Jefferson University Hospitals

Frequently Asked Questions

Why is celiac so difficult to diagnose?

There are several reasons why celiac can be very difficult to diagnose. Often, it presents with seemingly unrelated symptoms – from fatigue and joint pain to anemia and infertility. It can also be confused with other conditions, such as irritable bowel syndrome, Crohn's disease, ulcerative colitis, bacterial overgrowth syndrome, intestinal infections, chronic fatigue syndrome and depression. Compounding the problem is the fact that many physicians simply were not educated on diagnosing celiac disease.

Is celiac usually diagnosed in children or adults?

You can be diagnosed with celiac disease at any age. In many cases, adults who are diagnosed have had the disease for years and not received a proper diagnosis. The Jefferson Celiac Center specializes in diagnosing and treating children and adults.

Can blood tests be used to diagnose celiac disease?

Yes, blood tests can be useful in diagnosing celiac disease. People with celiac have elevated levels of certain antibodies – that is, proteins that target the body's own cells or tissues. Blood tests can help determine if such antibodies are present. Antibodies include tissue transglutaminase, endomysial and giladin.

Another blood test that should be checked along with antibody testing is for IgA deficiency – something that occurs more commonly with celiac disease and can affect the reliability of the antibody testing.

Can blood tests alone confirm a diagnosis of celiac disease?

In a word, no. If the blood tests and symptoms suggest celiac disease, the next step is typically an upper endoscopy with small bowel biopsy – the best way to confirm a diagnosis of celiac. Through this procedure, tiny pieces of tissue are removed from the small intestine to check for damage to the villi (the tiny, finger-like protrusions of the small intestine). During this procedure, you are sedated, and the physician inserts a long, thin tube (endoscope) through the mouth and stomach into the small intestine. The physician takes a sample of tissue using instruments passed through the endoscope.

A biopsy is the best way to confirm the presence of celiac disease and to rule out other conditions that can mimic celiac disease.

What is the connection between the skin condition called dermatitis herpetiformis (DH) and celiac disease?

Dermatitis herpetiformis (DH) – an itchy, blistering skin condition – occurs in association with celiac disease.

The painful rash of DH may appear anywhere, but usually on the knees, elbows and/or buttocks. Interestingly, many individuals with DH do not have digestive symptoms of celiac disease. What's more, nearly half of those with DH do not test positive when their blood samples are analyzed. Even so, they almost always have the same intestinal damage as people with celiac disease.

DH is confirmed through a skin biopsy – the removal and testing of a small piece of skin near the rash. The presence of the IgA antibody confirms a diagnosis of DH and, by extension, celiac disease. Thus, if you have DH, you almost certainly have celiac disease. Though you would need to begin following a gluten-free diet, we would advise seeing our celiac disease specialists first, as additional baseline testing may be helpful for future management.

Who should be tested for celiac disease?

Among adults, the following individuals should be tested for celiac disease:

  • Any person with dermatitis herpetiformis (DH)
  • Any person with a first-degree relative with celiac disease (5 to 10 percent risk of celiac disease)
  • Any person who has a related autoimmune disorder, even if there are no symptoms of celiac. Those disorders include insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, Turner syndrome, Williams syndrome, Graves' disease and Sjögren's syndrome.
  • Any person with Down syndrome.
  • Any woman who has experienced recurrent miscarriages or infertility where no other medical cause has been identified.
  • Any individual who has experienced persistent gastrointestinal symptoms, dental enamel hypoplasia, fatigue, bone density problems and other signs and symptoms.

Once you have been tested, is there ever a reason to be retested?

