Test Background Familial A1AT deficiency leads to predominantly unrestricted proliferation of neutrophil-mediated elastase in the tissues of the lung, causing extensive collateral damage and subsequent emphysema-like symptoms in adults. Alternatively, neonatal accumulation of dysfunctional A1AT in the liver causes the production of abnormal polymers that damage the surrounding tissues of the liver.
Clinical Indications Unexplained liver cirrhosis in juveniles (and rarely adults)
Suspected early-onset emphysema (juveniles/adults) or emphysema with or without family history
Observed deficiency as seen on routine serum electrophoresis