Celiac Disease Screening for High-Risk Groups: Are We Doing It Right?

Area of Science:

• Gastroenterology and Immunology
• Genetics and Autoimmunity

Background:

• Celiac disease (CD) is an immune-mediated enteropathy triggered by gluten in genetically susceptible individuals.
• Traditionally diagnosed via symptomatic case-finding, the diagnostic approach is evolving to include asymptomatic, high-risk groups.
• High-risk populations include first-degree relatives and individuals with Type 1 diabetes, autoimmune thyroid disease, Down syndrome, and Turner syndrome.

Purpose of the Study:

• To review current screening strategies for celiac disease (CD).
• To highlight the importance of screening in specific high-risk populations.
• To discuss recent advancements in CD diagnosis and management.

Main Methods:

• Literature review of recent research on celiac disease screening.
• Analysis of diagnostic paradigms for CD in various populations.
• Focus on serological screening in high-risk groups.

Main Results:

• Celiac disease is frequently diagnosed in individuals with specific genetic predispositions and other autoimmune conditions.
• Screening is valuable for identifying CD in asymptomatic relatives and patients with Type 1 diabetes, autoimmune thyroid disease, Down syndrome, and Turner syndrome.
• CD is also a common cause of iron deficiency anemia and chronic diarrhea.

Conclusions:

• Screening for celiac disease (CD) is crucial in identified high-risk populations, even in the absence of overt symptoms.
• The diagnostic paradigm is shifting towards proactive screening in genetically susceptible individuals.
• Further research and development in CD diagnostics are essential for timely intervention.