Is Mass Screening for Celiac Disease the Answer?

Many children with celiac disease remain undiagnosed, representing a "celiac iceberg," where diagnosed cases are the most visible, but so much more information lies beneath the surface.

Researchers at Children’s Hospital Colorado have searched far and wide to understand how programs across the world are effectively testing for celiac disease and the impact of undiagnosed celiac disease. Through their research, they’ve concluded that large scale testing could be very helpful in identifying undiagnosed individuals affected by celiac disease and could potentially help thousands of kids.

Many associate celiac disease with an upset stomach, but the symptoms of this autoimmune disease can range widely in scope and severity. The condition can lead to nutrient deficiencies and chronic health problems. Celiac disease can be so wide reaching and affect people in such different ways, that sometimes it’s hard to link the symptoms to the disease. Imagine a person feeling sick their entire life without knowing why — universal celiac testing could be the answer.

Learning from celiac disease research

The team, led by gastroenterologists Marisa Stahl, MD and Edwin Liu, MD, reviewed research articles to better understand the long-reaching effects of celiac disease and what others were doing to address them. They recently reviewed research examining iron deficiency in children with celiac disease. Celiac disease can damage the small intestine, which impairs absorption and leads to deficiencies in iron and vitamin D, among other micronutrients. Iron deficiency can cause anemia, fatigue, sleep disturbance and even unusual eating behaviors in children (such as pica). Of course, it is harder to address these symptoms if the child has not been diagnosed.

Mass screening for celiac disease and its potential impact

Researchers also submitted their opinion on mass screening for celiac disease in which they support large-scale celiac disease testing. This opinion was formed through international collaboration involving experts from England, Italy, Massachusetts and Colorado. The article discusses the intersection of primary prevention (preventing disease onset) and secondary prevention (early detection) of celiac disease through screening programs.

Primary prevention involves interventions in genetically predisposed children to prevent disease development. Secondary prevention focuses on early diagnosis before complications arise. Researchers argue that these prevention strategies should be integrated with mass screening programs identifying high-risk individuals who can be enrolled in prevention studies and monitored over time.

What does celiac disease screening involve?

Screening typically involves blood tests for celiac antibodies, which can be done with a blood draw or even a finger prick. Positive results require confirmation by a gastroenterologist, including secondary blood tests or sometimes an endoscopic assessment to look for any intestinal damage. However, not all individuals with positive initial tests pursue follow-up, because they feel they can self-treat by adopting a gluten-free diet, their symptoms are mild, or they face healthcare barriers such as cost and access. Self-treatment is clinically problematic because additional testing cannot be done once the patient is gluten-free and the gluten-free diet is a lifelong commitment.

Confirming an initial positive result is important because treatment is not always as simple adopting a gluten-free diet and sometimes people do this when it is not even necessary. Proper management involves support from skilled dietitians and psychologists to address the challenges that come with celiac disease treatment.

Learn about celiac disease through international collaboration

The research team believes that combining primary and secondary prevention with dietary and microbiome interventions is the future direction for celiac disease management. Through their outreach, Drs. Stahl and Liu collaborated with the team in Italy that helped create a nationally mandated pediatric screening program for celiac disease and Type 1 diabetes, marking a significant public health initiative. Collaborators in Boston are working with policymakers to implement a screening program in Massachusetts. Doctors in England also contributed expertise from allergy prevention studies, which may inform celiac disease prevention strategies.

Dr. Liu says there were three major things that pushed the team to undertake this work now:

• Italy passed a law to make screening mandatory. They screen for celiac disease and Type 1 diabetes together, which makes sense because they are both autoimmune diseases.
• New research showed that early intervention in both celiac disease and Type 1 diabetes can help patients avoid more serious complications.
• The team from Children’s Colorado now organizes an annual celiac disease screening symposium to gather global experts on mass screening to discuss issues and share ideas and experiences about different screening strategies.

Future research and next steps

This research adds to an existing body of work that has been leading celiac disease care at Children’s Colorado forward for years. Our Colorado Center for Celiac Disease has been leading innovative research programs aimed at improving early detection and understanding celiac disease in children. In collaboration with the Barbara Davis Center for Diabetes and national and international partners, researchers have worked to address major evidence gaps surrounding population-based screening, disease progression and long-term outcomes of children identified through screening programs.

One of its flagship initiatives is the Autoimmunity Screening for Kids (ASK) Study, a large-scale screening program offering free serologic testing for celiac disease and Type 1 diabetes to children ages 1 to 17 years. The ASK study has demonstrated that many children with celiac disease remain undiagnosed because they have few or no classic symptoms and no family history of celiac disease.

The Center also participates in The Environmental Determinants of Diabetes in the Young (TEDDY) Study, an international study investigating how environmental exposures and genetic risk factors contribute to the development of autoimmune diseases including celiac disease and Type 1 diabetes.

Looking ahead, investigators at the Colorado Center for Celiac Disease are pushing this work even further by collaborating with national and international partners to design primary prevention studies aimed at delaying or preventing celiac disease before symptoms develop. The next step for the team regarding mass screening will be to examine real world implementation studies like what is being done in Australia and Italy and what is being planned in Boston.