1. Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project
- Author
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Teresa Martín, Catarina Guimarães, Cristina Esquinas, Maria Torres-Duran, Alice M. Turner, Hanan Tanash, Carlota Rodríguez-García, Angelo Corsico, José Luis López-Campos, Eva Bartošovská, Jens-Ulrik Stæhr Jensen, José María Hernández-Pérez, Maria Sucena, and Marc Miravitlles
- Subjects
Alpha-1 antitrypsin ,Lung disease ,Registries ,PI*SS ,Diseases of the respiratory system ,RC705-779 - Abstract
Abstract Background The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European Alpha-1 antitrypsin Deficiency Research Collaboration international registry. Method Demographic, clinical, functional, and quality of life (QoL) parameters were assessed to compare the PI*SS characteristics with the PI*SZ and PI*ZZ controls. A propensity score with 1:3 nearest-neighbour matching was performed for the most important confounding variables. Results The study included 1007 individuals, with PI*SS (n = 56; 5.6%), PI*ZZ (n = 578; 57.4%) and PI*SZ (n = 373; 37.0%). The PI*SS population consisted of 58.9% men, with a mean age of 59.2 years and a mean FEV1(% predicted) of 83.4%. Compared to PI*ZZ individuals they had less frequent lung disease (71.4% vs. 82.2%, p = 0.037), COPD (41.4% vs. 60%, p = 0.002), and emphysema (23.2% vs. 51.9%, p
- Published
- 2024
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