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Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency

Update: 2025-03-10
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Description

A is for alpha-1-antitrypsin! Jody reviews this maybe-not-so-rare genetic disorder that is an important and often overlooked cause of mostly lung and liver disease.

References:

1) Stoller, J.K. Clinical manifestations, diagnosis, and natural history of alpha-1-antitrypsin deficiency. UpToDate. https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-natural-history-of-alpha-1-antitrypsin-deficiency

2) Hogarth, D. K. Alpha-1-antitrypsin deficiency. Epocrates. https://www.epocrates.com/online/diseases/1075/alpha-1-antitrypsin-deficiency#highlights-basics

3) Alpha-1-antitrypsin level test. Lippincott Advisor. https://advisor.lww.com/lna/document.do?bid=5&did=1336317&searchTerm=alpha-1-antitrypsin&hits=antitrypsin,alpha

4) Endobronchial Valve Therapy (American Lung Association)

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Alpha-1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency

Jody Marks, MSN, AGACNP-BC, FNP-BC