Symptoms and family history not enough to determine which children have celiac disease
By Amy Ratner, Director Scientific Affairs
Universal screening may be the only way to identify all the children in the United States who have celiac disease, a recent study of nearly 10,000 children in Colorado concludes.
The study by researchers at University of Colorado also found that symptoms were not reliable predictors of which children would have celiac disease. And most children who had positive antibody screening did not have a family history of celiac disease. Screening is testing for health conditions and diseases when there are no risk factor, signs or symptoms.
About 70 percent of children identified through screening did not have symptoms and about 90 percent did not have a family history.
“Screening based only on risk factors such as symptoms or family history will miss most cases,” the study, published in the American Journal of Gastroenterology, says.
The investigation by lead study author Marisa Stahl, MD, assistant professor of pediatrics at the University of Colorado School of Medicine, and colleagues was part of the Autoimmunity Screening for Kids (ASK) study, large scale testing for celiac disease and type 1 diabetes among children in Colorado. Children are screened for both type 1 diabetes and celiac disease, two conditions that have been linked, though this study reports only on celiac disease.
Of the children screened between January 2017 and July 2018, 242 or 2.4 percent, had an initial positive celiac disease test. Of the 185 children who returned for follow-up, 149 had a positive confirming test.
“Although classic gastrointestinal symptoms…commonly prompt evaluating for celiac disease, the nonclassical and subclinical presentations are often overlooked,” the study authors wrote. In fact, they note, more than half of those with celiac disease may have no symptoms and not be identified by current recommendations for screening through blood tests for celiac disease.
But widespread testing of people with no symptoms is controversial, in part because the benefit of diagnosis is not as clear as it is in people who do have symptoms. Particularly, long-term consequences in terms of morbidity are largely unknown. While untreated, asymptomatic celiac disease may affect growth and bone health, the risk of morbidity has to be balanced with the cost of screening and the burden of the gluten-free diet.
“Universal screening seems to be the only way to detect all cases of celiac disease and has the potential to reduce diagnostic delay and associated morbidity,” study authors wrote.
In 2017, the U. S. Preventative Services Task Force concluded there is insufficient evidence to assess the balance of benefits and harms of screening for celiac disease in those who do not have symptoms. The task force is a panel of experts in disease prevention that works to improve the health of Americans by making evidence-based recommendations about clinical preventive services.
“ASK aims for the eventual implementation of a mass autoimmune screening program that would be feasible in the primary care setting,” the study says. “In this initial report, we find a high prevalence of undiagnosed celiac disease autoimmunity in a screened U.S. population.”
The ASK study is designed to address several of the concerns about celiac disease screening of those who don’t have symptoms, the study authors wrote. “Further follow-up of children diagnosed with celiac disease through ASK – children who were not recognized as symptomatic by their families or healthcare providers – will allow us to study the potential benefits and harms of mass screening.”
Follow-up at the Colorado Center for Celiac Disease assesses symptoms, laboratory test abnormalities, growth, quality of life, anxiety and depression to evaluate benefits and burdens.
Children diagnosed with celiac disease after having been identified through ASK will be followed up by Stahl over about two years to evaluate the impact of celiac disease on the health and quality of life of children who are identified through a mass screening program. Since these children have no obvious symptoms of celiac disease, they would be unlikely to be diagnosed otherwise. That work is being funded through the Beyond Celiac Early Career Grant.
In addition to consequences for patients, diagnosis of celiac disease through screening has implications for the healthcare system. Costs of unrecognized celiac disease can include prescription drugs, primary healthcare visits and missed days of school.
You can read more about the study here.