What is celiac disease?

Celiac disease is a condition in which the body's immune system reacts against the protein gluten, which is found in wheat, rye and barley. As a result, people with celiac disease cannot properly digest foods with gluten, such as bread and pasta.

When a person with celiac disease eats gluten, the villi (tiny finger-like projections in the small intestine that absorb nutrients from food) are damaged. Damaged villi do not effectively absorb and digest nutrients — such as proteins, vitamins, minerals, carbohydrates and fats — from food. As a result, a person with celiac disease may not get the nutrients they need to grow and live well.

Celiac disease is one of the most common genetic conditions in the world, affecting 1 in every 133 people. There are 3 million people in the United States who have celiac disease. They are of all races, ages and genders. Celiac disease is not an allergy. It is an autoimmune disorder. Individuals cannot "grow out" of celiac disease as they may a wheat allergy. It requires lifelong treatment.

It can be very challenging to diagnose celiac disease, and it can be misdiagnosed as other conditions such as inflammatory bowel syndrome (IBD) or lactose intolerance. If left untreated, celiac disease can cause chronic and life-threatening damage to the intestine and lead to an increased risk of other nutritional and immune-related disorders. 

Causes

It is not known what causes celiac disease. Researchers have determined there is a genetic component to the disease. A person with celiac disease has an increased chance their children or siblings will also have the disease. Five to 10 percent of children with a family history of celiac disease will develop the disease themselves, and up to 22 percent of patients with celiac disease have an immediate family member who also has the disease. If one identical twin has celiac disease, there is a 70 percent chance the remaining twin will also have the disease.

Family members who have autoimmune disorders are also at an increased risk of developing celiac disease. There are also associated conditions that could put people at higher risk for celiac disease and should be screened regardless of symptoms, including diabetes, thyroid disease, and down syndrome. 

Experts at the Center for Celiac Disease at CHOP strongly suggest testing all family members when one has been diagnosed with celiac disease, even if the siblings or other family members show no symptoms.

Signs and symptoms

Celiac disease is a multi-symptom, multi-system disorder. The symptoms can vary greatly depending on a child’s age and are not always gastrointestinal in nature. Celiac disease can appear at any time in a person's life — from early childhood to late adulthood.

These are some common symptoms of celiac disease in children and adolescents:

• Poor growth
• Weight loss
• Short stature
• Delayed puberty
• Diarrhea
• Constipation
• Poor appetite
• Food aversion
• Behavior changes
• Dental enamel defects
• Iron deficiency anemia or other vitamin or mineral deficiencies
• Chronic fatigue
• Gas
• Skin disorders that produce small itchy blisters on the elbow, feet or knees
• Vomiting
• Irritability
• Abdominal pain or cramping
• Bloated abdomen or “potbelly”
• Fatigue
• Osteoporosis or multiple fractures
• Headaches

Some people will experience no symptoms.

Testing and diagnosis

At the Center for Celiac Disease, part of the Division of Gastroenterology, Hepatology and Nutrition, clinical experts use a variety of diagnostic tests to diagnose celiac disease, including blood tests, endoscopy and biopsy.

Blood tests can help diagnose and manage celiac disease. Some children may not have symptoms and are only identified with the disease through a screening blood test.

Blood tests for celiac disease look for antibodies showing the immune system's response to the gluten in your child’s diet. It’s important that your child continues eating gluten when being tested. If your child is not eating gluten at the time of testing, his or her immune system won't be producing antibodies for the blood tests to identify.

Your child will receive one or more of the following blood tests if celiac disease is suspected:

• EMA (anti-endomysial antibodies)-IgA
• AGA (antigliadin antibodies)-IgA
• AGA-IgG
• tTG (anti-tissue transglutaminase)-IgA
• Total serum IgA
• DAGL (deamidated gliadin antibody)

If your child’s test results are positive, an upper gastrointestinal endoscopy (EGD) will likely be performed to confirm the diagnosis of celiac disease. A child should be on a regular diet prior to getting the endoscopy.

During this diagnostic test, a small tissue sample will be taken from your child’s small bowel, and then tested. This is called a biopsy. If the tissue looks inflamed and damaged when examined under a microscope, celiac disease is confirmed.

Newly-diagnosed patients at the center attend an education class with their families and caretakers to learn about celiac disease and nutrition and their personalized treatment plan.

Treatments

At this time, there is no cure for celiac disease. It is a lifelong condition and requires long-term treatment.

Eliminating gluten from your child’s diet will improve symptoms of celiac disease. When gluten is completely removed from your child’s diet, the lining of the small intestine will heal.

Changing your child’s food habits to eliminate foods containing gluten — such as wheat, rye, and barley — from their diet is challenging. Gluten can be found in more than just food; it can also be found in medications and common items many people use every day. Below is a partial list of items that gluten can be found in:

• Prescription and over-the-counter medication (see gluten-free vitamins and supplements)
• Makeup, such as lipstick, lip gloss and lip balm
• Shampoo, conditioner and lotion
• Mouthwash and toothpaste
• Playdough and paints
• Adhesive of stamps and envelopes

Some children will also need to restrict products with lactose — such as milk — for a period of time.

To help you better understand what your child can safely eat, we encourage you to make an appointment with a registered dietitian at the Center for Celiac Disease. Our dietitians will discuss eliminating certain grains from your child’s diet and how to maintain a balanced, nutritious diet for your child.

Outlook

Living with celiac disease is overwhelming — especially at first. Whether your child has been newly diagnosed with celiac disease or your family has been dealing with the disease for years, the Center for Celiac Disease at CHOP is available to help. And our support extends beyond your immediate family. We work with your local community— including school systems— so that it makes it a little easier to provide life-long care. 

If your child complies with a gluten-free diet, chances are good that he or she will avoid the potential complications of celiac disease. Beginning a gluten-free diet has become easier in recent years. Most supermarkets carry a selection of gluten-free foods and the variety of food is constantly increasing.

To help you better recognize the food, ingredients and additives your child with celiac disease can safely consume, our staff have compiled a helpful list. See gluten-free foods.

You can also hear from other children and teens with celiac disease, to learn how they manage their gluten-free diet with school, sports, friends and activities. See Advice From Patients. 

Children who go undiagnosed, untreated or who consciously continue eating gluten may experience significant long-term complications of celiac disease including:

• Anemia
• Depression
• Gallbladder malfunction
• Increased risk of hemorrhage
• Intestinal lymphomas and other GI cancers
• Juvenile-onset diabetes
• Nervous system disorders
• Nutritional deficiencies
• Osteoporosis
• Pancreatic insufficiency
• Thyroid disease

Follow-up care

After your initial visit and education session, you will likely be asked to come back in three months, six months, and 12 months. Yearly follow-ups are recommended after that with the gastroenterologist and nurse practitioner.

At each follow-up visit your doctor and nurse practitioner will monitor your child’s weight and height. They may also order blood tests. Blood tests can help us know if your child is following the gluten-free diet or to identify if there is unknown gluten in your child’s diet.

Your doctor may also refer you to other members of the Celiac Center team, such as a dietitian or psychologist.

Center staff have set up email addresses and online support groups to answer questions for families at the center, the general public and outside physicians. The team also provides family screening for celiac disease, as well as assistance with adult gastroenterologist referrals.

Every year, the center hosts an education day about celiac disease for CHOP families which features a range of gluten-free foods, child activities, speakers and gluten-free vendors. The staff also travels to educate other physicians and cafeteria staffs at schools about celiac disease.