Undiagnosed Alpha-1 Antitrypsin Deficiency and the Perpetuation of Lung Health Inequity

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of mortality worldwide, despite being both preventable and treatable. Up to 90% of COPD deaths occur in low- and middle-income countries (1). However, COPD prevalence, morbidity, and mortality also vary within more affluent regions. In North America and Europe, socially disadvantaged communities are characterized by higher rates of poverty and decreased access to health care, diagnostics, and education (2, 3). Smoking, the major risk factor for the development of COPD, is also more common in areas of social disadvantage (4). Racial and ethnic minorities are overrepresented in underprivileged communities, in which alpha-1 antitrypsin deficiency (AATD), an autosomal-codominant disorder resulting from mutations in SERPINA1 (serpin family A member 1) and the major genetic condition predisposing to COPD, is also significantly underdiagnosed (5).