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Last September, the Italian Parliament approved a landmark decision to implement national screening for celiac disease in children aged 1-17 years. This initiative follows the publication of groundbreaking findings from a screening trial led by Professor Carlo Catassi of Marche Polytechnic University. The study, which involved screening children aged 5-11 years across six cities, revealed a celiac disease prevalence of 1.65% in nearly 4500 children—significantly higher than previously estimated.
Celiac disease, a chronic autoimmune disorder, affects approximately 1 in 70 people worldwide, with notable geographical differences. Traditional diagnostic approaches in Europe involve case-finding, where general practitioners identify potential cases based on symptoms, family history, and autoimmune conditions. While this method has improved diagnosis rates, many cases remain undetected without proactive screening policies.
Professor Catassi emphasized the importance of population screening to uncover undiagnosed cases and better understand the true burden of celiac disease. “Even in a country with a good healthcare system like Italy, a high percentage of cases remain undiagnosed,” Catassi told Medscape Medical News. The multicenter study found that only 40% of children with celiac disease had been diagnosed prior to the trial, highlighting that 60% of cases were undetected without mass screening.
The debate over celiac disease screening has spanned nearly three decades. In 1996, Catassi conducted Italy’s first large-scale screening study, which revealed that for every diagnosed case, there were seven undiagnosed cases. David Sanders, Professor of Gastroenterology at the University of Sheffield, noted a similar situation in the UK during the 1990s. Although increased awareness has improved diagnosis rates, two-thirds of cases remain undiagnosed, posing risks for untreated complications.
Critics of population-wide screening cite concerns about false positives from serologic tests. However, a 2021 study by Catassi’s team demonstrated that anti-tissue transglutaminase immunoglobulin A (anti-tTG IgA) tests are highly reliable for diagnosing celiac disease in children, with a sensitivity of 93% and specificity of 98%. “We didn’t have a single case of false positive. If anything, the problem might be with false negatives,” Catassi said. He suggested that children with a genetic predisposition but negative serologic tests should be re-evaluated later in life if symptoms arise.
Another argument against screening is the potential for diagnosing asymptomatic individuals who might not benefit from a gluten-free diet. Sanders expressed concerns about turning healthy individuals into patients without clear evidence of improved health outcomes. However, evidence indicates that undiagnosed celiac disease can lead to serious health issues, and studies from Norway suggest that undiagnosed individuals often see quality-of-life improvements on a gluten-free diet.
In 2017, the US Preventive Services Task Force found insufficient evidence to assess the benefits and harms of celiac disease screening. Wanda Nicholson, chair of the Task Force, highlighted the need for more research comparing outcomes of screened versus unscreened individuals and the impact of gluten-free diets on those diagnosed. “The Italian program could provide valuable insights into these questions,” she noted.
Despite some reservations, Sanders welcomed the Italian initiative. “I’m very glad that somebody is doing this on a country-wide basis because it will inform all the rest of us about future policy,” he said.
Professor Catassi expressed optimism about the program while acknowledging the need for ongoing evaluation. “We are very much excited about the program. But we will evaluate the results and decide in a few years if this needs to be done forever or changes need to be made,” he said.
The Italian Parliament’s decision marks a significant step in addressing the widespread underdiagnosis of celiac disease, potentially setting a precedent for other countries to follow.
