Celiac disease in the 21st century: issues of under- and over-diagnosis

Area of Science:

• Gastroenterology
• Immunology
• Internal Medicine

Background:

• Celiac disease (CD) was historically viewed as a pediatric condition but is now recognized as common in adults.
• Increased awareness and advanced diagnostics like serological markers and endoscopy have led to a rise in CD diagnoses.
• Despite progress, many adult CD cases remain undiagnosed, particularly in the elderly or those with atypical symptoms.

Discussion:

• The rise in CD diagnoses is accompanied by an increase in unfounded diagnoses, often due to symptomatic diagnosis and unvalidated testing methods.
• This trend contributes to increased healthcare costs through unnecessary gluten-free diet prescriptions.
• Accurate diagnosis is crucial to avoid both under-diagnosis and over-diagnosis, ensuring appropriate patient care and resource allocation.

Key Insights:

• Sophisticated endoscopic techniques and reliable serological markers have improved adult celiac disease detection.
• Under-diagnosis persists in specific populations like the elderly and those with non-classic presentations.
• Over-diagnosis is a growing concern, driven by symptomatic diagnosis and the use of unvalidated tests.

Outlook:

• Developing and implementing standardized diagnostic algorithms are essential to mitigate under- and over-diagnosis of celiac disease.
• Further research into the morphologic aspects of the small bowel, including electron microscopy, can aid in accurate diagnosis.
• Optimizing diagnostic pathways will improve patient outcomes and reduce healthcare expenditure related to celiac disease management.