Screening genetically susceptible infants can help detect celiac disease at a very early age

Physicians from the University of Colorado School of Medicine in collaboration with an international team of researchers have demonstrated that screening of genetically susceptible infants can lead to the diagnosis of celiac disease at a very early age.

The collaborative group studied 6,403 children with specific genetic markers from birth to identify the factors involved in the development of both celiac disease and type 1 diabetes. The children are from the United States, Finland, Germany and Sweden and are part of The Environmental Determinants of Diabetes in the Young (TEDDY) study. Interestingly, the study also found that Swedish residents had a higher risk for celiac disease than their European neighbors in Finland and Germany, and a nearly two-fold higher risk of celiac disease than their U.S. counterparts, despite sharing the same high-risk celiac genes.

Celiac disease is an autoimmune disease that damages the small intestine and interferes with absorption of nutrients from food. It can sometimes develop silently, leading to long-term medical complications if left untreated. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms.

The study is published in the July 3 issue of The New England Journal of Medicine. The research was funded by the NIH, the Juvenile Diabetes Research Foundation and Centers for Disease Control and Prevention.

Edwin Liu, MD, associate professor of pediatrics at the University of Colorado School of Medicine and lead author of the study, said the findings are significant because it will help determine when screening should begin in at-risk children. In addition, it 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," said Liu, who is the Taplin Endowed Chair for Celiac Disease and director of the Colorado Center for Celiac Disease at Children's Hospital Colorado.

Marian Rewers, MD, PhD, the principal investigator of TEDDY, and the late George Eisenbarth, MD, PhD, both from the Barbara Davis Center for Childhood Diabetes, are co-authors of the study. The senior author and leader of the Celiac Disease Committee within TEDDY is Daniel Agardh, MD, PhD, from Lund University in Sweden. Other contributors to the study are from the University of South Florida, the Pacific Northwest Diabetes Research Institute in Seattle, Ludwig-Maximilians-University in Germany, the University of Bristol in the United Kingdom, Dresden University in Germany, the University of Turku in Finland and members of the TEDDY Study Group.

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.

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