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Treatment of alpha-1 antitrypsin deficiency

James K Stoller, MD, MS
Section Editor
Peter J Barnes, DM, DSc, FRCP, FRS
Deputy Editor
Helen Hollingsworth, MD


Severe deficiency of alpha-1 antitrypsin (AAT) is associated with early onset pulmonary emphysema and with several forms of liver disease, including cirrhosis, neonatal hepatitis, and hepatocellular carcinoma.

The discovery of the structure and function of the AAT protein, and its subsequent isolation and purification, have allowed augmentation therapy (so-called because of less than total replacement) aimed at preventing progression of emphysema [1,2]. The goal of most specific treatment approaches for AAT deficiency is to raise the serum AAT level (and therefore the concentration of AAT in the lung interstitium) above the "protective threshold." Organ transplantation is another option for patients with end-stage lung or liver disease.

The treatment of AAT deficiency will be reviewed here. The clinical manifestations, genetics, and diagnosis of AAT deficiency are discussed separately. (See "Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency" and "Extrapulmonary manifestations of alpha-1 antitrypsin deficiency".)


Supportive care and standard medical therapy for patients with AAT deficiency follow the guidelines for the management of chronic obstructive pulmonary disease (COPD) [3]. (See "Management of stable chronic obstructive pulmonary disease".)

The following components should be included (table 1):

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Literature review current through: Nov 2017. | This topic last updated: Jun 27, 2017.
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