Coeliac disease: is it time for mass screening?

Area of Science:

• Gastroenterology
• Public Health
• Medical Screening

Background:

• Coeliac disease (CD) affects up to 1% of European ancestry populations, with a majority of cases remaining undiagnosed.
• Available serological markers offer high sensitivity and specificity for CD detection, enabling population-wide screening.
• CD presents significant individual and community health burdens, including morbidity and potential long-term complications like gut malignancy and osteoporosis.

Purpose of the Study:

• To evaluate the appropriateness of mass population screening for coeliac disease (CD) using established screening principles.
• To assess the potential benefits and challenges of early CD diagnosis through screening, considering current understanding of disease complications and treatment adherence.
• To explore the implications of different screening methods, including serological testing and HLA typing, for CD detection.

Main Methods:

• Application of Wilson and Jugner's screening principles to coeliac disease.
• Review of current literature on CD prevalence, associated morbidities, and long-term complications.
• Consideration of diagnostic methods including serological markers and duodenal biopsy.
• Evaluation of HLA typing (DQ2/DQ8) as a pre-screening tool.

Main Results:

• While CD is prevalent, recent evidence suggests lower risks of malignancy and osteoporosis than previously assumed, potentially reducing the prophylactic benefits of early screening.
• Dietary gluten exclusion, the primary treatment for CD, poses compliance challenges, especially for asymptomatic individuals.
• The benefits of identifying milder forms of gluten-sensitive enteropathy (Marsh I, II lesions) through screening remain unknown, and treatment protocols for these cases require consensus.
• Screening via serum antibodies may necessitate lifelong repetition, while HLA typing, though enabling exclusion of many, carries ethical considerations.

Conclusions:

• The overall prophylactic benefits of mass coeliac disease screening may be limited due to revised estimates of long-term complication risks.
• Further research is needed to determine the clinical utility of screening for milder enteropathy forms and to establish treatment guidelines.
• The cost-effectiveness of coeliac disease screening programs, balancing screening/treatment costs against prevented morbidity, has not been calculated.