Diagnosing Celiac Disease in Children

NYU Langone pediatric gastroenterologists, nurse practitioners, social workers, and registered dietitians work together through our Pediatric Gastroenterology Program and are dedicated to diagnosing celiac disease, an autoimmune condition characterized by intolerance to gluten, a group of proteins found in the grains wheat, barley, and rye. After someone with celiac disease eats foods that contain gluten, the body’s immune systems produces autoantibodies, a type of antibody, or protein, that attacks the body’s tissues instead of focusing on harmful substances, such as viruses and bacteria. These antibodies target an enzyme produced in the small intestine called tissue transglutaminase.

Over time, this autoimmune response causes inflammation and progressive damage of the villi—microscopic, finger-like projections that absorb nutrients in the intestine. This can interfere with the absorption of nutrients, such as vitamin D and iron, which are essential to a child’s growth and development.

Sometimes symptoms of celiac disease appear soon after an infant begins eating cereal. In other children, the condition may not cause noticeable symptoms and only becomes apparent when the poor absorption of nutrients interferes with a child’s bone health and the production of red blood cells, which carry oxygen throughout the body. Over time, these problems can lead to slower-than-average growth, delayed puberty, and a lack of energy.

For the majority of children, the most noticeable symptoms of celiac disease are digestive problems, such as oily, bulky, or foul-smelling stools. Intestinal inflammation can interfere with a child’s ability to digest lactose, the sugar found in milk and other dairy products, causing gassiness, abdominal bloating, and stomach cramps.

Some children with celiac disease experience striking behavioral and mental changes, including a loss of mental clarity called “brain fog” that seems to clear up as soon as a child is placed on a gluten-free diet.

The cause of celiac disease is unknown, but evidence suggests that genetic factors may increase a child’s risk of developing it. Those who have a parent or sibling with celiac disease are more likely to develop this condition. Nearly all children with celiac disease have inherited either the DQ2 or DQ8 type of human leukocyte antigen, or HLA—a protein found in lymphocytes, a type of white blood cell, that helps the body to distinguish between its own and foreign tissue.

Celiac disease is more common in children with other autoimmune conditions, such as type 1 diabetes and autoimmune thyroid disorder. People who do not have enough of an antibody known as immunoglobulin A, a protein that helps to fight infections, often develop celiac disease and other autoimmune conditions. Children with certain genetic syndromes, such as Down syndrome, also have a higher risk of developing celiac disease.

Doctors at Hassenfeld Children’s Hospital at NYU Langone perform blood tests to screen for celiac disease in children who have symptoms, especially if they have risk factors for the condition. Additional tests are used to confirm a diagnosis.

Physical Exam

During a physical exam, the doctor reviews all relevant information from your child’s medical history, including whether you have a family history of celiac disease or other autoimmune conditions. The doctor also performs a detailed physical examination that includes measuring your child’s height and weight to determine if he or she is growing normally, feeling the abdomen to see if it is swollen, and checking the skin and teeth to look for signs of nutrient deficiencies.

Blood Tests

NYU Langone doctors perform tests to look for certain antibodies in your child’s blood that suggest his or her body is mounting an autoimmune response to gluten. Doctors recommend this testing when a child has signs and symptoms of celiac disease or a family history of celiac disease or other autoimmune conditions. They also recommend testing children with Down syndrome for celiac disease.

One type of blood test detects antibodies that target an enzyme found in the small intestine called tissue transglutaminase. Another blood test, which is more sensitive and more specific than the test for tissue transglutaminase antibodies, may be used to see if your child’s body is producing endomysial antibodies.

If the diagnosis is not clear, your child is already on a gluten-free diet, or the doctor is seeking to rule out other causes of your child’s symptoms, he or she may perform blood tests to determine if your child has either the DQ2 or DQ8 HLA type. Nearly all children with celiac disease have either one of these HLA types.

In addition, blood tests can help the doctor to determine if your child has enough of the nutrients that are essential for growth and development, such as vitamin D, vitamin B12, folic acid, and iron. Blood tests may also be used to look for antibodies that attack the thyroid, which are common in children with autoimmune conditions, such as celiac disease.

Upper Gastrointestinal Endoscopy

Your child’s doctor also performs an upper gastrointestinal endoscopy, an outpatient procedure used to confirm a diagnosis of celiac disease. First, a pediatric anesthesiologist administers a sedative to ensure that your child is comfortable during the procedure. After your child is asleep, the doctor inserts an endoscope—a flexible tube with a digital sensor attached to it—through the mouth, esophagus, and stomach and into the first part of the small intestine.

The endoscope allows the doctor to inspect the lining of the small intestine and to obtain tissue samples, called biopsies. These samples are examined under a microscope to look for inflammation and damage to the villi, which are the hallmarks of celiac disease. The endoscopy procedure lasts about 20 minutes, and our doctors take every precaution to ensure that it causes as little discomfort and stress as possible.

Biopsy results are usually available in a few days. NYU Langone doctors share these with you as soon as they are available and use them to plan your child’s treatment.

Non-Celiac Gluten Sensitivity

Some children and adolescents who have gastrointestinal symptoms and other problems—such as unexplained fatigue, sore muscles, stomach bloating, and “brain fog” after eating foods that contain gluten—may not show evidence of intestinal damage or tissue transglutaminase antibodies in the blood during diagnostic tests. These children do not have celiac disease but may have a condition known as non-celiac gluten sensitivity.

Currently, the cause of this condition is unknown, and there is no proven method of diagnosing and managing it other than avoiding gluten and seeing if symptoms disappear. NYU Langone doctors can discuss whether this approach may help your child.