This blog post was authored by Katie Keating, RN, MS, and reviewed by the Bronchiectasis and NTM Content Review and Evaluation Committee.

Alpha-1 antitrypsin deficiency disease (also termed alpha-1) is a rare disorder that is often mentioned at patient conferences for bronchiectasis/nontuberculous mycobacteria lung disease (NTM) patients. However, this condition is not understood by many patients. An estimated 100,000 people are affected by alpha-1 within the United States. Alpha-1 can be linked to bronchiectasis.¹ It is important, therefore, to occasionally consider ruling out this condition when a person notes ongoing respiratory issues.

Bronchiectasis results in swelling of the airways and an increased chance to develop repeat or chronic respiratory infections.² The most common diseases associated with bronchiectasis are COPD, acute bronchitis, post-inflammatory fibrosis, and genetic disorders including alpha-1.³

Alpha-1 occurs when there is a lack of a protein in the blood known as alpha-1 antitrypsin (AAT). This protein is produced by the liver. In this condition, the liver cannot secrete this protein at the normal rate, and it collects in the liver resulting in less AAT in the blood. An increase in this protein in the liver can cause liver disease, and a decrease in this protein in the blood can lead to lung disease. The function of AAT in the blood is to protect the lungs from damage to the airways and air sacs caused by infection and other damaging irritants such as cigarette smoke, respectively.⁴

How alpha-1 impacts the lungs:

• Breathlessness
• Wheezing
• Cough (with or without sputum production)
• Frequent flare-ups (exacerbations)

Alpha-1 affects the liver as well. Frequent symptoms include the skin having a yellowish appearance (jaundice), the belly appearing swollen, and vomiting or passing of blood.⁴

Who should be tested?

• All patients diagnosed with chronic bronchitis, bronchiectasis, NTM, COPD, or emphysema
• Individuals with unexplained liver disease
• Individuals with a family history of COPD or liver disease
• People with granulomatosis with polyangiitis (GPA). GPA is a disorder that causes inflammation of the blood vessels in the nose, sinuses, throat, lungs, and kidneys.⁶
• Necrotizing panniculitis (inflammation in fat beneath the skin) that causes the skin to harden and form painful red lumps and patches.⁶

Testing for alpha-1 is a simple blood or mouth swab test. Treatments and preventive measures may slow the disease process. Early diagnosis can assist a person with alpha-1 to consider lifestyle changes that could improve their quality of life. To get tested for alpha-1 a person can ask for testing to be done by their health care provider or they can test confidentially (without a prescription through the Alpha-1 Coded Testing (ACT) Study. This type of free testing is available through the Alpha-1 Foundation. For more information, call (877) 228-7321, ext. 245.⁴

Genetic counselor services are also available at the Alpha-1 Foundation to provide information and support to patients, caregivers, and healthcare professionals.⁷

The Journal of the COPD Foundation offers the following recommendations for alpha-1 testing. When a patient has ongoing respiratory symptoms, it is better to eliminate all the commonly associated diagnoses of bronchiectasis/NTM. Preventative care is far better than dealing with damaged lungs and ongoing treatments. It is generally recommended that if you have COPD or bronchiectasis, that you get tested for alpha-1.⁸ It can lead to the worsening of bronchiectasis, NTM, and other issues. As always, it is far wiser to be proactive than reactive.

References:

1. The Alpha-1 Story, Bronchiectasis News Today. Date published, October 25, 2017. Date accessed, October 30^th, 2022. https://bronchiectasisnewstoday.com/2017/10/25/alpha-1-story
2. Eden E, Choate R, Barker A, et al. The Clinical Features of Bronchiectasis Associated with Alpha-1 Antitrypsin Deficiency, Common Variable Immunodeficiency and Primary Ciliary Dyskinesia--Results from the U.S. Bronchiectasis Research Registry. Chronic Obstr Pulm Dis. 2019;6(2):145-153. doi:10.15326/jcopdf.6.2.2018.0156
3. 3. Weycker D, Hansen GL, Seifer FD. Prevalence and incidence of noncystic fibrosis bronchiectasis among US adults in 2013. Chron Respir Dis. 2017;14(4):377-384. doi:10.1177/1479972317709649
4. Alpha-1 Foundation. What is Alpha-1? Version 4.2, https://www.alpha1.org/Alpha1/wp-content/uploads/2019/09/Alpha1Brochure.pdf Published August 2019. Accessed October 30th, 2022.
5. Mayo Clinic. Granulomatosis with polyangiitis. https://www.mayoclinic.org/diseases-conditions/granulomatosis-with-polyangiitis/symptoms-causes/syc-20351088 Published December 2020. Accessed October 2022.
6. Alpha-1 Foundation. 20 Tough Words. https://www.alpha1.org/alphas-friends-family/education/20-tough-words/ Published January 2020. Accessed October 2022.
7. Alpha-1 Foundation. What is Alpha-1. https://www.alpha1.org/what-is-alpha1 Published October 2022. Accessed October 2022.
8. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016; 3(3): 668-682. doi: http://doi.org/10.15326/jcopdf.3.3.2015.0182