Jilian Hunt’s second daughter, Maddie, was a typical, happy, healthy infant, until around 6 months when she started eating solid food. She became gassy and colicky and stopped sleeping through the night. “She would cry, and you could tell it was stomach pain,” Hunt said.
After a gastroenterologist suspected a bad case of reflux (a common condition in infants), Maddie, at 10 months old, had an endoscopy — a procedure that examines the digestive tract with a special camera — which ruled out that condition. Meanwhile, she learned to walk and talk on schedule, but fell off her growth chart and struggled to gain weight. At 3 — a skinny toddler with a round, distended belly — she received a second endoscopy with a different doctor to look for signs of other possible digestive diseases, but it produced inconclusive results. And by first grade, new symptoms emerged: dizziness, joint pain, headaches and vision problems.
One day, a friend told Hunt about her own daughter’s diagnosis with celiac disease, a hereditary condition in which the immune system aggressively attacks the intestinal lining in response to gluten — a protein found in wheat, rye and barley — and some nonfood products including certain medications, supplements and cosmetics. Typically, celiac causes gastrointestinal symptoms such as constipation, diarrhea and bloating. But it can also cause headaches and joint pain.
[Read actress Casey Wilson’s experience of navigating her son’s celiac disease diagnosis.]
“She had gone over some of the symptoms with me, and they were exactly what we were experiencing,” Hunt said. When Hunt asked Maddie’s pediatrician to test for celiac, the doctor balked; the gold standard for celiac diagnosis is an endoscopy, and Maddie, now 7, had already had two. “At that point I kind of demanded the test be done,” Hunt said. “I wasn’t going to leave until they tested her for celiac.”
Maddie’s blood eventually tested positive for a specific kind of antibody that’s produced by the immune system and that is associated with celiac disease, though her doctor was still skeptical, suggesting it was a false positive. Hunt, determined to get a diagnosis, made yet another gastroenterology appointment for Maddie to get a third and final endoscopy. That test confirmed that her daughter had celiac disease.
An often-overlooked condition
Celiac disease affects around 1 in 100 Americans. In the United States and Europe, about 1 in 200 children between ages 2.5 and 15 are diagnosed. More than 200 symptoms are associated with the condition, according to the Celiac Disease Foundation, with infants and children more likely to have digestive signs such as bloating, diarrhea, vomiting, constipation and abdominal pain, and adults more likely to experience anemia, fatigue, bone or joint pain, migraines and depression or anxiety.
But the condition is notoriously hard to diagnose. An estimated 60 percent of children and 41 percent of adults with celiac disease have no symptoms. And even when they do, research suggests that it takes four years, on average, for their illnesses to be identified. This delay not only prolongs their pain and discomfort, but can increase their risk for certain complications associated with the condition, including malnutrition, anemia, autoimmune conditions, neurological problems, osteoporosis and even certain cancers. Children with celiac disease are especially at risk for poor growth, foggy thinking and delays in puberty.
Some experts believe that the only way to get everyone with the condition diagnosed early is to screen all children for celiac disease when they’re young, regardless of whether they have symptoms or risk factors. But the current medical consensus is against universal screening.
That approach carries risks, said Dr. Marisa Stahl, M.D., a pediatric gastroenterologist at the Digestive Health Institute at Children’s Hospital Colorado in Denver. Kids can test positive for celiac without having symptoms, for instance, but there’s no scientific consensus on whether such children should be treated with a restrictive, gluten-free diet, which could affect the nutrients they receive and their quality of life. “It’s actually very controversial,” said Dr. Stahl.
The diagnosis dilemma
When people with celiac disease eat gluten, immune cells in their gut go into attack mode, producing antibodies and other molecules that cause inflammation. This, over time, can damage the intestines and block the absorption of nutrients.
In the simplest of terms, doctors diagnose the disease in three stages. First, they look for textbook symptoms such as abdominal pain, diarrhea, constipation and weight loss. Then, they do a blood test that scans for antibodies involved in the disease process, most often an antibody made against a protein called tissue transglutaminase, or TTG. If you test positive for the antibody and it’s at high enough levels, your doctor will likely then refer you to a gastroenterologist, who will perform an endoscopy and a biopsy — which involves taking small samples of bowel tissue to look for damage to structures called villi, which are tiny nubs of tissue that absorb nutrients from digested food. If the blood test and biopsy both indicate celiac disease, you have a definitive diagnosis and your doctor will probably instruct you to stop eating gluten, which should help you feel better.
But in many cases, diagnosis is much more complicated. First, symptoms can be ambiguous, ignored or even absent. “There is a large proportion of the population that has the disease without knowing it, either because they don’t have symptoms yet, or the symptoms are so vague they don’t pay attention to it,” said Dr. Alessio Fasano, M.D., director of the Center for Celiac Research and Treatment at Massachusetts General Hospital for Children in Boston.
Symptoms can take years to show up since, at first, only parts of the bowel may be affected and the rest may be compensating. In the meantime, you may assume that occasional stomachaches, gas or irregular bowel movements are normal, said Dr. Fasano. “But that could be the first sign that something’s going on.”
Early signs like these are even harder to nail down in kids. Some may only have rashes or joint pain, said Dr. Stahl. Or if they do have digestive symptoms, they may think they’re normal, and their parents may not be aware of them. “It can present in very minor ways like iron deficiency, headaches, tiredness, poor concentration, mild tummy pain and constipation,” said Dr. Justine Turner, M.D., a pediatric gastroenterologist at the University of Alberta in Edmonton, Canada.
