Testing Alpha-1 Antitrypsin Deficiency in Black Populations

Highlights What are the main findings? Alpha-1 antitrypsin deficiency is extensively studied in populations of European ancestry but other ethnic populations also carry mutations that may be harmful to these populations.SERPINA1The majority of studies undertaken in non-European populations screen for mutations in small subject numbers and not from the general population. What is the implication of the main finding? SERPINA1Insufficient alpha-1 antitrypsin deficiency testing is performed in Black populations that already experience poor health outcomes.Diagnosis of severe SERPINA1 mutations and counseling assists patients in their health education and a diagnosis of alpha-1 antitrypsin deficiency is a stronger motivator to quit smoking, improves the frequency of regular health checks, and lung and liver scans in patients.Highlights What are the main findings? Alpha-1 antitrypsin deficiency is extensively studied in populations of European ancestry but other ethnic populations also carry mutations that may be harmful to these populations.SERPINA1The majority of studies undertaken in non-European populations screen for mutations in small subject numbers and not from the general population. What is the implication of the main finding? SERPINA1Insufficient alpha-1 antitrypsin deficiency testing is performed in Black populations that already experience poor health outcomes.Diagnosis of severe SERPINA1 mutations and counseling assists patients in their health education and a diagnosis of alpha-1 antitrypsin deficiency is a stronger motivator to quit smoking, improves the frequency of regular health checks, and lung and liver scans in patients.Abstract Alpha-1 antitrypsin (AAT) deficiency (AATD) is an under-recognized hereditary disorder and a significant cause of chronic obstructive pulmonary disease (COPD), a disease that contributes to global mortality. AAT is encoded by the SERPINA1 gene, and severe mutation variants of this gene increase the risk of developing COPD. AATD is more frequently screened for in non-Hispanic White populations. However, AATD is also observed in other ethnic groups and very few studies have documented the mutation frequency in these other ethnic populations. Here, we review the current literature on AATD and allele frequency primarily in Black populations and discuss the possible clinical outcomes of low screening rates in a population that experiences poor health outcomes and whether the low frequency of AATD is related to a lack of screening in this population or a truly low frequency of mutations causing AATD. This review also outlines the harmful SERPINA1 variants, the current epidemiology knowledge of AATD, health inequity in Black populations, AATD prevalence in Black populations, the clinical implications of low screening of AATD in this population, and the possible dangers of not diagnosing or treating AATD.