms:

  • Weakness/fatigue
  • Anemia (low blood count)
  • Loss of appetite
  • Malnourishment
  • Weight loss
  • Diarrhea
  • Mouth sores and inflamed tongue
  • Osteoporosis or osteopenia (thinning bones)
  • A rash with small blisters (dermatitis herpetiformis) that is asymmetrical and appears on knees or elbows
  • Infertility

The severity of symptoms depends on how much of the small intestine is affected. People who are considered at risk for celiac disease (such as having a first-degree relative with the condition) should consider screening, even if they don’t exhibit symptoms. The screening can be done through a blood test for antibodies. 

How is celiac disease diagnosed?

Many of the symptoms of celiac disease are similar to those found in other conditions, such as irritable bowel syndrome, lactose intolerance, and inflammatory bowel disease. This can make diagnosis difficult based on your symptoms alone.

But your doctor can form a clearer picture by talking with you about your family history of celiac disease and other autoimmune disorders, and performing a physical exam.

Additionally, the following tests may help confirm the diagnosis:

  • Blood work: This tests for antibodies commonly associated with celiac disease. Anti-tissue transglutaminase is a common one performed. (A false-negative result can occur if you are on a strict gluten-free diet at the time of testing.)
  • Biopsy: Your doctor may want to do a biopsy if the blood test indicates celiac disease or if other related antibodies are elevated. This will be done with an upper GI endoscopy, which involves taking small pieces of tissue from your small intestine to look for damaged villi.
  • Genetic tests: If a diagnosis is still not clear from blood work or a biopsy, or you are already on a gluten-free diet, you may need a genetic test, which looks for one of the two celiac genes. A positive test result, however, doesn’t necessarily mean you have the condition, as many people have the gene variants but never develop the disease. 

How is celiac disease treated?

There is no cure for celiac disease. If you have it, you must exclude all gluten from your diet for the rest of your life. Eating even a small amount can trigger symptoms.

Gluten is found in far more types of food than most people realize. Therefore, many patients find it helpful to work with a dietician, who can recommend alternate foods to ensure you are getting proper nutrients. A dietician or nutritionist can also teach you how to properly read food and other product labels to check for gluten.

You will need to avoid other products that contain gluten, including herbal, vitamin, mineral, and nutritional supplements. Some over-the-counter and prescription medicines may also contain gluten. Additionally, you should be careful when handling other gluten-containing products (Play-Doh, skin and hair care items, toothpaste, mouthwash, communion wafers, cosmetics such as lip gloss) and then touching your mouth.

Once you remove gluten from your diet, your small intestine’s surface (and ability to absorb nutrients) will return to normal. Symptoms should go away within a week or two. A small number of celiac patients experience refractory celiac disease, which involves recurring or persisting symptoms despite a strict adherence to a gluten-free diet. If that does occur, further blood testing and another biopsy may be performed. Refractory celiac disease requires close follow-up with an expert gastroenterologist. At that point, steroid medications (such as budesonide or prednisone) might be considered.

What stands out about Yale Medicine’s approach to celiac disease?

At Yale Medicine, our highly trained gastroenterologists are experienced at treating conditions such as celiac disease. We work closely with experts across multiple disciplines to ensure you receive the most comprehensive treatment options.

“A diagnosis of celiac disease is associated with a significant lifestyle change for patients. It can be difficult to understand which foods are truly gluten-free. At Yale, we have the expertise needed to help guide patients in following the gluten-free diet,” says Dr. Al Bawardy. “Plus, we continue to follow patients after the initial diagnosis to ensure that symptoms have disappeared and the intestines have healed.”