Alpha-1 Antitrypsin Deficiency
- Kelly Vazquez
- Nov 29
- 4 min read
It's a diagnosis with a lot of words.
Have you ever heard of it?
If you work in pulmonology or gastroenterology, then you have.
OR
If you have had any interaction with me over the last few years (thanks everyone for your patience while I went on and on about my dissertation topic), then yes, you also have :)
But if you don't typically live in those speciality spaces or are lucky enough not to be trapped in a conversation with me on any given day, then maybe this is the first time that you've heard of it.
So, why are we talking about it?
November is COPD Awareness Month.
COPD stands for chronic obstructive pulmonary disease and is a progressive lung disease that encompasses chronic bronchitis and emphysema. Typical causes of COPD include inhalation of noxious fumes (i.e., smoking that accounts for over 70% of cases, occupational exposures, or environmental exposures) causing permanent, irreversible damage.
COPD is the third leading cause of death worldwide.
But did you know there is a form of COPD that is genetic?
There is.
And it's related to Alpha-1 antitrypsin deficiency (AATD).
November is ALSO Alpha-1 Awareness Month.
So what is AATD?
AATD is a deficiency of the alpha-1 protein, a protein produced by the liver. You inherit one alpha-1 gene from each parent (autosomal co-dominant). If one of these inherited proteins are mishaped, it can lead to alpha-1 protein confinement in the liver. If the protein is trapped in the liver, then it cannot reach the bloodstream to travel to the lungs where it serves as a protectant by reducing damage-causing neutrophils, thus reducing risks of diseases such as COPD.
An explanation of Mendelian inheritance regarding potential genotypes from the Alpha-1 Foundation is below:
The MM allele combination produces an adequate amount of the alpha-1 protein.
The ZZ allele combination is the most likely to cause severe disease.
The alpha-1 antitrypsin protein was originally discovered over 50 years ago.
Yup. We've known about this for a long time, folks!
Despite this, the underdiagnosis of AATD is well documented in the literature.
This is a worldwide issue.
AATD is the most common rare disease.
Of people who are expected to have AATD, only 5-15% of those people have been identified.
AATD is believed to cause 2-3% of COPD cases.
It is possible to have one abnormal allele that does not lead to disease, but there are approximately 1.3 million people worldwide who have allele combinations that do.
Now, I could go on and on about allele combinations, statistics, ongoing underdiagnosis, what percentage of cases lead to liver or lung disease, augmentation therapy, the incredible importance of smoking cessation for people who have AATD, genetic counseling, or the potential genetic variants (spoiler alert: there are over 200!)
But no, not today. The purpose of this very brief article is to increase your awareness.
I couldn't let Alpha-1 Awareness Month pass by without doing so!
If you or a family member have been diagnosed with early-onset COPD, especially if you have never smoked, consider getting screened for AATD - it's a simple blood test in your doctor's office or a buccal swab from the Alpha-1 Foundation.
But in reality, it is a good idea for ANY person who has been diagnosed with COPD to be screened for AATD at least once-it could completely change your treatment plan.
You can get free screening through the Alpha-1 Foundation.
This is an excellent organization that has done A LOT of work to increase awareness and research for AATD.
This is the link to their website --------> https://alpha1.org
As we close out the month of the November, I continue to be grateful for research for COPD, Alpha-1, and lung cancer that helps me better care for my patients who suffer from many types of lung disease...the fight continues!
Happy last day of November, everyone!
(Please be advised that this blog post is not meant to provide medical advice. Please consult with your doctor.)
References:
Alpha-1 Foundation. (n.d.). Alpha-1 Antitrypsin Deficiency. alpha-1.org
da Costa, C. H., Filho, A. J., Silva, R., da Cruz, T. F., de Oliveira Monteiro, V., Pio, M., & Rufino, R. L. (2019). Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary? Biomedical Center Research Notes, 12(1), 10. . https://doi.org/https://doi.org/10.1186/s13104-018-4043-9
Greulich, T., Nell, C., Herr, C., Vogelmeier, C., Kotke, V., Wiedmann, S., Wencker, M., Bals, R., & Koczulla, A. R. (2016, Jun 10). Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015. Orphanet Journal of Rare Diseases, 11(1), 75. https://doi.org/10.1186/s13023-016-0453-8
Gurevich, S., Daya, A., Da Silva, C., Girard, C., & Rahaghi, F. (2020). Improving screening for alpha-1 antitrypsin deficiency with direct testing in the pulmonary function testing laboratory. Chronic Obstructive Pulmonary Disease. https://doi.org/10.15326/jcopdf.2020.0179
Sorroche, P. B., Fernandez Acquier, M., Lopez Jove, O., Giugno, E., Pace, S., Livellara, B., Legal, S., Oyhamburu, J., & Saez, M. S. (2015). Alpha-1 antitrypsin deficiency in COPD patients: A cross-sectional study. Archivos de Bronconeumologia 51(11), 539-543. https://doi.org/10.1016/j.arbres.2015.01.008
Stoller, J. K. (2016). Detecting alpha-1 antitrypsin deficiency. Annals of the American Thoracic Society, 13 Suppl 4, S317-325.
Stoller, J. K. (2020). Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency. . UptoDate. https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-natural-history-of-alpha-1-antitrypsin-deficiency
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