Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study

TL;DR

This study examines the characteristics of patients with Alpha-1 Antitrypsin Deficiency in rural Appalachia, highlighting differences in health conditions between males and females.

Contribution

The study provides insights into sex-based differences in clinical and demographic features among AAT-deficient patients in a rural Appalachian setting.

Findings

Males had higher rates of black lung and COPD compared to females.

Females showed higher rates of asthma, COVID-19, pneumothorax, and obstructive sleep apnea.

The study highlights the importance of genotype-phenotype correlations in AAT deficiency.

Abstract

Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant inherited condition, significantly impacts lung and liver functions, with mutations in the SERPINA1 gene, notably the Z allele, playing a pivotal role in disease susceptibility. This retrospective descriptive study from a rural Eastern Kentucky pulmonary clinic aimed to characterize patients with AAT deficiency, focusing on demographic, clinical, and laboratory parameters extracted from electronic health records (EHR) of Appalachian Regional Healthcare (ARH). Among 100 patient encounters, 56 were analyzed, revealing notable sex-based differences in smoking rates and co-existing conditions, with males showing higher rates of black lung and chronic obstructive pulmonary disease. In comparison, females exhibited higher rates of asthma, COVID-19, pneumothorax, and obstructive sleep apnea. The study emphasizes the importance of understanding genotype-phenotype correlations and demographic factors in assessing AAT deficiency, advocating for further research to refine management strategies and elucidate causal relationships.