Global Prevalence and Symptoms of Celiac Disease in First-Degree Relatives: Key Findings from a Meta-Analysis (+Video)

Celiac.com 01/29/2025 - Celiac disease is a chronic autoimmune condition triggered by gluten consumption. It is known that close family members of individuals with celiac disease face a higher risk of developing the condition themselves. To better understand this risk, researchers conducted a comprehensive review and analysis of existing studies to estimate the prevalence of celiac disease among first-degree relatives and explore the symptoms they experience. The results highlight significant patterns and offer critical insights for early detection and management strategies.

Study Scope and Methodology

The analysis included 34 studies encompassing over 10,000 first-degree relatives of individuals diagnosed with celiac disease. First-degree relatives are defined as parents, children, and siblings. These studies used anti-tissue transglutaminase antibody tests to screen for celiac disease and confirmed diagnoses through intestinal biopsies when necessary.

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The researchers compiled data from multiple regions to determine both the overall prevalence of the disease and its symptoms among these close relatives. The data was further analyzed to assess differences in prevalence between various family roles, geographical regions, and the presence of symptoms.

Prevalence of Celiac Disease Among First-Degree Relatives

The study found that first-degree relatives of individuals with celiac disease face a significantly elevated risk of developing the condition compared to the general population. Approximately 11% of these relatives tested positive for celiac disease antibodies, and 7% had biopsy-confirmed celiac disease.

Family roles played a key part in determining risk levels:

• Daughters had the highest prevalence rate, with 1 in 4 (23%) affected.
• Sisters were the second most impacted group, with a 14% prevalence rate.
• Brothers and sons showed lower but notable prevalence rates of 9% and 6%, respectively.
• Parents, particularly fathers, showed the lowest prevalence rates, around 5%.

These findings emphasize the importance of targeted screening for close female relatives, particularly daughters and sisters, who appear to be at the greatest risk.

Regional Differences in Prevalence

The prevalence of celiac disease among first-degree relatives varied widely across different countries and regions. Some of the highest antibody prevalence rates were observed in Hungary (24%) and Cuba (19%). Similarly, Serbia (16%) and the United States (15%) reported the highest rates of biopsy-confirmed celiac disease.

This variation may be influenced by genetic factors, dietary patterns, healthcare access, and cultural awareness of celiac disease. Regions with higher awareness and diagnostic capabilities are more likely to report higher prevalence rates.

Symptoms and Asymptomatic Cases

The study also examined the symptoms experienced by first-degree relatives with celiac disease. The majority of cases presented with gastrointestinal symptoms:

• Abdominal pain was the most commonly reported symptom, affecting 42% of cases.
• Bloating (39%) and flatulence (38%) were also frequent complaints.

Interestingly, a substantial portion of relatives with celiac disease (34%) reported no symptoms at all. This underscores the silent nature of the disease in many individuals, making routine screening even more essential for early detection.

Non-gastrointestinal symptoms were also noted, with pallor being the most frequent (54%), possibly indicating anemia or nutrient deficiencies.

Implications for Screening and Management

Given that approximately 1 in 14 first-degree relatives of celiac disease patients has the condition, routine screening of this population could play a critical role in early detection. Early diagnosis allows for timely dietary interventions, reducing the risk of long-term complications such as nutrient deficiencies, osteoporosis, and other autoimmune conditions.

Daughters and sisters, who exhibit the highest risk, should be prioritized in screening programs. Additionally, healthcare providers should consider screening asymptomatic relatives, as they may unknowingly harbor the disease and its associated risks.

Why This Study Matters for Families Affected by Celiac Disease

This research underscores the genetic connection in celiac disease and highlights the need for vigilance among family members of diagnosed individuals. It provides a clearer picture of which relatives are most at risk and the range of symptoms they might experience—or not experience at all.

For families managing celiac disease, these findings emphasize the importance of open communication with healthcare providers about familial risk and the value of proactive screening. Early detection in first-degree relatives can help prevent unnecessary suffering and improve quality of life through timely dietary changes and medical support.

In conclusion, this study sheds light on the significant prevalence of celiac disease among close family members and calls for a more comprehensive approach to screening and education. By identifying high-risk individuals early, healthcare systems can better support those affected by this lifelong condition.

Read more at: journals.lww.com

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