How mass screening efforts have helped identify more cases of celiac disease in children

By Benedette Cuffari, M.Sc.Jun 4 2021Reviewed by Emily Henderson, B.Sc.

A new mass screening program of school-aged children in Italy found that the overall prevalence of celiac disease has almost doubled in the past 25 years.

Celiac Disease Infographic. Image Credit: ESPGHAN

Celiac disease in children

Celiac disease is an autoimmune disease that causes significant damage to the small intestine of patients following their ingestion of gluten. More specifically, gluten, which is a protein that is commonly found in wheat, rye, and barley, will initiate an immune response in the small intestine of patients with celiac disease. This immune response often causes damage to the villi of the small intestine, which are small fingerlike projections that are essential for nutrient absorption.

Celiac disease can develop in individuals at any point in their lives. In children, symptoms of celiac disease can arise as early as 6-9 months of age, which is typically when gluten-containing foods are initially introduced into the diet. Whereas some children will become sick from their celiac disease early in life, others might begin to experience symptoms after several years of exposure. As celiac disease is a genetic condition, individuals with a family history have a 1 in 10 risk of also developing the condition.  

The recent rise in celiac disease cases

At the 6^th World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition conference, a group of Italian researchers led by Dr. Elena Lionetti discussed their findings of an increased prevalence of celiac disease in school-aged children. To arrive at this conclusion, Lionetti and her colleagues screened a total of 7,760 children between the ages of five to eleven in eight different provinces throughout Italy.

This study, which is being conducted as part of the CELI SCREEN multi-center clinical trial, found that the overall prevalence of celiac disease was about 1.6%, which is much higher than the estimated 1% of the population that was previously believed to be affected by the condition. This mass screening of study participants involved a finger-tip blood test that was used to confirm the presence of Human Leukocyte Antigens (HLA) gene mutations that predispose the child to celiac disease.

If the child was found to test positive for the HLA mutations, a subsequent serological diagnosis of celiac disease was conducted. This second test measured the levels of deamidated gliadin protein epitopes (DGP) and tissue transglutaminase (tTG) antibodies in the blood to support a diagnosis of celiac disease.

Improving the early diagnosis of celiac disease

Current estimates indicate that up to 70% of individuals with celiac disease are going undiagnosed. This is largely due to the fact that many people with celiac disease will experience relatively mild symptoms of the disease such as abdominal pain, bloating, and diarrhea.

However, if left untreated, celiac disease can increase an individual’s risk of developing other autoimmune diseases like dermatitis herpetiformis, anemia, osteoporosis, infertility, multiple sclerosis, and Type 1 diabetes.

The findings of the CELI SCREEN study demonstrate that a significantly greater number of celiac disease cases can be diagnosed at an early stage through non-invasive methods. In addition to reducing the risk of developing many other autoimmune conditions in the future, an early diagnosis of celiac disease can also prevent damage to the villi and help avoid unnecessary suffering by a condition that can be difficult to diagnose in the clinical setting.

An additional finding of the current study is that the prevalence of celiac disease in Europe is rising, despite the fact that a majority of these cases remain undiagnosed. The incorporation of this type of mass screening program throughout Europe, particularly in school-age children, could therefore improve the quality of life of many individuals who have not yet been diagnosed with celiac disease.

Although there is no cure for celiac disease, a strict gluten-free diet is an effective treatment that can virtually eliminate many of the difficult symptoms that are often associated with this condition.