Pediatricians may assume a child’s celiac symptoms stem from more common conditions such as reflux, viral infections or run-of-the-mill constipation, and may not think to screen them. “Sometimes doctors forget,” said Dr. Turner.
Even when symptoms lead to testing, false results can derail diagnoses further. An initially negative endoscopy, as happened in Maddie’s case, may lead doctors to rule out celiac disease too early.
More commonly, said Dr. Fasano, the antibody tests can be made unreliable when well-meaning parents who suspect celiac cut gluten from their child’s diet prematurely. Although the antibody test itself is accurate, the body stops producing TTG antibodies once gluten is removed from the diet.
Is universal screening worth it?
Experts agree that the current screening tools for celiac (the blood antibody test, endoscopy and biopsy) give a definitive diagnosis, and treatment for the condition (going gluten-free) is effective. But nobody knows whether screening everyone for it early in life is the best way to identify undiagnosed cases in children.
Current guidelines from the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition suggest that starting around age 3, kids should only be screened for celiac disease if they have certain risk factors, such as Type 1 diabetes or a close relative with the disease.
But because symptoms can be vague or families may not know if they have risk factors, some experts have argued that testing all kids for celiac antibodies is best. Dr. Marian Rewers, M.D., Ph.D., a pediatric endocrinologist at the University of Colorado School of Medicine and Stahl’s colleague, regularly sees patients who, in his mind, could have benefited from universal screening. One little girl was skinny with high blood sugar; another was in the 97th percentile for height and weight but had chronic vomiting; and another boy was overweight with psychological symptoms — all three turned out to have undiagnosed celiac disease.
“We want to prevent such stories,” said Dr. Rewers, who is convinced that universal screening is the right path. But, he said, while the evidence is clear that the screening tools and treatment are effective, there’s isn’t enough research yet to say whether such testing should be routine.
In 2017, a national panel of health experts reviewed the available data on the pros and cons of universal screening, and concluded that indeed, evidence was lacking to recommend it for everyone. It’s possible, for instance, that a child might test positive for TTG antibodies but not have symptoms, or that those antibodies might disappear as they grow up. In both cases, it’s unclear whether further, invasive testing and treatment is the right move.
Cutting foods containing wheat, rye and bran can limit your child’s access to healthful nutrients such as fiber; and many processed, gluten-free foods aren’t fortified with the same vitamins and minerals that gluten-containing foods are, said Dr. Turner, and tend to contain more sugars and fats to make up for their lack of flavor.
Going gluten-free can also be stressful for kids and parents — who both need to be mindful of what they eat at school, friends’ houses, birthday parties, restaurants, day care and even grandma and grandpa’s house. “It’s a much bigger commitment than just not having bread and pasta,” Dr. Stahl said.
To help settle the question of the merits of universal screening, Dr. Stahl and her colleagues are performing an ongoing study, where they’re following the health of hundreds of kids between 1 and 17 who tested positive for TTG antibodies. Dr. Stahl hopes her work will help clarify whether kids who have tested positive but who don’t have symptoms would benefit from further testing or treatment.
In the meantime, she typically advises young patients with a positive antibody test but no symptoms to continue to eat gluten. Then, she tests their antibody levels over time to see if they drop. “We would never recommend people just treating themselves based off of an antibody level,” she said. Doctors eventually need to confirm the diagnosis with other testing, such as a biopsy, before cutting gluten from a child’s diet.
What to do if you think your child may have celiac disease
Getting the correct diagnosis early can make a world of difference for your kids’ long-term health. Here are some pointers for how to recognize — and react — to a potential celiac disease diagnosis.
If your kid is high-risk, get her screened.
Having a first-degree relative with celiac disease can increase your risk of developing the disease. Current guidelines recommend that you start screening your child for TTG antibodies if they have immediate family members with celiac — or if they have other risk factors, such as Type 1 diabetes, autoimmune thyroid disease, Down syndrome or Williams syndrome — starting around 3.
If your child is high risk but doesn’t have symptoms, Dr. Stahl said her clinic recommends antibody screening every one to three years until your child is 18, and every five years after that. According to Dr. Stahl, most children who develop TTG antibodies will do so by age 10, but a person can develop the disease at any age.
Secure a diagnosis before going gluten-free.
If your child tests positive for TTG antibodies, a trip to a gastroenterologist and typically an endoscopy and biopsy are still needed for a bona fide diagnosis. In the interim, ask your child’s doctor to consult with a gastroenterologist about reducing, but not completely eliminating, gluten.
Trust your (and your kid’s) gut.
In the end, you are your child’s best advocate in the doctor’s office. If your child is always complaining about gastrointestinal issues such as constipation, bloating, pain or diarrhea, Dr. Turner recommended reminding your pediatrician to look out for celiac disease, even if it’s not the first thing that comes to mind.
In some cases, your child might test negative for celiac, but may still have a related but less severe digestive condition, such as non-celiac gluten sensitivity, which can cause similar symptoms as celiac disease, but does not produce the same antibodies and doesn’t lead to the same level of intestinal damage.
Amanda B. Keener is a science journalist based in Littleton, Colo., who has a background in immunology research.
Correction, Nov. 7, 2019: An earlier version of this article misspelled the name of the pediatric gastroenterologist in Colorado. It is Marisa Stahl, not Marissa Stahl.