title: Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency.
abstract: 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.
authors: a Department of Medicine , Pennsylvania State University College of Medicine at Hershey Medical Center , Hershey , PA , USA.
authors: Maria Paula
authors: MP
authors: Henao
authors: b Department of Medicine , Pediatrics Pennsylvania State University College of Medicine at Hershey Medical Center , Hershey , PA , USA.
authors: Timothy J
authors: TJ
authors: Craig
mesh_terms: D001249:Asthma / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D005838:Genotype; D006801:Humans; D029424:Pulmonary Disease, Chronic Obstructive / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy
keywords: A1-antitrypsin; A1-antitrypsin deficiency; AAT; AATD; Alpha-1-Antitrypsin deficiency; alpha-1-antitrypsin; augmentation therapy; emphysema; liver disease; panniculitis; serpinopathy; vasculitis