COPD? ASTHMA? EMPHYSEMA?
It Could Also Be AAT Deficiency – Rule It Out!
If you are one of the millions suffering with chronic obstructive pulmonary disease (COPD), emphysema, or asthma, it's important to find out for sure if you have the complete diagnosis.1
You could be one of the estimated 100,000 people who has AAT deficiency.2*
Alpha-1 Antitrypsin (AAT) Deficiency
Is Often Misdiagnosed
The symptoms of AAT deficiency are often the same as COPD, asthma and emphysema. But AAT deficiency is different–it's inherited.1 People with AAT deficiency have low levels or are lacking a naturally occurring lung-protecting protein called alpha1 antitrypsin (AAT). Without AAT, people are at higher risk for developing lung diseases such as emphysema.1
Finding out whether AAT deficiency is the cause of your lung disease is important. An accurate diagnosis is the first step in making appropriate medical and lifestyle decisions for you and your family.
Should You Be Tested for AAT Deficiency?
AAT deficiency testing recommendations from the American Thoracic Society/European Respiratory Society (ATS/ERS)3:
Testing is recommended for the following conditions/situations:
- Symptomatic adults with emphysema, chronic obstructive pulmonary disease (COPD), or asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators. (Notably, in populations where the prevalence of AAT deficiency is known to be much lower than the general North American and Northern European prevalence, a Type B recommendation for diagnostic testing in this setting is offered.)
- Individuals with unexplained liver disease, including neonates, children, and adults, particularly the elderly
- Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (e.g., cigarette smoking, occupational exposure)
- Adults with necrotizing panniculitis
- Siblings of an individual with AAT deficiency
Testing should be discussed with your physician for the following conditions/situations*:
- Adults with bronchiectasis without evident etiology
- Adolescents with persistent airflow obstruction
- Asymptomatic individuals with persistent airflow obstruction and no risk factors
- Adults with C-ANCA-positive (antiproteinase 3-positive) vasculitis
- Individuals with a family history of COPD or liver disease not known to be attributed to AAT deficiency
- Distant relatives of an individual who is homozygous for AAT deficiency
- Offspring or parents of an individual with homozygous AAT deficiency
- Siblings, offspring, parents, or distant relatives of an individual who is heterozygous for AAT deficiency
*This is not a complete list. Please refer to the ATS/ERS standards for complete information.
The test will either accurately diagnose you with AAT deficiency, in which case you can better manage your health, or it will rule out AAT deficiency as a cause of your symptoms altogether. For more information about signs and symptoms of AAT deficiency—and what to do about it—talk to your doctor.
- American Lung Association. COPD Fact Sheet. http://www.lung.org/lung-disease/copd/resources/facts-figures/COPD-Fact-Sheet.html.
- Campbell EJ. Alpha1-antitrypsin deficiency: incidence and detection program. Respir Med. Aug 2000;94 Suppl C:S18-21.
- American Thoracic S, European Respiratory S. 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. Oct 1 2003;168(7):818-900.
*Not all individuals with AAT deficiency will develop symptomatic emphysema.