title: Alpha-1-antitrypsin deficiency and liver disease.
abstract: Alpha-1-antitrypsin deficiency is a common autosomal recessive disorder associated with premature development of emphysema, liver cirrhosis and hepatocellular carcinoma. This article reviews the existing literature on alpha-1-antitrypsin deficiency, with an emphasis on recent developments. A description of the protein, gene structure and function of alpha-1-antitrypsin as well as clinical aspects are presented. Treatment issues are addressed and a framework for the diagnostic workup and management of patients with alpha-1-antitrypsin deficiency and chronic liver disease is provided.
authors.affiliation: Department of Internal Medicine, Innsbruck University, Austria.
authors.forename: T
authors.initials: T
authors.lastname: Propst
authors.forename: A
authors.initials: A
authors.lastname: Propst
authors.forename: O
authors.initials: O
authors.lastname: Dietze
authors.forename: G
authors.initials: G
authors.lastname: Judmaier
authors.forename: H
authors.initials: H
authors.lastname: Braunsteiner
authors.forename: W
authors.initials: W
authors.lastname: Vogel
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000209:etiology; D002908:Chronic Disease; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology; D008107:Liver Diseases / Q000209:etiology* / Q000628:therapy; D008113:Liver Neoplasms / Q000209:etiology; D011656:Pulmonary Emphysema / Q000209:etiology; D000515:alpha 1-Antitrypsin / Q000737:chemistry / Q000235:genetics / Q000502:physiology; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin