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Lung Disease of Alpha-1 Antitrypsin Deficiency

  • Chapter
Alpha-1 Antitrypsin

Part of the book series: Respiratory Medicine ((RM))

Abstract

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.

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Author information

Authors and Affiliations

  1. Pulmonary, Critical Care, and Sleep, National Jewish Health, 1400 Jackson Street, Denver, CO, 80206, USA

    Robert A. Sandhaus M.D., Ph.D.

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  1. Robert A. Sandhaus M.D., Ph.D.
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Correspondence to Robert A. Sandhaus M.D., Ph.D. .

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Editors and Affiliations

  1. University of Miami Miller School of Medicine, Miami, Florida, USA

    Adam Wanner

  2. National Jewish Health , DENVER, Colorado, USA

    Robert A. Sandhaus

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© 2016 Springer International Publishing Switzerland

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Sandhaus, R.A. (2016). Lung Disease of Alpha-1 Antitrypsin Deficiency. In: Wanner, A., Sandhaus, R. (eds) Alpha-1 Antitrypsin. Respiratory Medicine. Humana Press, Cham. https://doi.org/10.1007/978-3-319-23449-6_6

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  • DOI: https://doi.org/10.1007/978-3-319-23449-6_6

  • Publisher Name: Humana Press, Cham

  • Print ISBN: 978-3-319-23448-9

  • Online ISBN: 978-3-319-23449-6

  • eBook Packages: MedicineMedicine (R0)

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