Alpha-1 Antitrypsin Deficiency Associated COPD

Charlie Strange

doi:10.1016/j.ccm.2020.05.003

Alpha-1 Antitrypsin Deficiency Associated COPD

Clin Chest Med. 2020 Sep;41(3):339-345. doi: 10.1016/j.ccm.2020.05.003.

Author

Charlie Strange¹

Affiliation

¹ Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, MSC630, Charleston, SC 29425, USA. Electronic address: strangec@musc.edu.

PMID: 32800189
DOI: 10.1016/j.ccm.2020.05.003

Abstract

Alpha-1 antitrypsin deficiency (AATD) was the first genetic risk factor for chronic obstructive pulmonary disease (COPD) described. In the more than 50 years since its description, the disease continues to provide insights into more common forms of COPD. Although AATD is caused by a single genetic variant, the clinical manifestations of disease include panacinar emphysema, airway hyperresponsiveness, and bronchiectasis. With improved molecular understanding of the mechanisms of disease pathogenesis and progression, new therapies in addition to intravenous augmentation therapy are on the horizon.

Keywords: Alpha-1; Antiprotease; Antitrypsin; Emphysema; Genetic; Protease.

Publication types

Review

MeSH terms

Humans
Pulmonary Disease, Chronic Obstructive / etiology*
Pulmonary Disease, Chronic Obstructive / pathology
alpha 1-Antitrypsin Deficiency / complications*
alpha 1-Antitrypsin Deficiency / pathology