Evaluating Nationwide Celiac Disease Screening: Italy's Bold Initiative and Its Potential Impact

Celiac.com 06/24/2024 - Celiac disease is a common chronic autoimmune disorder that affects approximately 1 in 70 people worldwide. This condition results in damage to the small intestine when gluten is ingested. Traditionally, European countries use a case-finding approach, where general practitioners look for celiac symptoms, including family history and a history of autoimmune diseases to diagnose celiac disease. Despite this, many cases remain undiagnosed, prompting discussions about the potential benefits of population-wide screening.

Italy's Screening Initiative

In September, the Italian Parliament approved a national screening program for celiac disease in children aged 1-17 years. This decision followed a trial led by Professor Carlo Catassi of Marche Polytechnic University, which screened children aged 5-11 years in six Italian cities. The study found a prevalence of 1.65%, meaning nearly 1 in every 60 children had celiac disease, a rate higher than expected. Importantly, only 40% of these children were diagnosed before the trial, indicating that 60% of cases remain undiagnosed without mass screening.

The Debate on Screening for Celiac Disease

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The idea of screening for celiac disease has been debated for nearly 30 years. In 1996, Catassi carried out the first large-scale celiac screening study in Italy, finding that for each diagnosed case, there were about seven undiagnosed cases. David Sanders, a professor of gastroenterology, noted similar situations in the UK during the 1990s. Increased awareness among doctors has improved diagnostic rates, but at least two-thirds of celiac cases remain undiagnosed, posing risks for complications like infertility, anemia, and osteoporosis.

Some argue that individuals with minimal symptoms may not need to be aware of their condition, but Catassi believes early diagnosis is crucial to prevent serious health issues over time.

Arguments for and Against Population-Wide Screening

One major argument opposing population-wide screening is the potential for false positives. However, a 2021 study by Catassi showed that anti-tissue transglutaminase immunoglobulin A tests are highly reliable, with a sensitivity in children of 93% and specificity of 98% at diagnosing celiac disease. In this study, there were no false positives, although 2%-3% of people with celiac disease could have false negatives due to IgA deficiency. Genetic markers can help identify individuals at risk who may initially test negative.

Another concern is that healthy individuals diagnosed through screening might undergo unnecessary dietary restrictions. However, evidence suggests that untreated celiac disease can lead to long-term health issues, and population-based screening in Norway showed that most undiagnosed individuals improved their quality of life on a gluten-free diet.

Building the Evidence

In 2017, the US Preventive Services Task Force looked at the evidence and found it insufficient to assess the benefits and harms of screening for celiac disease. Wanda Nicholson, the current chair of the task force, emphasized the need for more studies comparing outcomes of screened versus unscreened individuals and the impact of gluten-free diets among those who test positive. The Italian screening program will hopefully provide valuable insights into such questions.

Catassi has argued that the overall benefits of early diagnosis will outweigh any drawbacks of screening, though he acknowledged the need to evaluate the program's results over time. Despite concerns about participation and cost-effectiveness, Sanders welcomed Italy's initiative as it could inform future policies globally.

Conclusion

Italy's decision to implement nationwide screening for celiac disease in children is a significant step towards understanding and managing this autoimmune disorder. The findings from this program could highlight the true prevalence of celiac disease and the benefits of early diagnosis. For those with celiac disease, especially undiagnosed cases, this screening could prevent serious health complications and improve quality of life. While further research is needed to validate the effectiveness and practicality of such screenings, Italy's program could pave the way for similar initiatives worldwide, offering hope to many affected by this chronic condition.

Read more: medscape.com