BORN WITH IT

    
On this page you'll learn:

• Alpha-1 antitrypsin deficiency (AATD) is often incompletely diagnosed as COPD^3-5
• Most patients with AATD face diagnostic delays, with >90% of individuals undiagnosed^5-7
• Testing is the only way to determine whether AATD is the underlying genetic contributor of chronic lung conditions^1,2
• Guidelines recommend testing for AATD in all patients diagnosed with COPD, emphysema, persistently obstructed asthma, or unexplained bronchiectasis^1,2

Nearly all patients with alpha-1 antitrypsin deficiency (AATD) remain undiagnosed⁶

Due to overlapping clinical presentations, AATD is often incompletely diagnosed as COPD^3-5

AATD is a genetic condition characterized by below-normal circulating alpha-1 antitrypsin (AAT) protein levels.¹ In the United States, severe AAT deficiency (≤11 µM) is estimated to affect nearly 100,000 individuals.^8,9 However^5-7:

Testing is the only way to determine whether AATD is the underlying genetic contributor of chronic lung conditions^1,2

Who should be tested for AATD?

ATS/ERS, CHEST/CTS, COPD Foundation, and GOLD recommend testing^1,2,4,10:

• All patients with a diagnosis of COPD
• Other symptomatic individuals:
  • Adult-onset asthma (persistent, incompletely reversible airflow obstruction)
  • Unexplained bronchiectasis
  • Unexplained chronic liver disease
  • Necrotizing panniculitis
  • Granulomatosis with polyangiitis (GPA)
• Asymptomatic individuals with persistent airflow obstruction (especially if they have identifiable risk factors [eg, heavy smoking history or occupational exposures])
• First-degree relatives of patients diagnosed with AATD

Definitions: AAT=alpha-1 antitrypsin; AATD=alpha-1 antitrypsin deficiency; ATS=American Thoracic Society; COPD=chronic obstructive pulmonary disease; CTS=Canadian Thoracic Society; ERS=European Respiratory Society; FEV₁=forced expiratory volume in 1 second; GOLD=Global Initiative for Chronic Obstructive Lung Disease; GPA=granulomatosis with polyangiitis; QoL=quality of life.

References: 1. 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. 2. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. 3. Quinn M, Ellis P, Pye A, Turner AM. Obstacles to early diagnosis and treatment of alpha-1 antitrypsin deficiency: current perspectives. Ther Clin Risk Manag. 2020;16:1243-1255. 4. Global Initiative for Chronic Obstructive Lung Disease (GOLD). GOLD Report. Accessed February 3, 2026. https://goldcopd.org/2026-gold-report-and-pocket-guide/ 5. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha₁-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186. 6. Craig TJ, Corbett ML, Meadows JA. Improving detection of alpha-1 antitrypsin deficiency: role of the allergist. J Allergy Clin Immunol Pract. 2023;11(8):2348-2354. 7. Stoller JK, Brantly M. The challenge of detecting alpha-1 antitrypsin deficiency. COPD. 2013;10(suppl 1):26-34. 8. Lopez MA. Alpha-1 antitrypsin deficiency (AATD). Accessed March 25, 2026. https://www.rarediseaseadvisor.com/disease-info-pages/alpha-1-antitrypsin-deficiency-epidemiology-aatd/ 9. Stoller JK, Tomashefski J Jr, Crystal RG, et al. Mortality in individuals with severe deficiency of α1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest. 2005;127(4):1196-1204. 10. Hernandez P, Bossé Y, Bush P, et al. Alpha-1-antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society meta-analysis and clinical practice guideline. Chest. 2025;167(4):1044-1063. 11. Tejwani V, Nowacki AS, Fye E, Sanders C, Stoller JK. The impact of delayed diagnosis of alpha-1 antitrypsin deficiency: the association between diagnostic delay and worsened clinical status. Respir Care. 2019;64(8):915-922. 12. Meischl T, Schmid-Scherzer K, Vafai-Tabrizi F, et al. The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry. Respir Res. 2023;24(1):34. doi:10.1186/s12931-023-02338-0 13. Demeo DL, Sandhaus RA, Barker AF, et al. Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax. 2007;62(9):806-813.