ABSTRACT
Introduction: Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that predisposes individuals to COPD and liver disease. The following is a comprehensive review of AATD from epidemiology to treatment for physicians who treat COPD or asthma.
Areas covered: In this comprehensive review of alpha-1-antitrypsin deficiency, we describe the historical perspective, genetics, epidemiology, clinical presentation and symptoms, screening and diagnosis, and treatments of the condition.
Expert commentary: The two most important directions for advancing the understanding of AATD involve improving detection of the condition, especially in asymptomatic patients, and advancing knowledge of treatments directed specifically at AATD-related conditions. With regard to treatment for AATD-related conditions, research must continue to explore the implications and importance of augmentation therapy as well as consider new implementations that may prove more successful taking into consideration not only factors of pulmonary function and liver health, but also product availability and financial viability.
Acknowledgments
Maria Paula Henao has no conflicts of interest or financial disclosures.
Timothy J. Craig does research for CSL Behring, Dyax, Grifols and Shire. He speaks for CSL Behring, Dyax and Shire. He consults with Biocryst and CSL Behring. He is also on the Advisory Board of the HAE-A.
Declaration of interest
T. Craig does research for CSL Behring, Dyax, Grifols and Shire and speaks for CSL Behring, Dyax and Shire. T. Craig consults with Biocryst and CSL Behring and is on the the advisory board of the HAE-A. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.