Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project.
Respir Res
; 25(1): 260, 2024 Jun 26.
Article
em En
| MEDLINE
| ID: mdl-38926693
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 13 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 < 0.001) and better preserved lung function, fewer exacerbations, lower level of dyspnoea, and better QoL. In contrast, no significant differences were found in the prevalence of lung diseases between PI*SS and PI*SZ, or lung function parameters, exacerbations, dyspnoea, or QoL.CONCLUSIONS:
We found that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared with PI*ZZ, but does not differ from that observed in PI*SZ individuals, despite having higher serum AAT levels. TRIAL REGISTRATION www. CLINICALTRIALS gov (ID NCT04180319).Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Alfa 1-Antitripsina
/
Deficiência de alfa 1-Antitripsina
/
Genótipo
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Portugal