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What is alpha-1 antitrypsin deficiency?
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.
What puts you at risk for alpha-1 antitrypsin deficiency?
Your doctor may suspect you have an AAT deficiency if you:footnote 1
- Develop emphysema at 45 years of age or younger.
- Develop emphysema without having any recognized risk factors, such as smoking or inhaling industrial dust or chemical fumes over a long period of time.
- Develop emphysema, and X-rays show less density in the lungs than normal (basilar hyperlucency).
- Develop unexplained liver disease.
- Have a family history of emphysema, bronchiectasis, liver disease, or inflammation of the fat under the skin (necrotizing panniculitis).
- Have bronchiectasis without an evident cause.
Who should be tested?
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 Canadian Thoracic Society recommends testing for an AAT deficiency in people diagnosed with COPD who:footnote 3
- Are younger than 65 years of age.
- Have a smoking history of less that 20 pack years. (To figure out your pack years, multiply how many packs a day on average [assuming 20 cigarettes per pack] you have smoked by how many years you have smoked.)
How is alpha-1 antitrypsin deficiency treated?
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. Prolastin is an example. To be considered for this treatment, you must meet the following guidelines:
- Your blood levels of the alpha-1 antitrypsin enzyme are less than 11 µmol/L (micromoles per litre).
- DNA testing shows that your body does not produce enough of the enzyme or produces an enzyme that does not work properly.
- You do not smoke or have stopped smoking.
- You have difficulty breathing because of COPD or emphysema.
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.
- Marciniuk, DD et al. (2012). Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: A Canadian Thoracic Society clinical practice guideline. Canadian Respiratory Journal, 19(2): 109–116. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373286. Accessed February 12, 2018. [Erratum in Canadian Respiratory Journal, 19(4): 272. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411393. Accessed February 12, 2018.]
Current as of: November 14, 2022
Author: Healthwise Staff
E. Gregory Thompson MD - Internal Medicine
Adam Husney MD - Family Medicine
Ken Y. Yoneda MD - Pulmonology
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