Identifying Alpha-1 Antitrypsin Deficiency Based on Computed Tomography Evidence of Emphysema

Introduction Chronic obstructive pulmonary disease (COPD) is most commonly caused by smoking tobacco or cigarettes. However, alpha-1 antitrypsin deficiency (AATD) is the only genetic disorder known to cause COPD and these patients often present with emphysema earlier in life and with more severe disease. Additionally, AATD patients are often misdiagnosed with other lung disorders, and the diagnosis is often delayed for up to a decade. Furthermore, several clinicians may see the patient before genetic testing is performed and an official diagnosis is made. We hypothesized that patients with radiographic emphysema on computed tomography (CT) scan of the chest would represent an enriched population of patients with a higher prevalence of alpha-1 antitrypsin (AAT) carrier or heterozygous state. Methods We evaluated 250 in-patients with chest computed tomography (CT) findings of emphysema, and per clinical guidelines, all were tested for AAT with Alphakit finger stick blood collection kits. Sampling 250 patients provided power to detect a carrier prevalence of 20% +/- 1.0%. Results A total of 250 patients were recruited of which 53% were male, 91% Caucasian, 7% African American, and 16% active smokers. They smoked an average of 39 packs per year. The prevalence of carrier status (Pi*MS or Pi*MZ) was 6.8% (95% CI (4%, 11%)). The mean forced expiratory volume in one second (FEV-1) was 53%, predicted among Pi*MM patients (n=126) and not significantly different from the Pi*MS group (50%, n=13). 69% of Pi*MM were diagnosed with asthma or COPD, vs. 79% of Pi*MS (n=14) and 100% Pi*MZ (n=3), but the difference was not significant (p=0.4). Conclusion In the population studied, compared to a cohort of patients with abnormal pulmonary function tests (PFTs), radiographically evident emphysema did not identify patients at higher risk of being heterozygous or homozygous for AAT deficiency.