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Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. It helps protect the lungs from the damage caused by inflammation that can lead to emphysema and chronic obstructive pulmonary disease (COPD). People whose bodies do not produce enough of this protein (AAT deficiency) are more likely to develop emphysema and to do so at a younger-than-normal age (30 to 40 years old). AAT deficiency is a rare disorder and is the only known genetic (inherited) factor that increases your risk of developing COPD.
Your doctor may suspect you have an AAT deficiency if you:footnote 1
An AAT deficiency test measures the level of AAT in the blood. The Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2017 clinical guidelines recommend a one-time testing for all people with COPD.footnote 2 And the American Thoracic Society and the European Respiratory Society recommend testing for an AAT deficiency for people who have:footnote 1
Screening for an AAT deficiency in the general public is not currently recommended.footnote 1
It is extremely important that you do not smoke if you have an AAT deficiency. Smokers with this condition may suffer devastating disease at a young age. People with this condition who have never smoked usually do not have significant symptoms at any age.
Treatment for COPD may include medicines to help you breathe easier. It may also include pulmonary rehabilitation. This means learning exercise, eating, and breathing tips and other ways to help yourself stay as healthy and strong as you can. And your doctor may suggest that you have injections of man-made alpha-1 antitrypsin protein (also called an alpha-1 proteinase inhibitor) that has been obtained from human plasma. Examples include Aralast, Prolastin, and Zemaira. To be considered for this treatment, you must meet the following guidelines:
Injections of replacement alpha-1 antitrypsin are given either weekly or every 2 to 4 weeks. Benefits of the therapy are not clear at this time.
American Thoracic Society/European Respiratory Society (2003). ATS/ERS: Standards for the diagnosis and management of individuals with alpha1-antitrypsin deficiency. American Journal of Respiratory and Critical Care Medicine, 168(7): 820–822.
Global Initiative for Chronic Obstructive Lung Disease (2017). Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. http://goldcopd.org/gold-2017-global-strategy-diagnosis-management-prevention-copd. Accessed November 27, 2016.
Current as of: December 9, 2019
Author: Healthwise StaffMedical Review: E. Gregory Thompson MD - Internal MedicineAdam Husney MD - Family MedicineKen Y. Yoneda MD - Pulmonology
Current as of: December 9, 2019
E. Gregory Thompson MD - Internal Medicine & Adam Husney MD - Family Medicine & Ken Y. Yoneda MD - Pulmonology
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