What is Alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency, commonly referred to as Alpha -1, is an inherited genetic condition that can be passed from parents to their children. People with Alpha-1 have low levels of a protein called AAT, which protects the lungs. In Europe and the United States, about 100,000 people in each country are affected by Alpha-1.

Alpha -1 can cause emphysema (the air sacs in your lungs are damaged), cirrhosis of the liver (scarring in the liver), and panniculitis (a rare skin condition that can make the skin feel hard, painful, red, or darker in some areas).

It gets worse over time. Although there is no cure for Alpha-1, treatment can help some symptoms. Most people with Alpha-1 can have a normal lifespan, especially if they don’t smoke.

Lung symptoms: Lung symptoms often look like those of chronic obstructive pulmonary disease (COPD), such as:

  • Chronic cough with phlegm
  • Wheezing
  • Shortness of breath
  • Repeated chest colds

Liver symptoms:

  • Skin and eyes turning yellow (jaundice)
  • Fatigue
  • Swelling of the stomach

Sometimes, people can have an uncommon skin condition, panniculitis. It may look like painful, red bumps that can move around your body and can rupture and leak pus or fluid.

The lungs of people with Alpha-1 can be damaged because their blood lacks a protein called alpha-1 antitrypsin (AAT). That protein is made in the liver and protects the lungs from swelling when they are exposed to tobacco smoke or other irritants. Without that protection in the lungs, they can become damaged after inhaling irritants.

The liver of people with Alpha-1 can be damaged when AAT can’t be released from the liver at a
regular rate. It can build up in the liver and cause liver disease.

Alpha-1 is most common among people with a European or North American family line. But other racial or ethnic groups can also get Alpha-1. People who are more likely to develop Alpha- 1 are those who have parents with low levels of the AAT protein.

When someone has Alpha-1, certain things can increase the risk of developing lung disease.

  • Smoking
  • Exposure to second-hand smoke
  • Having a family history of emphysema or asthma
  • Having repeated lung infections
  • Living or working in dusty areas

Talk to your doctor about testing if you think you may have Alpha-1, you have symptoms, or if you or your family members have a history of liver or lung disease. Your doctor can do a blood test to check the level of AAT protein in your blood and genetic testing to identify gene mutations.

Regular pulmonary function tests (PFTs) are recommended to monitor lung function. Liver function tests and imaging studies may be necessary to assess liver health.

Augmentation Therapy:

  • Donated blood with normal levels of Alpha-1 can be given to you by IV to increase the levels in the blood and lungs, aiming to slow lung disease. This is mostly for people with emphysema due to Alpha-1.

Treatment of Symptoms:

  • Bronchodilators and inhaled corticosteroids: used to manage lung symptoms and improve lung function.
  • Oxygen Therapy: may be necessary for people with low oxygen in their blood.

Lifestyle Changes:

  • Stopping smoking: smoking speeds up damage to your lungs. It is important to keep trying to quit smoking, even if you have not been successful in the past.
  • Vaccinations: Influenza (flu) and pneumococcal (pneumonia) vaccinations are recommended to prevent lung infections.
  • Pulmonary rehabilitation can help you live and breathe better. It’s a supervised medical program that can help you gain strength, make it easier to work or go to social activities, and also reduce depression and anxiety.

Liver Disease Management:

  • Your doctor will want to check in with you regularly to watch for liver problems. In advanced cases, a liver transplant may be considered.

New Therapies and Research:

  • Gene therapy and innovative drug options are being researched as possible future treatments for alpha-1.

Don’t be afraid to ask your doctor questions. Talking with your doctor and understanding Alpha- 1 can help you get the best care possible. Here are some questions to ask your doctor, but make sure to ask questions about anything you do not understand.

  • Should I have testing for Alpha-1?
  • What options do I have for treatment?
  • What other health conditions should I know about?
  • Can I continue to work and engage in activities I enjoy?
  • How can I quit smoking?
  • When should I schedule a follow-up doctor’s visit?
  • Should my family members get an AAT blood test?
  • How can I talk to my family members about Alpha-1?

You cannot prevent Alpha-1 because it’s a genetic disease. But, you can lower your risk of getting liver or lung disease if you have Alpha-1.

  • Do not smoke or vape.
  • Avoid alcohol.
  • Avoid anything that can irritate your lungs, like chemicals, dust, and other allergens.
  • Get regular exercise.
  • Eat a healthy diet.

Where can I find out more?

The Alpha-1 Foundation
The American Lung Association
Alpha-1 Europe Alliance
European Lung Foundation
Alpha-1 Association of Australia

Citations:

  1. What is Alpha-1? Alpha-1 Foundation. Accessed October 14, 2024. https://alpha1.org/what-is-alpha1/
  2. Alpha-1 Antitrypsin Deficiency – How It Works (video). Alpha-1 Foundation. Accessed October 14, 2024. https://vimeo.com/247506044
  3. Alpha-1 Antitrypsin Deficiency. Cleveland Clinic. Accessed October 14, 2024.
    https://my.clevelandclinic.org/health/diseases/21175-alpha-1-antitrypsin-deficiency
  4. Dermatopathology Evaluation of Panniculitis. National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health. Accessed October 14, 2024. https://www.ncbi.nlm.nih.gov/books/NBK606121/
  5. Pulmonary Rehabilitation. National Heart, Lung and Blood Institute. Accessed October 14, 2024. https://www.nhlbi.nih.gov/health/pulmonary-rehabilitation
  6. Alpha-1 Antitrypsin Deficiency – Symptoms and Causes. Pennmedicine.org. Published 2022. Accessed November 4, 2024. https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/alpha-1-antitrypsin-deficiency
  7. American Lung Association. Learn About Alpha-1 Antitrypsin Deficiency. Lung.org. Published 2024 Accessed November 4, 2024. https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/learn-about-alpha-1-antitrypsin-defiency
  8. American Lung Association. Alpha-1 Antitrypsin Deficiency Symptoms, Causes and Risk Factors. Lung.org. Published 2024. Accessed November 4, 2024. https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency/symptoms-diagnosis
  9. Causes – Alpha-1 Foundation. Alpha-1 Foundation. Published July 13, 2023. Accessed November 4, 2024. https://alpha1.org/about-alpha-1-causes/
  10. American Lung Association. Alpha-1 Antitrypsin Deficiency: Answers to 5 Frequently Asked Questions. Lung.org. Published 2023. Accessed November 4, 2024. https://www.lung.org/blog/alpha-1-deficiency-faqs
  11. Attaway A, Majumdar U, Sandhaus RA, Nowacki AS, Stoller JK. An analysis of the degree of concordance among international guidelines regarding alpha-1 antitrypsin deficiency. International Journal of COPD. 2019;Volume 14:2089-2101. doi:https://doi.org/10.2147/copd.s208591
  12. Izaguirre DE. Alpha1-Antitrypsin (AAT) Deficiency Guidelines: Guidelines Summary. Medscape.com. Published May 29, 2024. Accessed November 4, 2024. https://emedicine.medscape.com/article/295686-guidelines?form=fpf