Development of a simple clinical score to prioritize detection of severe alpha-1 antitrypsin deficiency with PiZZ genotype

Alpha-1 antitrypsin deficiency (AATD) is caused primarily by the PiZZ genotype in SERPINA1 and remains underdiagnosed despite its association with severe lung and liver diseases. We aimed to develop and validate a clinical score using electronic health record (EHR) data to identify individuals more likely to carry the PiZZ genotype.