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Celiac disease is an autoimmune disorder that causes injury to the small intestine. The disease is triggered when children with a certain genetic profile eat dietary gluten, a protein found in wheat, rye and barley. People aren’t born with celiac disease, but they might be born with the genes that put them at risk for getting it. Eating gluten could cause celiac disease, and removing all gluten from your diet will allow the intestines to heal and improve symptoms.
We test for celiac disease with a blood test (called a tissue transglutaminase autoantibody test) and confirm the diagnosis with biopsies of the small intestine. During the biopsy your child will be asleep to prevent pain. Surgeons will use a small camera that guides them as they take small samples of tissue for the intestine to examine under a microscope. It is estimated that about 1 in every 100 individuals could have celiac disease, but many remain undiagnosed.
Two genes have been identified that put children at high risk for celiac disease, HLA-DQ2 and DQ8. Both genes are actually common, with about 40% of the population in Denver having one of the genes. However, only a subset of individuals with these genes will go on to develop celiac disease over time if they eat a regular gluten-containing diet. In someone with celiac disease, continuing to eat gluten will cause ongoing intestinal injury and symptoms, but no one really knows what triggers the autoimmune process that makes them sensitive to gluten in the first place.
Since the genes are so common in the general population, many people are actually at risk of developing celiac disease. However, individuals with type 1 diabetes, autoimmune thyroid disease and first-degree relatives of someone with celiac disease are specifically at risk. People with these risk factors should be screened for celiac disease. There are other groups at risk, such as people with Down syndrome or selective IgA deficiency.
The Children’s Digestive Health and Nutrition Foundation provides information about celiac disease and gluten-free diets for patients and their families.
The symptoms for celiac disease are different for different people. Some children may grow poorly and can be very sick with vomiting, diarrhea, abdominal pain and irritability. Other children, particularly those being screened due to a genetic risk, may have minimal symptoms and would likely not have gone to the doctor. Others may have progressive bone thinning or iron deficiency that may not become apparent until adulthood.
Because celiac disease is an autoimmune disorder, doctors most often begin testing for it with an autoantibody test performed at the hospital or at an on-campus laboratory. The test looks for autoantibodies in a blood sample. We use it to see if children have the disease, to aid in diagnosis and to monitor the treatment of celiac disease.
If the blood test is positive and suggests celiac disease, then we may talk with patients about upper intestinal endoscopies to get biopsies of the small intestine to diagnose celiac disease and evaluate the degree of injury it has caused to the intestines.
During this test, a tiny camera is inserted through a child's mouth, through their stomach and into the small intestine. A surgeon then takes a small amount of tissue from the small intestine so it can be examined under microscope. We perform endoscopies under general anesthesia in our procedure suite.
Finally, there is also a genetic test that can be performed to see if you have one of the genes that will put you at risk for celiac disease. Remember that these genes are very common, so the presence of these genes doesn't mean that you have celiac disease or that you will get it. Having the genes only means that you are at risk for celiac disease. However, if a child doesn't have one of these celiac risk genes, it is very unlikely he or she will have celiac disease.
When screening and monitoring for celiac disease, it is very important to understand the type of test being performed and its limitations. We are very familiar with our tests, which helps us gauge the likelihood of having celiac disease based on a positive test. Having a positive autoantibody test doesn't necessarily mean that you have celiac disease, but it does make it more likely. We also have access to one of the most sensitive tests in the world for celiac disease, which can be used in cases that are hard to diagnose.
If we feel that someone could have celiac disease, we first use a blood test to detect an autoantibody called the tissue transglutaminase autoantibody test. It takes about one week to get the results. If the test is positive and suggests celiac disease, then we may talk with patients about upper intestinal endoscopy to get biopsies of the small intestine to confirm celiac disease.
There is no cure for celiac disease at this time, so treatments focus on controlling the disease through diet to stop damage to the intestines.
Children with celiac disease must adopt a gluten-free diet. A registered dietitian will help your family learn about this style of diet, which can sometimes be difficult for kids. Children may also be tested periodically with a blood test to make sure they are absorbing enough nutrition through their intestines and are not anemic. Your child's primary care doctor will pay special attention to your child's growth and development.
At the Colorado Center for Celiac Disease at Children's Hospital Colorado, we are experts at diagnosing and treating newly discovered celiac disease, following patients who have lived with the condition and screening relatives of our patients to make sure they know their celiac status. We can provide all the needed testing for you and your families including autoantibody testing, genetic screening and biopsy.
Our celiac disease class, led by a skilled dietitian, provides resources for starting and living a gluten-free lifestyle. We offer continuing classes for families and patients with celiac disease and many have found a support system through our center. We also help teach other physicians about celiac disease.
At Children's Colorado your child may have the opportunity to participate in a research study related to celiac disease. Our current research at Children's Colorado involves evaluating potential small molecule inhibitors of HLA-DQ2 and DQ8, the genes involved in celiac disease and associated autoimmune disease. We are also involved in a multi-center study about the potential development and triggers of celiac disease in children born with a genetic risk. These research efforts help us understand the history of this condition as it develops from birth into adulthood.
Gastroenterology - Pediatric
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Gastroenterology - Pediatric, Pediatrics