An alarmingly low rate of testing plus racial disparities revealed in data analysis
By Amy Ratner, director of scientific affairs
Isaiah was diagnosed with anemia and had been having stomach issues for five years. His doctors attributed his symptoms to stress and his diet. After he was finally diagnosed with celiac disease, he grew 12 inches and gained 30 pounds, reversing his previous slow growth.
His story of long delays in testing for celiac disease, told by his mother as part of Voices of Celiac, is not unusual.
Only 1 in 10 children with high risks symptoms and conditions are being tested for celiac disease, according to new research by Beyond Celiac and Weill Cornell Medicine.
Major medical societies’ guidelines that call for testing when a child has any of 22 conditions are not being adequately followed, concluded the study, published recently in the journal Digestive Diseases and Sciences.
This low rate of testing is “alarming,” the study says.
An analysis of private payer health insurance claims of nearly 224,000 children found that when compared to other children, non-Hispanic Black children were the least likely to be tested while non-Hispanic white children were the most likely.
The data analysis also found disparities in testing based on age, with children 11- to 20-years-old twice as likely to be tested compared to those 1- to 10-years-old.
The study findings highlight gaps in following testing guidelines, underscoring the need for improved awareness and implementation of screening practices, the study concludes.
The study is thought to be the largest assessment of celiac disease testing in US children.
“Diagnosing celiac disease is especially crucial in children,” the authors wrote, noting that when children go undiagnosed, they can suffer from anemia, bone fractures, short stature, stunting of growth and delayed puberty. “Moreover, a celiac disease diagnosis has been shown to improve health outcomes and quality of life in children including among those who were asymptomatic.”
Testing, also called screening, was lowest in Black children, at less than 7 percent. Only about 8 percent of Hispanic children, about 9 percent of Asian children, and about 12 percent of white children were screened.
Low adherence to testing guidelines found in this study may help explain the well-documented, years-long delays in diagnosis among children, the authors wrote.
Claims data showed the children most commonly had abdominal pain, chronic diarrhea, and unexplained weight loss. Although low rates of screening overall were found, white children were screened more often than Black children for all conditions.
Those with a family history of celiac disease, which is a recognized risk factor, were the most likely to be screened, followed by those with type 1 diabetes. However, when analyzed by race and ethnicity, about 70 percent of white children with family history were screened compared to about 38 percent of Black children. Racial disparity was also seen in children with type 1 diabetes, with white children more likely to be screened than Black children.
The study suggests that encouragement from family members about testing may account for higher screening in children who have relatives with celiac disease and encourages that the importance of family testing be shared with patients.
Children with both reoccurring abdominal pain and chronic diarrhea made up the highest proportion of those screened, compared to those with one or neither condition. This was mostly found in older children, with the study suggesting this may be due to their ability to describe gastrointestinal symptoms compared to younger children. In contrast, screening was lower for children with dental enamel defects, mouth ulcers, ataxia and iron deficiency.
When recurrent abdominal pain and chronic diarrhea were looked at separately, screening overall was low but lowest among Black children.
The fact that children who had chronic diarrhea were less likely to be tested than those who did not have diarrhea or recurrent abdominal pain was surprising, the study says, because diarrhea is often thought of as a classic symptom of celiac disease. “However, children often have many causes for diarrhea and so pediatric providers maybe less inclined to test for celiac disease in children with diarrhea only,” the authors wrote.
In fact, guidelines from the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN), the leading professional organization for pediatric gastroenterologists in the United States, do not recommend testing when children have chronic diarrhea alone.
The data analysis was based on private health insurance payer claims from the United States from 2007 to 2022. It included children up to 20 years old. Children who had had one of the antibody blood tests for celiac disease were considered to have been screened.
The results of celiac disease blood tests were reported in claims data by about 530 children. Of those, about 78 percent were positive.
Since testing for celiac disease is uncommon even when warranted, the study calls for further consideration of either universal screening in the United States or additional strategies to improve the following of guidelines. All children, regardless of risk, would be tested for celiac disease under universal screening.
NASPGHAN guidelines have been in place since 2005, which preceded the study start date. They pointed to mandated universal screening it Italy, which is the first country to require it, prompted by an Italian study that estimated 60 percent of children with celiac disease are undiagnosed.
Similarly, the ongoing Colorado-based Autoimmunity Screening for Kids (ASK) estimated that nearly 2 percent of all screened children have celiac disease, the study says. Also, a recent analysis found the universal screening among children in the Netherlands improved health outcomes and was cost effective.
The reasons for lower screening rates for Non-white children in the study are not clear, but the discrepancy suggests that healthcare providers may hold preconceived notions about which patients should be tested, the authors wrote. “Addressing these disparities requires targeted efforts to improve awareness, access and adherence to diagnostic guidelines among both patients and providers,” the study says.
It points to previous studies that have found that economic and social factors may significantly influence celiac disease diagnosis, with biases surrounding race and ethnicity that may play a role. For example, Black adults are less likely to have the biopsy that is key to diagnosis. They are also less likely to receive appropriate evaluations for celiac disease when they have iron deficiency anemia or chronic diarrhea.
“These studies point to potential biases in how providers asses the pre-test probability of celiac disease in Black patients, which may contribute to lower screening rates and delayed diagnosis in this population,” the study says.
In addition to the size of the study, strengths include the diverse group of children in the data from across the United States spanning 15 years.
Limitations include the potential for incomplete reporting of codes used in private payer claims. Also, children who are uninsured or covered by public programs were excluded, which limits generalization to the whole US population.
Also, specific year data was not available, making it impossible to assess whether adherence to guidelines improved over time.
You can read more about the study here.
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