Study provides evidence of the benefit of celiac disease screening in the general population
By Amy Ratner, director of scientific affairs
Children who most likely would not have been diagnosed with celiac disease had they not been randomly screened for the condition showed important health-related improvements after diagnosis and one year on the gluten-free diet.
Symptoms, iron levels and quality of life improved for children in the study by researchers from the University of Colorado and Children’s Hospital Colorado. The study results provide evidence that diagnosis and treatment of celiac disease through a mass screening program is beneficial to children who don’t show signs or have risk factors.
Beyond Celiac funded the research through an Early Career Investigator Grant awarded to Marisa Stahl, MD, of Children’s Hospital Colorado. The study was recently published online by the journal Clinical Gastroenterology and Hepatology.
Children who participated in the study also did a good job sticking to the gluten-free diet, and most did not report an increase in anxiety or depression after having been diagnosed and going on the diet.
The study is the first in the United States to show improvement in children with celiac disease who were identified through screening, the study says. “Several European studies have suggested a benefit to diagnosing and treating screening-identified, asymptomatic individuals,” the authors wrote. “No such studies have been conducted in the United States.”
Stahl and colleagues investigated how being diagnosed through screening affects children to determine if there is evidence to support broad testing for celiac disease in the general population. “Despite increasing prevalence and often delayed diagnosis, mass screening for celiac disease remains controversial,” the study says.
The U.S. Preventative Services Task Force in 2017 concluded there is not enough evidence for it to recommend screening for celiac disease in those who do not have symptoms. The task force noted there is a lack of North American studies on the risks and benefits. 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 routine screenings, check-ups and patient counseling to prevent illnesses, diseases, or other health problems.
Since the task force decision, Stahl and colleagues have done several studies to better understand how screening can help improve diagnosis and treatment of celiac disease. Although about 1 percent of the general population has the condition, it’s estimated that 50 to 80 percent of those with celiac disease remain undiagnosed. And in some places in the United States those numbers may be even higher as researchers from the University of Colorado have previously found more than 2 percent of children randomly screened have undiagnosed celiac disease autoimmunity. Celiac disease autoimmunity is determined by positive results on blood tests for celiac disease.
The screening is done as part of the Autoimmunity Screening for Kids (ASK) study, which tests children for type 1 diabetes and celiac disease to determine the benefits and cost-effectiveness of screening. The screening is done as part of routine healthcare in doctors’ offices and clinics of Children’s Hospital Colorado and Denver Health networks. Children in celiac disease study were seen at the Colorado Center for Celiac Disease between January 2019 and March 2022.
Currently, the North American Society for Pediatric Gastroenterology, Hepatology & Nutrition recommends screening for children who have symptoms including abdominal pain, diarrhea and constipation or are at risk because they have parents or siblings with celiac disease or have type 1 diabetes and other autoimmune conditions.
In their investigation of celiac disease, researchers compared clinical data, health-related quality of life and demographics at the start of the study to results after the children had been on the gluten-free diet for one year.
Fifty-two children who were screened through ASK and found to have celiac disease participated in the study. Forty-two children remained in the study for a one-year follow up.
The screening was based on the anti-tissue transglutaminase (TTG) blood test for celiac disease. Those whose test result was positive were then diagnosed through a biopsy or by meeting criteria including very high TTG levels.
Children and their parents were asked to fill out a questionnaire about seven gastrointestinal symptoms prior to the screening. Of the 42 children who completed follow-up, 29 reported having none of these symptoms. But later, on a more extensive questionnaire that also included symptoms that were not gastrointestinal, 38 of 42 indicated they had one or more symptoms.
After one year on the gluten-free diet, 30 of the 38 children reported improvement in one or more symptoms by frequency or severity, the study says. Joint pain, headaches, brain fog, gassiness, low energy, irritability, vomiting, constipation, abdominal pain and diarrhea all occurred less frequently at a significant level. Likewise, joint pain, headache, itchiness, low energy, irritability, constipation, abdominal pain and diarrhea were less severe at a significant level.
Additionally, at 12 months, 93 percent of families reported good to excellent adherence to the gluten-free diet.
Although low ferritin, the blood protein that contains iron, was found in nearly 88 percent of the children tested at the time of diagnosis, levels improved in more than half of them at the one-year follow-up.
Caregivers reported that the children had significant improvement in health-related quality of life overall, including physical, emotional and school functioning. This is the first pediatric study to show this kind of improvement in the United States, the authors note.
They point out that social functioning declined with the gluten-free diet for ten caregivers and seven children in the study. “This could reflect the difficulty of the gluten-free diet in social settings, the availability and expense of gluten-free products and social support networks,” the study says. “These are surmountable barriers for which policy could greatly improve the quality of life for individuals with celiac disease more broadly,” the authors wrote.
Neither anxiety nor depression in the children increased, something that is often pointed to as a concern if asymptomatic children are screened and diagnosed. The worry is that the gluten-free diet, with restrictions on food and the limitations the diet can create in social situations, can cause anxiety and depression. The study did not find that to be the case.
The impact of celiac disease diagnosis and the gluten-free diet did not impact the physical, emotional, social or cognitive functioning of the 39 caregivers who responded to questions about psychosocial measures. No significant impact was felt in the family’s daily activities or relationships within the family.
Researchers noted that children who were diagnosed with celiac disease but did not complete the study were more likely to be teenagers rather than younger children, male, non-white, from a household with an income of less than $100,000 per year and having public health insurance or no health insurance.
The loss of screened children to diagnosis and follow-up was noted as a study limitation. One consequence is the risk of bias in the study because children who benefited most from screening and treatment may have been more likely to complete follow up.
“In our study, minority children and those of lower socioeconomic status were more likely to be lost to follow up,” the authors wrote. “However, this should not detract from the overall finding that a majority of children who did complete follow-up improved after screening and treatment.”
Healthcare disparities based on race, ethnicity and socioeconomic factors are increasingly being recognized in the diagnosis and treatment of celiac disease.
The COVID-19 pandemic also created limitations, including reduced ability to measure height, weight, body mass index and more. The pandemic also made it more difficult to get blood test measurements.
“The COVID-19 pandemic may have also had unmeasurable impacts in symptoms, health related quality of life and mental health, which unfortunately cannot be accounted for in our analysis,” the study says.
While this research demonstrates there may be a benefit to celiac disease mass screening, more studies are needed to determine the most cost-effective approach to mass screening. Additional investigation is also needed to evaluate how mass screening compares to the current method of targeting those who have symptoms or risk factors including family history before policy changes can be considered in support of celiac disease mass screening, the study concludes.
Results of the study were preliminarily presented at Digestive Disease Week in 2023. In addition to Beyond Celiac, funding was also provided by the Juvenile Diabetes Research Foundation and the Helmsley Charitable Trust.
You can read more about the study here.
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