The 'Celiac Iceberg' and Diagnostic Awareness
Celiac disease is often referred to as an 'iceberg' because a large proportion of cases remain undiagnosed. Italy has a high level of public and medical awareness, aided by organizations like the Italian Celiac Association (AIC), which helps improve recognition of symptoms. Advanced screening methods and a national screening law for children actively identify more cases than in many other countries.
The Impact of Nationwide Screening Programs
Italy implemented a law in September 2024 requiring nationwide screening for celiac disease in children and adolescents aged 1-17. A pilot study before this law found a 2.8–2.9% prevalence of celiac-specific antibodies in screened children, showing a high rate of previously undiagnosed cases. This proactive screening approach uncovers cases that might otherwise go undetected, contributing to a higher diagnosed prevalence compared to countries relying only on symptom-based testing.
The Genetic Predisposition in the Italian Population
Celiac disease is an immune-mediated disorder caused by a combination of genetic susceptibility and environmental triggers. The main genetic markers are the human leukocyte antigen (HLA) genes, particularly HLA-DQ2 and HLA-DQ8. These genes are common in many European populations, and studies confirm their prevalence and association with celiac disease within the Italian population.
The Role of HLA-DQ2 and HLA-DQ8
Around 95% of celiac patients globally carry HLA-DQ2, and most others carry HLA-DQ8. While these genes are necessary, they are not sufficient for developing celiac disease. Studies on Italian groups show a strong link with DR3 and DR7 HLA genes, which relate to the HLA-DQ2 and HLA-DQ8 predispositions. The high frequency of these risk genes in Italy’s population provides a genetic basis for the disease when environmental factors are present.
Environmental Factors and the Role of Diet
Environmental factors also play a role in triggering celiac disease. A significant factor is gluten consumption. In Italy, where pasta, pizza, and bread are staple foods, exposure to gluten is high from a young age. It's important to note that while Italian wheat might differ from wheat in other regions, it still contains gluten and is not safe for people with celiac disease. All wheat contains the proteins that cause the autoimmune reaction.
Potential Environmental Triggers
Research suggests other factors like the gut microbiome, early infections (such as rotavirus), and infant feeding practices might be involved. These factors can affect the intestinal barrier and increase risk in genetically susceptible individuals. The experience with celiac disease in Italy reflects a complex interaction between traditional diet and changing environmental factors.
The “Italian Celiac Iceberg”: Diagnosed vs. Undiagnosed
The 'celiac iceberg' concept highlights that many cases are undiagnosed. Italy has a higher percentage of diagnosed cases than many other countries, though it's still only a part of the total affected population. High public awareness and strong support from organizations like the Associazione Italiana Celiachia (AIC) are effective in identifying hidden cases.
| Comparison Table: Celiac Diagnosis in Italy vs. Other Regions | Aspect | Italy | Global Average | Germany | Finland |
|---|---|---|---|---|---|
| Diagnosed Prevalence | ~1.6% | ~1% | <0.3% | ~1.9% (Highest) | |
| Diagnosis Rate (Iceberg) | ~40% (children screened) | Lower (varies) | Very low | High (focused screening) | |
| National Screening | Yes, legally mandated for pediatric age groups | No (varies) | No | No (high prevalence recognized) | |
| Key Contributing Factor | Combination of high genetic risk and high diagnostic activity | Variable genetics and awareness | Variable genetics and lower awareness | Highest genetic predisposition |
The Italian Response: A Proactive Model
Italy's approach to celiac disease is considered a global model. The government provides a monthly stipend to registered celiacs to help cover the cost of gluten-free products. This financial aid, along with the AIC's efforts to certify restaurants and increase gluten-free food options, makes Italy one of the most supportive countries for people with celiac disease. These measures improve the lives of those diagnosed and encourage diagnosis.
Conclusion
The higher number of diagnosed celiac cases in Italy is due to a combination of factors: a genetic predisposition common in Southern Europe, a traditional gluten-rich diet, and an advanced healthcare system that actively diagnoses cases. While prevalence rates are similar to other populations with similar genetics, Italy's societal and governmental recognition of the disease has increased its visibility. This has resulted in a nation that is both highly aware of its celiac population and actively supports them, setting a high standard for celiac care globally. To learn more about celiac genetics, consider reviewing resources from the Celiac Disease Foundation.
