Sleep apnea among individuals with Alpha-1 antitrypsin deficiency-associated lung disease

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that has high rates of associated COPD. We explored whether obstructive sleep apnea (OSA) diagnosis, excessive sleepiness, and OSA risk scores differ by AATD genotype.

A cross-sectional survey was completed by individuals with AATD-associated lung disease. Multivariate logistic regression was used to examine the association of genotype and other participant characteristics with: 1) self-reported OSA diagnosis, 2) excessive sleepiness measured by Epworth Sleepiness Scale, and 3) risk of OSA measured by STOP-BAG. We also examined whether characteristics such as body mass index (BMI) differ by genotype, using chi-square tests.

Of the 1137 participants, 31.57 % had been diagnosed with OSA. Individuals with low-to-moderate risk genotypes (e.g., MZ, SZ) had a higher rate of OSA diagnosis than severe deficiency genotypes (e.g., ZZ, ZNull): 39.76 % vs 26.76 % (p < 0.001) and were more likely to have excessive sleepiness if diagnosed with OSA (31.52 % vs 19.79 %, p = 0.012). These differences remained statistically significant in multivariate models: for OSA diagnosis OR = 1.37, p = 0.046 and for excessive sleepiness OR = 1.87, p = 0.021. Individuals with low-to-moderate risk genotypes had a higher rate of BMI >35 kg/m² (17.86 % vs 8.31 %, p < 0.001) and were more likely to have smoked ≥40 pack-years (29.60 % vs 8.16 %, p < 0.001).

Among individuals with AATD-associated lung disease, OSA is highly prevalent. Differential OSA prevalence by genotype in the AATD population may be driven by health behaviors such as smoking and weight management. Direct comparison to populations without AATD is needed to define if AATD directly contributes to OSA risk.