There are three factors that combine to cause celiac disease:

  • An over-responsive immune system
  • A genetic predisposition to the disease
  • Elements of your environment

We know for certain that people are born with the genes that make them vulnerable to developing celiac disease. We also know that gluten – a protein found in wheat, barley and rye – is what triggers the autoimmune response. However, the environmental factors present some unknowns. Some individuals can consume foods with gluten for years or even decades before developing the disease. In other people, celiac disease can be "silent," so while a person is eating foods with gluten and appears to be fine, he or she is not, in fact, healthy. Finally, most individuals with the genetic predisposition for getting celiac disease – even if someone in their family has celiac disease – will never develop the disease regardless of their diet.  

The bottom line: Celiac can develop at any time in people with the genes for celiac disease, in people with a related autoimmune disorder (namely, insulin-dependent diabetes mellitus, Hashimoto's thyroiditis, Turner syndrome, Williams syndrome, Graves' disease and Sjögren's syndrome), and in people with Down syndrome. Thus, it is important for such individuals to be tested regularly. An early diagnosis can help prevent the development of other autoimmune diseases, as well as a variety of other complications of celiac.

Is there a way to screen for celiac?

Most screening is done with antibody testing, but occasionally genetic testing is helpful. Genetic testing can help determine whether or not an at-risk person carries the genes responsible for celiac disease. It turns out that one-third of the U.S. population has at least one of these two genes. Therefore, having the gene does not mean you have celiac disease, but it does mean you have the possibility of developing it at some point in your life.

First-degree relatives – parents, children and siblings – of someone with celiac disease have a 5 to 10 percent chance of developing the disease themselves and should be screened. If the genetic screening shows the presence of the genes that make someone vulnerable to get celiac, regular antibody testing should be performed to determine if and when the disease becomes active. Between testing, it is important to see your physician if symptoms suggestive of celiac disease develop.

Though some countries offer screening at birth, such as Italy, currently there is no "simple" way to screen for celiac disease in the U.S. population at large.

If celiac disease is suspected, should a person do a "trial" of a gluten-free diet?

It is not advisable to initiate a gluten-free diet without a medical evaluation. After a few months on this diet, the opportunity to establish a definite diagnosis may be lost because both antibody tests and the small intestine biopsy become normal. Knowing whether or not you truly have celiac disease has lifelong implications for your care and that of your first-degree relatives. Thus, waiting a few weeks and seeing your physician before going on a gluten-free diet is strongly recommended.

What is a gluten-free diet?

When following a gluten-free diet, you must avoid all foods and beverages that contain wheat (including spelt, triticale and kamut), as well as foods with rye and barley. The same holds true for any products that you might apply to your lips or mouth, such as lipstick, lip balms and even toothpaste. It is not unusual to feel upset about not being able to eat some favorite foods – such as bread, pasta and baked goods. However, there are many gluten-free bread and pasta options on the market today. And you can continue to prepare baked goods; just use bean, potato, rice or soy flour instead of wheat flour. Also, keep in mind that there are many healthful and delicious foods that are naturally free of gluten. Examples include plain meat, fish, rice, fruits and vegetables.

Does a gluten-free diet cure celiac disease?

There is no "cure" for celiac disease, but for most people with this condition, a gluten-free diet helps keep the disease in check. Over time, most people's bodies will gradually heal from the damage that gluten caused prior to their diagnosis and initiation of the gluten-free diet.

Will I feel better when I am following a gluten-free diet?

For most people with celiac, a gluten-free diet provides some important benefits – including alleviation of symptoms and a general improvement in their sense of well-being. Of course, everyone is different, and how quickly you experience positive changes can depend upon how severe and long-lasting your symptoms were.

Also, it can take some time to achieve a truly gluten-free diet. It can be challenging to learn – and begin to avoid – foods and beverages with gluten. You could experience some setbacks along the way. But over time, you will become a "pro" at following a gluten-free diet – and are likely to feel better as a result.

If I have celiac, can't I "cheat" and eat gluten – just every now and then?

Absolutely not! Even a small amount of gluten will trigger the autoimmune response and can lead to serious complications of celiac disease. Don't fool yourself; that damage occurs even if you do not experience any obvious problems or symptoms after consuming gluten.

