Bellyaches are a common complaint among children. For parents, determining whether tummy trouble is run-of-the-mill or perhaps a chronic and more serious condition is not always easy.

One chronic digestive disorder that can cause such symptoms is celiac disease. Celiac disease is a digestive disorder in which the small intestine becomes inflamed and damaged by gluten, a protein found in wheat, barley, rye, and other grains.

Symptoms of celiac disease in children (which are not necessarily the same as in adults) typically include abdominal bloating and digestive issues. Because celiac disease interferes with nutrient absorption, it can also lead to growth problems. In the United States, an estimated 1 in 133 people have celiac disease. Considered an autoimmune condition, the condition is genetic. The only way to “treat” celiac disease is to adhere to a gluten-free diet. Abstaining from foods with gluten not only allows the small intestine to heal, it also helps manage uncomfortable symptoms and allows the body to take in necessary nutrients.

Diagnosing celiac disease promptly is important because undiagnosed and untreated celiac disease can lead to bone problems, short stature, and, in rare cases, cancer of the digestive tract, as well as other serious problems. Yale Medicine’s pediatric gastroenterologists are experienced at diagnosing and treating children with celiac disease—and other gluten-related disorders—offering comprehensive care for children and their families.

Celiac disease is a hereditary disorder, meaning that having a family history of the condition raises your risk. When a person with celiac disease ingests gluten, it damages the intestine and usually leads to a host of uncomfortable digestive symptoms. 

For people with celiac disease, the immune system sees gluten as a threat and produces certain antibodies (infection-fighting cells) to “fight” it.  High levels of these antibodies harm the inner lining of the small intestine, flattening the villi (finger-like tissues that help with nutrient absorption). If the villi are flattened, the intestine cannot properly take in nutrients.

Celiac disease is most common in people of northern European heritage and in women, though it can affect anyone. While children are born with the genetic predisposition for the disease, the age of onset can vary, ranging from infancy to old age.

“In order to develop celiac disease, you need to carry one of the two genes associated with it which are HLA-DQ2 and HLA-DQ8,” explains Anthony Porto, MD, MPH, associate clinical chief of Yale Medicine Pediatric Gastroenterology & Hepatology. “On average, 35 to 40 percent of the U.S. population carries one or both of these genes.”

But according to Dr. Porto, the fact that you carry one of the genes doesn’t automatically mean you will get celiac disease.  “Approximately 3 percent of those who are susceptible to it will get it,” he says, adding that 60 percent of the population has no risk of getting it.

You are more likely to have celiac disease if a first-degree relative (sibling or parent) has it or if you have type 1 diabetes, Down syndrome, or Turner syndrome (a genetic disorder that affects a girl’s development). This is typically due to the increased presence of one or more at-risk genes, says Dr. Porto. 

Celiac disease can cause a range of digestive problems:

• Bloating
• Diarrhea
• Constipation
• Vomiting
• Abdominal pain
• Foul-smelling stools

Because food provides nutrients that fuel a child’s growth and development, celiac disease can be especially problematic for children. In particular, it can cause iron and vitamin D deficiencies. Other problems can include the following:

• Delayed puberty
• Slowed growth and short height
• Damage to the enamel of permanent teeth, with grooves or pits of the teeth
• Weight loss
• Abnormal liver enzyme levels (an elevation could signal inflammation in the liver)
• A rash with small blisters (dermatitis herpetiformis)

Symptoms can vary, and a child with no symptoms can still develop complications from the disease if left untreated.

Dr. Porto says that a child with a first-degree relative (parent or sibling) with celiac disease should be screened regularly, even if he or she doesn’t have any symptoms. “You can have damage without symptoms,” he says. “The child may be asymptomatic but have abnormal tests and an inflamed intestine.”

Sometimes he recommends a genetic marker test (via cheek swab) during their first year of life to determine whether the child carries the gene and is at risk for developing celiac disease. In those at risk, he advises screening blood tests every two to three years beginning at around age 2 or, if the child has developed possible symptoms of celiac disease, even earlier. 

Diagnosing celiac disease can be tricky because its symptoms are similar to other conditions, such as inflammatory bowel disease, irritable bowel syndrome, and lactose intolerance.

Your physician will start by taking a history of your child’s symptoms, including asking about family history of celiac disease and of autoimmune disorders. The doctor will perform a physical exam and evaluate your child for rashes or vitamin deficiencies (certain mouth ulcers or canker sores are common in Vitamin B deficiencies) associated with celiac disease.

Tests may include the following:

• Blood work: Your doctor may take a blood sample and send it to a laboratory to test for antibodies commonly associated with celiac disease. A common one is anti-tissue  transglutaminase.

• Biopsy: If the blood test suggests celiac disease or if relevant antibodies are elevated, your doctor will recommend a biopsy. This involves removing small pieces of tissue from your small intestine during an outpatient procedure (called an upper GI endoscopy). The sample will be examined in a lab to look for damaged villi, a characteristic of celiac disease.

• Genetic tests: If blood tests and a biopsy are inconclusive and the patient is already on a gluten-free diet, the doctor may order a genetic test to look for one of the two celiac genes. But it’s important to note that a positive test result doesn’t necessarily confirm celiac disease—many people have these gene variants and don’t develop it.

The only way to treat celiac disease is to permanently remove gluten from your child’s diet. Eating just a small amount of gluten can cause symptoms, while avoiding it altogether allows the intestine to heal and also stops further damage. When gluten is removed from the diet, the surface of the small intestine and its ability to absorb nutrients reverts to normal. After about a week or two, symptoms should go away.

Gluten is found in far more types of food than most people realize. Therefore, it is helpful to work with a dietician. He or she will help your child find alternate foods to ensure they are getting proper nutrients. A dietician or nutritionist can also offer education about how to properly read food and other product labels to look for gluten.

Taking supplements, including a multivitamin and a vitamin D supplement, might also be recommended. Additionally, your child should avoid other products that contain gluten, including specific herbal, vitamin, mineral, and nutritional supplements, as well as some prescription and over-the-counter medicines. Children with celiac disease should also be careful when handling products that contain gluten (and then touching their mouth). Such products may include Play-Doh, skin and hair products, toothpaste, mouthwash, and communion wafers. 

Our comprehensive, family-centered clinic offers medical and supportive care for children with celiac disease and other gluten-related disorders. Our pediatric gastroenterologists, nurse coordinators, and registered dieticians will each meet with children and their families at the initial visit. We also recommend that first-degree relatives have a genetic test and/or celiac blood testing to see if they have the disease as well.

Our dietician will evaluate your child and home environment for possible areas of cross-contamination, as well as talk with you about how to keep your child healthy. Our nurse coordinator will help arrange any necessary medical appointments or tests. We offer same-day appointments for children with both celiac disease and type 1 diabetes. “This is really convenient for families,” Dr. Porto adds. We also have referrals for local support groups and other resources that can be of help.

We follow children from the time of diagnosis and offer regular follow-up care until symptoms have resolved. Children and their families then have annual visits to ensure their treatment plan is working and that they are growing and developing normally.