Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F22%3AN0000053" target="_blank" >RIV/00064190:_____/22:N0000053 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1186/s12931-022-02275-4" target="_blank" >https://doi.org/10.1186/s12931-022-02275-4</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12931-022-02275-4" target="_blank" >10.1186/s12931-022-02275-4</a>
Alternative languages
Result language
angličtina
Original language name
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry
Original language description
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 mu M 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 genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). Conclusions: EARCO has recruited >1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30203 - Respiratory systems
Result continuities
Project
—
Continuities
N - Vyzkumna aktivita podporovana z neverejnych zdroju
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
RESPIRATORY RESEARCH
ISSN
1465-993X
e-ISSN
1465-9921
Volume of the periodical
23
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
Article Number: 352
UT code for WoS article
000927928700003
EID of the result in the Scopus database
2-s2.0-85144143118