If I have celiac and feel OK without dietary restrictions, why should I follow a gluten-free diet?

It is quite possible to cause serious complications without experiencing any "obvious" signs or symptoms. If you have been diagnosed as having celiac disease, following a gluten-free diet is the only way to reduce the chance of the serious complications and related diseases that can occur in the long term.

What if I try the gluten-free diet but still experience debilitating signs and symptoms?

There are several possible explanations for this outcome. The most likely explanation: You are still getting some gluten in your diet, or it is entering your intestines in some other way you did not consider. Some of those other ways include medicines, lipstick, lip balm, mints or snack foods containing gluten. Another common problem is cross-contamination, such as sharing condiments with others who are not following a gluten-free diet or using a pot or a pasta colander that contains traces of gluten.

Another possibility is that you have another condition that is associated or unassociated with celiac disease. Some common associated conditions include lactose intolerance, requiring discontinuation of dairy products, or microscopic/collagenous colitis, which is a colon disorder treated with specific medications. An intestinal complication of celiac disease may also occur and require specialized diagnostic tools and treatment.

Through the Jefferson Celiac Center, you will benefit from the availability of state-of-the-art technologies allowing previously unobtainable access to the entire small intestine. The most current radiologic imaging with MRI and CT and advanced endoscopic procedures – including capsule endoscopy, single and double balloon enteroscopy and spiral enteroscopy – are all available. These allow both visualization and biopsy of the small intestine.

Finally, you might not really have celiac disease. As awareness of celiac disease is increasing, some have been incorrectly given this diagnosis without proper testing. Many other diseases imitate celiac disease.

What are some of the small-bowel complications of celiac?

There are a number of small-bowel complications that can occur among patients whose celiac was previously well-controlled or among newly diagnosed patients who are not getting better. The most common such complications include:

  • Refractory sprue that is not responding to a gluten-free diet
  • Jejunoileitis – an inflammatory condition of the small bowel
  • Lymphoma and other cancers

How can I eat out on a gluten-free diet?

If you are following a gluten-free diet, you must be vigilant about what you eat at home and when you're out. At a restaurant, it is important to ask for a gluten-free menu and don't be afraid to ask the server about specific ingredients in order to avoid the risk of cross-contamination.

At first, it can be overwhelming to know which foods you can and cannot eat. But, in time, you will become an expert at knowing which foods are safe to consume, and you will find that certain restaurants provide a variety of gluten-free foods.

Here are some tips when you're eating out:

  • Diners - Eggs, salads, grilled chicken, broiled fish and burgers without the bun can be made to order without gluten. Watch for Whirl (butter on grills). Skip the soups and sauces; they're frequently made with gluten-containing thickeners. Ask for oil and vinegar to use as salad dressing and hold the croutons. Ask if the restaurant has a fryer that is dedicated to French fries. Make sure gluten foods are not cooked in same grill as gluten free.
  • Mexican - Watch the seasoning. Just ask for 100 percent corn tortillas to be substituted for the flour ones. Salsa, sour cream and guacamole are gluten free.
  • Chinese - Soy sauce is made from gluten; order steamed food ONLY.
  • Japanese - Some cooked Japanese dishes are prepared with gluten teriyaki or soy sauce, but feel free to enjoy sushi or sashimi and simply bring your own bottle of gluten-free soy sauce.
  • Italian - Risotto is a naturally gluten-free entrée. Choose potatoes or rice. Some restaurants make gluten-free pasta. For dessert, enjoy fresh fruit or sorbet.

Many restaurants now advertise gluten-free selections, and you can often view their menus online:

Where can I find a list of foods that are gluten free?

It's important to know not only which foods and drinks are safe or off-limits, but also to know about ingredients and additives that may contain gluten. To help you and your loved ones learn the gluten-free ropes, you may wish to explore the diet and lifestyle resources of the Celiac Disease Foundation.