Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.

ABSTRACT:

Background

Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history.

Methods

The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022.

Results

A total of 1044 individuals from 15 countries were analysed. The most frequent genot

SUBMITTER: Miravitlles M 

PROVIDER: S-EPMC9756677 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature