~90% of patients with genetic COPD due to alpha-1 are estimated to be undiagnosed1,2
Established clinical organizations recommend screening all COPD patients for alpha-1.3-7 Screening all of your COPD patients for alpha-1 is recommended by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) and the World Health Organization (WHO), as well as the following organizations3-7:
It's important to screen ALL patients with COPD for alpha-1, regardless of age, smoking history, and FEV1 decline
The ATS recommends screening regardless of age, smoking history, or FEV1, as well as testing5:
- All adults with symptomatic COPD, regardless of smoking history
- All adults with symptomatic emphysema, regardless of smoking history
- All adults with symptomatic asthma whose airflow obstruction is incompletely reversible after bronchodilator therapy
- Asymptomatic patients with persistent obstruction on pulmonary function tests and with identifiable risk factors (eg, smoking, occupational exposure)
- Immediate family members of individuals with alpha-1
Screening all patients with COPD for alpha-1 can help detect those at increased risk for lung disease.2-5
Genetic COPD due to alpha-1 shares many of the same symptoms as COPD
COPD describes multiple lung diseases, including emphysema and chronic bronchitis.4,6 Alpha-1 is often not diagnosed because its symptoms are similar to those of COPD and asthma4,5,8:
- Dyspnea
- Decreased exercise tolerance
- Wheezing
- Persistent cough
- Excess sputum production
- Frequent lower respiratory tract infections
Genetic COPD due to alpha-1 and COPD also share many of the same diagnostic tools used to identify them, including9:
- Presentation of symptoms
- Spirometry
- Diffusing capacity
- Chest x-rays
- Chest CT
- Blood gas
Only genetic screening can detect alpha-1.9
COPD, chronic obstructive pulmonary disease; FEV1, forced expiratory volume in 1 second.
References:
- Alpha-1 Foundation. Grifols launches educational campaign: look into genetic COPD. https://www.alpha1.org/Alphas-Friends-Family/Resources/News/ArtMID/5952/ArticleID/7792/Grifols-launches-educational-campaign-Look-into-Genetic-COPD. Published February 28, 2018. Accessed November 5, 2019.
- 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.
- Global Initiative for Chronic Obstructive Lung Disease. Pocket guide to COPD diagnosis, management, and prevention. https://goldcopd.org/wp-content/uploads/2018/11/GOLD-2019-POCKET-GUIDE-DRAFT-v1.7-14Nov2018-WMS.pdf. Accessed November 7, 2019.
- World Health Organization. α1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ.1997;75(5):397-415.
- 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.
- CHEST Foundation. Learn about alpha-1 antitrypsin deficiency. https://foundation.chestnet.org/patient-education-resources/alpha-1-antitrypsin-deficiency/. Accessed November 3, 2019.
- 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.
- National Organization for Rare Disorders. Alpha-1 antitrypsin deficiency. https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/. Accessed November 4, 2019.
- Data on file. Alpha-1 Genetics Laboratory.