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Cystic disease/congenital anomalies

Emphysema due to alpha-1-antitrypsin deficiency

Reviewers: Elliot Weisenberg, M.D. (see Reviewers page)
Revised: 25 August 2011, last major update August 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.


● Common genetic disorder in whites leading to early-onset panacinar emphysema (eMedicine)
● Emphysema: irreversible enlargement of airspaces distal to terminal bronchiole with destruction of their wall without fibrosis
● Genetic deficiency of alpha-1-antitrypsin (AAT) inhibits proteases, particularly elastase (which digests lung tissue), which is secreted by neutrophils during inflammation
● 75 forms of AAT identified to date; phenotypes are denoted by migration patterns on isoelectric gels; expression of alleles is autosomal co-dominant
● PiMM: normal phenotype; 90% of population
● PiZZ: associated with AAT deficiency, 80% develop symptomatic emphysema, also occurs earlier and is more severe in smokers


● Due to point mutations in the SERPINA1 gene (Expert Rev Clin Immunol 2011;7:243)
● Neutrophils normally present in lung and alveolar space; when stimulated, neutrophils and macrophages increase in number and release elastase and oxygen free radicals, which causes emphysema unless counteracted by antiproteases such as AAT
● Smokers have more neutrophils and macrophages in alveoli; tobacco use enhances release of elastase from neutrophils and enhances elastase activity; oxidants in tobacco smoke inhibit AAT
● About 1% of emphysema patients have AAT deficiency

Case reports

● 63 year old woman (University of Utah)

Gross images

Various images at autopsy

Micro images

Various images at autopsy

End of Lung-nontumor > Cystic disease/congenital anomalies > Emphysema due to alpha-1-antitrypsin deficiency

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