Alpha1-antitrypsin deficiency: incidence and detection program.

Area of Science:

• Pulmonology
• Genetics
• Clinical Diagnostics

Background:

• Alpha-1 Antitrypsin (AAT) deficiency is significantly underdiagnosed globally, hindering accurate natural history studies and leading to delayed patient care.
• Undiagnosed AAT deficiency results in missed opportunities for crucial lifestyle modifications and preventive treatments for affected individuals.
• The World Health Organization recommends AAT deficiency screening for patients with chronic obstructive lung disease, asthma, and adolescents.

Purpose of the Study:

• To address the challenge of widespread AAT deficiency underdiagnosis.
• To implement and evaluate a comprehensive testing strategy for AAT deficiency using dried blood spot specimens.
• To facilitate the identification of a larger number of undiagnosed AAT deficiency cases.

Main Methods:

• Development and implementation of methods to determine AAT concentration, phenotype, and genotype from dried blood spots.
• Utilizing easily obtainable and shippable specimens for central laboratory processing.
• Leveraging historical data from over 30,000 individuals tested by the AAT Deficiency Detection Center.

Main Results:

• The AAT Deficiency Detection Center has identified over 1000 cases of AAT deficiency, representing approximately 30% of known US cases.
• The implemented dried blood spot testing offers a full spectrum of robust diagnostic capabilities.
• The methodology is suitable for widespread application, potentially identifying numerous undiagnosed patients.

Conclusions:

• Dried blood spot testing provides a practical and comprehensive approach for AAT deficiency screening.
• Widespread adoption of these testing procedures can significantly increase the detection rate of AAT deficiency.
• Early identification through improved screening strategies is vital for managing AAT deficiency and preventing severe clinical manifestations.