Relationship Between Alpha-1 Antitrypsin Deficiency and Obstructive Sleep Apnea

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that causes inadequate production of the alpha-1 antitrypsin (AAT) protein, which is known to protect connective tissues in the body from destruction. The purpose of this dissertation study was to identify if individuals with mild to severe AATD are at higher risk for developing obstructive sleep apnea than the general population. The investigator hypothesized there would be a higher prevalence of OSA in the AATD population due to the etiology of disease. A seven-question sleep apnea risk assessment questionnaire, STOPBAG, was applied to the retrospective, de-identified, self-reported 2,338 participant responses from the Alpha-1 Coded Testing Study (ACT) and 4,638 participant responses from the general population of Kentucky, utilizing the Kentucky Behavioral Risk Factor Survey (KyBRFS). Data analysis identified health care provider diagnosed OSA to be higher in the KyBRFS cohort (p =.012); however STOPBAG OSA risk assessment scores indicated potential underdiagnosis in both cohorts. Chi-square analysis of propensity score matched participants revealed individuals with AATD to be at higher risk for OSA (p \u3c .0001). The analysis demonstrated no difference in OSA risk between AATD mild and severe genotypes. The results of this dissertation study highlight the underdiagnosis rate of OSA and the need for increased screening, detection and treatment