Show simple item record

dc.contributor.authorMcElvaney, Gerard N
dc.contributor.authorSandhaus, Robert A
dc.contributor.authorMiravitlles, Marc
dc.contributor.authorTurino, Gerard M
dc.contributor.authorSeersholm, Niels
dc.contributor.authorWencker, Marion
dc.contributor.authorStockley, Robert A
dc.date.accessioned2021-08-16T15:00:56Z
dc.date.available2021-08-16T15:00:56Z
dc.date.issued2020-06-18
dc.identifier.pmid32165400
dc.identifier.doi10.1183/13993003.02410-2019
dc.identifier.urihttp://hdl.handle.net/10147/630083
dc.description.abstractα1-Antitrypsin deficiency (AATD), characterised by reduced levels or functionality of α1-antitrypsin (AAT), is a significantly underdiagnosed genetic condition that predisposes individuals to lung and liver disease. Most of the available data on AATD are based on the most common, severe deficiency genotype (PI*ZZ); therefore, treatment and monitoring requirements for individuals with the PI*SZ genotype, which is associated with a less severe AATD, are not as clear. Recent genetic data suggest the PI*SZ genotype may be significantly more prevalent than currently thought, due in part to less frequent identification in the clinic and less frequent reporting in registries. Intravenous AAT therapy, the only specific treatment for patients with AATD, has been shown to slow disease progression in PI*ZZ individuals; however, there is no specific evidence for AAT therapy in PI*SZ individuals, and it remains unclear whether AAT therapy should be considered in these patients. This narrative review evaluates the available data on the PI*SZ genotype, including genetic prevalence, the age of diagnosis and development of respiratory symptoms compared with PI*ZZ individuals, and the impact of factors such as index versus non-index identification and smoking history. In addition, the relevance of the putative 11 µM "protective threshold" for AAT therapy and the risk of liver disease in PI*SZ individuals is explored. The purpose of this review is to identify open research questions in this area, with the aim of optimising the future identification and management of PI*SZ individuals.en_US
dc.languageen
dc.language.isoenen_US
dc.rightsCopyright ©ERS 2020.
dc.subjectLUNG DISEASEen_US
dc.subjectLIVER DISEASEen_US
dc.subjectGENETIC FACTORSen_US
dc.titleClinical considerations in individuals with α-antitrypsin PI*SZ genotype.en_US
dc.typeArticleen_US
dc.typeOtheren_US
dc.identifier.eissn1399-3003
dc.identifier.journalThe European respiratory journalen_US
dc.description.peer-reviewpeer-reviewen_US
dc.source.journaltitleThe European respiratory journal
dc.source.volume55
dc.source.issue6
refterms.dateFOA2021-08-16T15:00:57Z
dc.source.countryEngland


Files in this item

Thumbnail
Name:
ERJ-02410-2019.pdf
Size:
422.2Kb
Format:
PDF

This item appears in the following Collection(s)

Show simple item record