Screening and familial testing of patients for α1-antitrypsin deficiency

DK Hogarth, G Rachelefsky - Chest, 2008 - Elsevier
α 1-Antitrypsin deficiency (AATD) is an autosomal-codominant genetic disorder that
predisposes individuals to the development of liver and lung disease. AATD is greatly
underrecognized and underdiagnosed. Early identification allows preventive measures to
be taken, the most important of which is the avoidance of smoking (including the inhalation
of second-hand smoke) and exposure to environmental pollutants. Early detection also
allows careful lung function monitoring and augmentation therapy while the patient still has …