Children's Hospital Colorado

Children's Colorado Research Suggests Greater Need for Celiac Disease Screening in High-Risk Populations

Colorado Public Radio, New England Journal of Medicine | July 10, 2014

Researchers from Children's Hospital Colorado may be a step closer to diagnosing kids born with an increased risk for celiac disease, an autoimmune disorder that damages the small intestines. The disease is estimated to affect one in 100 people worldwide, according to the Celiac Disease Foundation.

Edwin Liu, MD, director of the Center for Celiac Disease at Children's Colorado, examines a patient.
Dr. Edwin Liu, director of the Center for Celiac Disease at Children's Colorado, says the benefits of detecting celiac disease early is that it can head off serious health problems later in life.


Physicians from Children's Colorado, in collaboration with an international team of researchers, studied more than 6,400 children with specific genetic markers from birth to identify factors involved in the development of both celiac disease and type 1 diabetes.

Researchers found certain gene combinations put people at risk for the disease and that signs of the condition can be detected at a very early age.

The children studied were from the United States, Finland, Germany and Sweden and are part of The Environmental Determinants of Diabetes in the Young (TEDDY) study.

Learn more about celiac disease.

Early detection is key

Edwin Liu, M.D., a pediatric gastroenterologist and director of the Center for Celiac Disease at Children's Colorado, lead authored the study and said the benefits of detecting celiac disease early is that it can head off serious health problems later in life.

“If [celiac disease] is left untreated, individuals can develop thin bones like osteoporosis, "Dr. Liu said in an interview with Colorado Public Radio. "They can have iron deficiency anemia, it can lead to infertility or miscarriages, and there’s actually a slightly increased risk of certain cancers of the small intestine."

Approximately 2.5 million Americans are undiagnosed with celiac disease and are at risk for long-term health complications, according to the Celiac Disease Foundation. The autoimmune disease damages the small intestine and interferes with absorption of nutrients from food.

Findings also showed that the risk of developing celiac disease is twice as high for Swedish children as for children in the United States, despite sharing the same high-risk celiac genes. Liu says that could be because of diet or antibiotic use.

Study raises more questions than answers

Liu said the findings from the study are significant because they will help determine when screening should begin for at-risk children. Currently, U.S. doctors recommend screening newborns at risk for celiac at the age of three.

In addition, the findings will allow the group to explore factors that may be causing Swedish children to develop celiac disease at a higher rate than other countries.

"The findings in this report set the stage for the study of complex relationships between genetic, environmental and gestational factors that may play a role in the development of celiac disease in early childhood," Liu said.

Liu says the findings raise more questions than answers, but he says researchers have made enormous progress in recent years toward understanding celiac disease.

“When I was in medical school, celiac disease was just a paragraph in a textbook,” he said. “Nowadays there are entire textbooks dedicated to the condition.”

About the study

Marian Rewers, M.D., PhD, the principal investigator of TEDDY (The Environmental Determinants of Diabetes in the Young), and the late George Eisenbarth, M.D., PhD, both from the Barbara Davis Center for Childhood Diabetes, are co-authors of the study. The primary goal of TEDDY is to find the causes of type 1 diabetes and celiac disease.

TEDDY has screened more than 425,000 infants who are at high risk for type 1 diabetes, eventually following the health of 8,677 children among more than 20,000 eligible to participate. Because the major genetic factors that confer risk for type 1 diabetes are shared by celiac disease, researchers are evaluating this group for development of celiac disease.

The study was published in the July 3 issue of The New England Journal of Medicine and can be found here. The research was funded by the National Institutes of Health, the Juvenile Diabetes Research Foundation and Centers for Disease Control and Prevention.