Deficit di alfa-1 antitripsina: Diagnosi e terapia

Translated title of the contribution: Alpha-1 antitrypsin deficiency: Diagnosis and treatment

Bruno Balbi, Luciano Corda, Maurizio Luisetti

Research output: Contribution to journalArticlepeer-review

Abstract

Alpha-1 antitrypsin (AAT) deficiency (D) is an autosomic codominant genetic condition associated with an increased risk of lung and liver disease. Lung disease is usually seen as an emphysema developing during the 4th or 5th decade, that may be associated with disseminated bronchiectasis, or it may be more similar to a COPD or, more rarely, to asthma. Liver disease can be seen within the first year of life as hepatic cholestasis, or later on during the 5th or 6th decade as a chronic hepatic disorder or liver cirrhosis or even hepatic cancer. Gene-environment interaction is crucial in AATD associated clinical manifestations. The risk of lung diseases is increased manifold in smokers. Life-long non smokers can be asymptomatic and without any evidence of lung disease for the whole life. Diagnosis is based on the determination of AAT plasma levels followed, in the case of values lower than normal, by genotyping. Pharmacological treatment of lung disease (COPD) associated with AATD comprises AAT replacement therapy, i.e. a weekly i.v. infusion of AAT from the blood donor pool. Replacement therapy is considered able to slow the annual decline of lung function, particularly accelerated in AATD. Pulmonary rehabilitation, lung or liver transplantation are the other non-pharmacological options in the management of AATD associated diseases.

Translated title of the contributionAlpha-1 antitrypsin deficiency: Diagnosis and treatment
Original languageItalian
JournalMultidisciplinary Respiratory Medicine
Volume5
Issue numberSUPPL. 3
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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