Abstract
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.
Abstract
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
Footnotes
Conflict of interest: I. Ferrarotti reports grants, and personal fees for seminars and congress participation, from CSL Behring, outside the submitted work.
Conflict of interest: All other authors have nothing to disclose.
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