What is Alpha-1 Antitrypsin Deficiency?

​Have you heard of alpha-1 antitrypsin deficiency, but not sure what it is?

• Alpha-1 antitrypsin is a protein that the liver makes that helps the lungs function properly.
• If your body doesn't make enough of the protein, you have alpha-1 antitrypsin deficiency.

How do you get diagnosed with alpha-1 antitrypsin deficiency?

• Your doctor, mos likely a pulmonologist (a lung specialist), can order a blood test to see how much alpha-1 antitrypsin protein your body has. Depending on your level that comes back and your genotype (MZ, ZZ, etc.), you could be diagnosed with alpha-1 antitrypsin deficiency. Once your doctor gets the results back, the may order a CT scan and lung function test to determine how your lungs look and are functioning. This will allow them to establish a baseline for you and repeat these tests in the future to see if there is a decline in function and appearance.

What are signs and symptoms of alpha-1 antitrypsin deficiency?

• Shortness of breath
• Decline of lung function in short amount of time
• Year round allergies
• Chronic bronchitis and/or chest colds and producing phlegm for a long period of time
• Wheezing
• Unable to exercise for a long period of time

Treatment options for alpha-1 antitrypsin deficiency

• ​Augmentation therapy: weekly infusions of alpha-1 antitrypsin protein
• Inhalers and other medications for breathing
• Supplemental oxygen

You can learn more about alpha-1 antitrypsin deficiency from Samantha’s upcoming book Living with Alpha-1 Antitrypsin Deficiency, which details her mom’s/family’s journey of the illness along with medical information. It will be published by Hatherleigh Press and distributed by Penguin Random House on August 27, 2019 and you can preorder today!

Take care,
💜Samantha Bowick