AAT deficiency lacks a distinctive clinical presentation1,2
Alpha1-antitrypsin (AAT) deficiency shares an almost identical clinical presentation of signs and symptoms with COPD (which includes emphysema, asthma, and chronic bronchitis)2-4:
In addition, AAT deficiency and COPD share many of the same evaluative tools, including spirometry, diffusing capacity, chest x-rays, chest CT, and blood gas.5
AAT deficiency is a hereditary condition and cannot be identified or diagnosed by physical examination alone.1,2 Alpha-1 should be ruled out even if the COPD patient has a smoking history.1
Diagnostic delays are common
Individuals may wait 8 years and visit 3 providers between their first symptom (most commonly, dyspnea) and a positive diagnosis of AAT deficiency.6
Identifying AAT deficiency can be improved by performing routine screening tests for every COPD patient in your practice.7
Genetic testing is required to detect and diagnose AAT deficiency.7
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- Stoller JK. Myths and misconceptions about α1-antitrypsin deficiency. Arch Intern Med. 2009;169(6):546-550.
- American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
- National Organization for Rare Disorders. Alpha-1 antitrypsin deficiency. https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/. Accessed April 27, 2023.
- Lascano JE, Campos MA. The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency. Postgrad Med. 2017;129(8):889-895.
- Data on file, Alpha-1 Genetics Laboratory.
- Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. CHEST. 2005;128(3):1179-1186.
- Brantly M. Campos M, Davis AM, D’Armiento J, et al. Detection of alpha-1 antitrypsin deficiency: the past, present and future. Orphanet J Rare Dis. 2020;96(15):1-10.