Abstract
α1-Antitrypsin deficiency is an autosomal codominant condition that predisposes to emphysema and cirrhosis. The condition is common but grossly under-recognized. Identifying patients' α1-antitrypsin deficiency has important management implications (ie, smoking cessation, genetic and occupational counseling, and specific treatment with the infusion of pooled human plasma α1-antitrypsin). The weight of evidence suggests that augmentation therapy slows the progression of emphysema in individuals with severe α1-antitrypsin deficiency.
Keywords:
Augmentation therapy; Cirrhosis; Diagnostic testing; Emphysema; Targeted detection; α(1)-Antitrypsin deficiency.
Copyright © 2016 Elsevier Inc. All rights reserved.
MeSH terms
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Disease Progression
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Humans
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Liver Cirrhosis / etiology
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Liver Cirrhosis / genetics
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Liver Cirrhosis / physiopathology*
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Panniculitis / etiology
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Panniculitis / genetics
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Panniculitis / physiopathology
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Pulmonary Emphysema / drug therapy
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Pulmonary Emphysema / etiology
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Pulmonary Emphysema / genetics
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Pulmonary Emphysema / physiopathology*
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Serine Proteinase Inhibitors / therapeutic use
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Vasculitis / etiology
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Vasculitis / genetics
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Vasculitis / physiopathology
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alpha 1-Antitrypsin / genetics*
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alpha 1-Antitrypsin / therapeutic use
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alpha 1-Antitrypsin Deficiency / complications
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alpha 1-Antitrypsin Deficiency / drug therapy
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alpha 1-Antitrypsin Deficiency / genetics
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alpha 1-Antitrypsin Deficiency / physiopathology
Substances
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Serine Proteinase Inhibitors
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alpha 1-Antitrypsin