Lung Disease of Alpha-1 Antitrypsin Deficiency

  • Robert A. SandhausEmail author
Part of the Respiratory Medicine book series (RM)


Lung disease is the most commonly identified clinical manifestation of alpha-1 antitrypsin deficiency (AATD) and is usually characterized by pulmonary emphysema and/or bronchiectasis (Silverman and Sandhaus, N Engl J Med 360(26):2749–57, 2009). It also represents the most common reason that an adult is tested for AATD (The Alpha 1-Antitrypsin Deficiency Registry Study Group, Chest 106(4):1223–32, 1994). This bias toward testing individuals with lung disease that is of unexplained severity or age of onset has led to the potentially mistaken impression that most individuals with AATD suffer from precocious lung disease. In fact, the percentage of individuals with AATD who suffer from pulmonary problems is currently not known, and most collections of individuals diagnosed with this genetic condition reveal an average age not that dissimilar from patients with non-AATD chronic obstructive pulmonary disease (COPD) (Campos et al., Chest 128(3):1179–86, 2005). The importance of diagnosing AATD-related lung disease is centered around family genetic counseling and the availability of specific therapy.


Alpha-1 antitrypsin Alpha-1 antitrypsin deficiency Emphysema Bronchiectasis Augmentation Elastase Tobacco 


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Copyright information

© Springer International Publishing Switzerland 2016

Authors and Affiliations

  1. 1.Pulmonary, Critical Care, and Sleep, National Jewish HealthDenverUSA

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