RT Journal Article
SR Electronic
T1 Update on α<sub>1</sub>-antitrypsin deficiency
JF Breathe
JO Breathe
FD European Respiratory Society
SP e17
OP e24
DO 10.1183/20734735.015018
VO 14
IS 2
A1 Ilaria Ferrarotti
A1 Stefania Ottaviani
A1 Annalisa De Silvestri
A1 Angelo G. Corsico
YR 2018
UL http://breathe.ersjournals.com/content/14/2/e17.abstract
AB α1-Antitrypsin deficiency (AATD) is an inherited metabolic disorder in which mutations in the coding sequence of the SERPINA1 gene prevent secretion of α1-antitrypsin (α1-AT) and cause predisposition to pulmonary and liver diseases. The heterogeneity of clinical manifestations in AATD is related to the complexity of biological function of α1-AT. The role of smoking is crucial in the natural history of lung damage progression in severe AATD individuals, even if it also partly explains the heterogeneity in lung disease. Lung damage progression in AATD can also be related to body mass index, exacerbation rate, sex, environmental exposure and specific mutations of SERPINA1. Recent randomised controlled trials, together with previous observational work, have provided compelling evidence for the importance of early detection and intervention in order to enable patients to receive appropriate treatment and preserve functional lung tissue.Early detection and intervention in cases of α1-antitrypsin deficiency are essential to enable appropriate treatment and preserve functional lung tissue http://ow.ly/Mr3P30jUEyn