Demographic and clinical characteristics of patients with α₁-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO.

ABSTRACT:

Background

The Spanish registry of α₁-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the PI*SZ genotype, which is frequent in Spain.

Method

Individuals with severe AATD defined as proteinase inhibitor (PI) genotypes PI*ZZ, PI*SZ and other rare deficient variants were included from February 1, 2020, to February 1, 2022. The analysis focused on a comparison of the characteristics of PI*ZZ and PI*SZ patients.

Results

409 patients were included (53.8% men) with a mean±sd age of 53.5±15.9 years. Genotypes were PI*ZZ in 181 (44.7%), PI*SZ in 163 (40.2%), PI*SS in 29 (7.2%) and other in 32 (7.9%). 271 (67.4%) had lung disease: 175 c

SUBMITTER: Torres-Duran M 

PROVIDER: S-EPMC9511153 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature