What Every COPD Patient Should Know
About Alpha-1 Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency
(AAT Deficiency or Alpha-1) is one of the most common serious
hereditary disorders in the world and can result in life-threatening
liver disease in children and adults or in lung disease in adults.
Alpha-1 has been identified in virtually all populations. An
estimated 100,000 Americans and a similar number in Europe have the
Alpha-1 is widely under-diagnosed and misdiagnosed.
than 10% of those predicted to have Alpha-1 have been diagnosed--it often
takes an average of three doctors and seven years from the time symptoms
first appear before proper diagnosis is made.
Alpha-1 can be detected by a simple finger- stick blood test.
Alpha-1 is more prevalent than Cystic Fibrosis (CF). An estimated 25
million people in the U.S. are undetected carriers of an abnormal gene
that causes Alpha-1 and may pass the gene on to their children.
research suggests that some Alpha-1 Carriers may be at risk for lung
and/or liver disease.
Alpha-1 can lead to lung destruction and is often misdiagnosed as
asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD).
disease is the most frequent cause of disability and early death among
affected persons – striking in the prime of life -- and a major reason for
The World Health
Organization (WHO) recommends that all individuals with COPD be tested for
Alpha-1 test kits
may be obtained by calling
1-877- 2 CURE A1 (228-7321).
This test may be administered at home or by your physician. The
physician’s contact information
completed on the test card and the results will be mailed only to that
physician. Your test results will be part of your permanent medical
free of charge
and available by calling the Alpha-1 Research Registry
These tests may be administered at home and the results will be
directly to you.
individuals considering testing need to understand the potential benefits
and risks involved in genetic screening.
This is called informed consent. Please refer to the
Alpha-1” brochure for details.
This information provided by:
See these other articles in our library:
What is Alpha-1 ?
An Article by our staff based on
U.S.National Heart, Lung and Blood Institute (NHLB)