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Alpha 1-antitrypsin-deficiency-related emphysema
1Pulmonary and Critical Care Medicine Division, Oregon Health Sciences University, Portland 97201.
The Journal of the American Board of Family Practice
|September 1, 1992
Summary
Alpha 1-antitrypsin (A1AT) deficiency is a congenital cause of emphysema, affecting 1 in 2500 individuals. This condition presents in middle-aged adults and requires management through smoking cessation and potential A1AT augmentation therapy.
Area of Science:
- Pulmonology
- Genetics
Background:
- Alpha 1-antitrypsin (A1AT) deficiency is a genetic disorder affecting 1 in 2500 individuals.
- It is a congenital cause of emphysema, potentially accounting for 2% of all emphysema cases.
- Individuals aged 30-45 with shortness of breath and coughing may have A1AT deficiency.
Purpose of the Study:
- To review the characteristics and management of emphysema caused by Alpha 1-antitrypsin (A1AT) deficiency.
- To differentiate A1AT deficiency-related emphysema from smoker's emphysema.
- To discuss current and future therapeutic strategies.
Main Methods:
- Literature search of MEDLINE database from 1985 to present.
- Keywords used: "alpha 1-antitrypsin deficiency," "chronic obstructive pulmonary disease," and "emphysema."
- Cross-referencing of articles published before 1985.
Main Results:
- A1AT deficiency causes panacinar emphysema, distinct from smoker's emphysema.
- Onset typically occurs in middle-aged patients, with increased severity at lung bases.
- Associated conditions include chronic bronchitis, mucous hypersecretion, liver disease, and family history of emphysema.
Conclusions:
- Clinical management emphasizes smoking and pollution avoidance.
- Intravenous A1AT replacement therapy is available.
- Future treatments include synthetic elastase inhibitors and aerosolized A1AT.