Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Sep;22(9):101-111.
doi: 10.1007/s11882-022-01036-z. Epub 2022 May 20.

Alpha-1 Asthma Overlap Syndrome: a Clinical Overview

Affiliations
Review

Alpha-1 Asthma Overlap Syndrome: a Clinical Overview

Manuel Izquierdo et al. Curr Allergy Asthma Rep. 2022 Sep.

Abstract

Purpose of review: Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases that is associated with severe complications and yet remains underdiagnosed. The pulmonary symptoms of both AATD and asthma include cough, excessive sputum production, dyspnea, and wheezing. These symptoms overlap significantly leading to difficulty distinguishing between these two conditions and suspicion that there may be an overlap syndrome. We aim to discuss the pathophysiology, clinical manifestations, and treatment of both alpha-1 antitrypsin and asthma and how they may overlap.

Recent findings: Recent literature suggests that there is an association between asthma and AATD. This association has been hypothesized to be secondary to an imbalance of elastase and anti-elastase leading to a pro-inflammatory state in patients with AATD. This review serves to overview the pathophysiology, clinical manifestations, and treatment of alpha-1 antitrypsin, asthma, and the increasingly recognized intersection of the two, AATD-asthma overlap syndrome.

Keywords: AAT; AATD; Alpha-1 antitrypsin deficiency; Alpha-1 asthma overlap syndrome; Asthma.

PubMed Disclaimer

References

    1. de Serres FJ, Blanco I, Fernandez-Bustillo E. Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet. 2003;64:382–97. - PubMed - DOI
    1. Strnad P, McElvaney NG, Lomas DA. Alpha1-antitrypsin deficiency. N Engl J Med. 2020;382:1443–55. - PubMed - DOI
    1. Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha1-antitrypsin deficiency. Eur Respir J [Internet]. 2017;50. Available from: https://www.ncbi.nlm.nih.gov/pubmed/29191952 .
    1. Willis-Owen SAG, Cookson WOC, Moffatt MF. The genetics and genomics of asthma. Annu Rev Genomics Hum Genet. 2018;19:223–46. - PubMed - DOI
    1. Ferkol T, Schraufnagel D. The global burden of respiratory disease. Ann Am Thorac Soc. 2014;11:404–6. - PubMed - DOI

MeSH terms

Substances