title: α1-Antitrypsin Deficiency.
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.
authors: Respiratory Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Desk A-90, Cleveland, OH 44195, USA. Electronic address: hatipou@ccf.org.
authors: Umur
authors: U
authors: Hatipoğlu
authors: Education Institute, Cleveland Clinic Lerner School of Medicine, Cleveland Clinic, NA 22, Cleveland, OH 44195, USA.
authors: James K
authors: JK
authors: Stoller
mesh_terms: D018450:Disease Progression; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D015434:Panniculitis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D011656:Pulmonary Emphysema / Q000188:drug therapy / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D015842:Serine Proteinase Inhibitors / Q000627:therapeutic use; D014657:Vasculitis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology
chemical_list: D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin
keywords: Augmentation therapy; Cirrhosis; Diagnostic testing; Emphysema; Targeted detection; α(1)-Antitrypsin deficiency