A clear connection between COPD and AAT deficiency
Alpha1-antitrypsin (AAT) deficiency, also called alpha-1 or genetic COPD, is a relatively common but widely underdiagnosed inherited condition that increases the risk of early onset COPD and of liver disease.2-4 AAT deficiency is the most common genetic risk factor for COPD, a highly prevalent, debilitating lung condition.1,5
COPD in the United States:
- Affects 1 in 8 people aged 45 and older5
- Prevalence of ~16 million6
- 4th leading cause of death5
AAT deficiency is not rare; it is rarely diagnosed3
The estimated prevalence of AAT deficiency:
- ~16 million Americans have COPD6
- ~15% of patients have at least 1 abnormal allele and could be at increased risk of COPD and liver disease4,7
- ~1 in 100 have a severe alpha-1 deficiency8
- ~90% of people with AAT deficiency remain undiagnosed8
Patients with deficient alleles may be more common than you think9
Approximately 1 in 7 patients with COPD or treatment-resistant asthma have at least 1 deficient allele7
~90% of patients with AAT deficiency are undiagnosed8
AAT deficiency is underrecognized10
Three lines of evidence demonstrate that AAT deficiency is widely underrecognized10:
~ 90% Undiagnosed
Despite a prevalence estimate of >100,000 individuals with severe AAT deficiency in the US, approximately 90% are undiagnosed3,8
Not Following the Guidelines
Low adherence to clinical guidelines that recommend screening all COPD and treatment-resistant asthma patients for AAT deficiency regardless of age, smoking history, ethnicity, or FEV1 status10,11
Many patients experience 8 years of delay between onset of symptoms and accurate diagnosis2,3,10
Benefits of increasing detection and early diagnosis of AAT deficiency10
- Identifies carriers of AAT-deficient alleles, which can be passed on to children10
- Identifies those with severe AAT deficiency so available treatment options may be considered for appropriate patients10
- Provides incentive for smoking cessation12
- In a follow-up study, 59% of patients with severe alpha-1 attempted to quit smoking after receiving test results and minimal counseling12
There are lifestyle modifications and FDA-approved treatment options for patients with severe AAT deficiency
Up Next: Pathophysiology of Alpha-1
FEV1, forced expiratory volume in 1 second.
- Silverman EK. Genetics of COPD. Annu Rev Physiol. 2020 February 2020;82:413-431. doi:10.1146/annurev-physiol-021317-121224.
- Campos MA, Wanner A, Zhang G. Sandhaus RA. Trends in the diagnosis of symptomatic patients with a1-antitrypsin deficiency between 1968 and 2003. CHEST. 2005;128(3):1179-1186.
- Stoller JK. Myths and misconceptions about a1-antitrypsin deficiency. Arch Intern Med. 2009; 169(6): 546-550.
- Stoller JK, Aboussouan LS. A review of alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3): 246-259.5. National Heart, Lung, and Blood Institute.
- National Heart, Lung, and Blood Institute. COPD National Action Plan. https://www.nhlbi.nih.gov/health-topics/education-and-awareness/COPD-national-action-plan. Accessed September 20, 2023.
Centers for Disease Control and Prevention. Chronic Obstructive Pulmonary Disease (COPD). https://www.cdc.gov/copd. Accessed November 2, 2023.
Data on file. Alpha-1 Genetics Laboratory.
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.
de Serres FJ. Environ Health Perspect. 2003;111(16):1851-1854.
- Stoller JK. Detecting alpha-1 antitrypsin deficiency. Ann Am Thorac Soc. 2016;13(Suppl3): S317-S325.
- 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.
- Carpenter MJ, Strange C, Jones Y, et al. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007;33(1):22-28.