Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

Area of Science:

• Pulmonary Medicine
• Medical Genetics
• Clinical Diagnostics

Background:

• Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder often underdiagnosed.
• Previous efforts showed awareness campaigns and free testing increase AATD detection.
• This study updates findings from a targeted AATD screening program in Germany (2003-2015).

Purpose of the Study:

• To evaluate the effectiveness of a targeted screening program for Alpha-1-antitrypsin deficiency (AATD).
• To analyze detection rates over time and the impact of screening efforts.
• To identify clinical predictors for severe AATD genotypes.

Main Methods:

• Offered free diagnostic AATD test kits for semiquantitative AAT-level measurement and allele detection (PCR).
• Utilized nephelometry, PCR, and isoelectric focusing for genetic analysis.
• Analyzed clinical parameters to predict severe AATD.

Main Results:

• Analyzed 18,638 test kits from 2003-2015, identifying 1835 patients with severe AATD (9.82%).
• 37.12% of participants carried at least one AATD mutation.
• COPD, emphysema, and bronchiectasis predicted Pi*ZZ genotype; asthma, cough, and phlegm predicted non-Pi*ZZ genotypes.

Conclusions:

• A targeted screening program with awareness and free testing achieves high AATD detection rates.
• Clinical data support prioritizing AATD testing for patients with COPD, emphysema, or bronchiectasis.
• This approach aids in diagnosing this underdiagnosed genetic condition.