2005
DOI: 10.1081/copd-200057602
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A Review of Alpha-1 Antitrypsin Deficiency

Abstract: Alpha-1 antitrypsin (AAT) deficiency is a common but under-recognized disease. This hereditary disorder is characterized by low levels of AAT, and increased risks of panacinar emphysema at an early age, liver disease, vasculitis and panniculitis. Destruction of lung parenchyma and consequent emphysema result from an imbalance between different inflammatory proteases (in particular, leukocyte elastase), and the major natural antiprotease, AAT. To offer a review of key aspects of this important condition, we pre… Show more

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“…The study of these proteinases has been complicated by the diversity of COPD phenotypes, which include components of emphysema and chronic bronchitis, as well as the common co-morbid cardiovascular and other systemic diseases associated with COPD, all of which potentially confound the analyses of biomarker-disease associations [1,5]. Because AATD-associated emphysema represents a more homogenous phenotype of COPD, with a more rapid decline in pulmonary status, generally at a younger age with fewer comorbidities, it offers a potential model for understanding COPD pathogenesis with respect to proteinases beyond those directly inhibited by alpha 1 -antitrypsin [2,6]. …”
Section: Introductionmentioning
confidence: 99%
“…The study of these proteinases has been complicated by the diversity of COPD phenotypes, which include components of emphysema and chronic bronchitis, as well as the common co-morbid cardiovascular and other systemic diseases associated with COPD, all of which potentially confound the analyses of biomarker-disease associations [1,5]. Because AATD-associated emphysema represents a more homogenous phenotype of COPD, with a more rapid decline in pulmonary status, generally at a younger age with fewer comorbidities, it offers a potential model for understanding COPD pathogenesis with respect to proteinases beyond those directly inhibited by alpha 1 -antitrypsin [2,6]. …”
Section: Introductionmentioning
confidence: 99%
“… 23 , 27 29 Currently, although alpha-1-antitrypsin deficiency is the only robustly defined inherited form of COPD that can explain familial aggregation of COPD, 30 <3% of people with COPD have this deficiency. 31 Intergenerational associations overlap with the risk factors associated with the development of COPD, including smoking behavior of parents and offspring, educational achievement, lung function, and conditions or diseases such as asthma and lung cancer. 29 , 32 35 Concepts, knowledge, and behaviors about health can be transmitted from one generation to the next.…”
Section: Introductionmentioning
confidence: 99%