Early Signs of Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency (A1AD)? Author Samantha Bowick has written articles revolving around important questions and information about A1AD. She also wrote Living with Alpha-1 Antitrypsin Deficiency with her mom Marie Bowick, who is an A1AD patient. Their new book, coming out August 27, 2019, offers the most up-to-date information on this illness.

Early Signs of Alpha-1 Antitrypsin Deficiency

More than 100,000 individuals in the U.S. suffer with alpha-1 antitrypsin deficiency (A1AD), a rare genetic, incurable disease which causes the liver to not produce a certain protein which protects and keeps the lungs functional. What are the early signs to look out for?


Alpha-1 antitrypsin deficiency (A1AD) is a genetic illness that affects breathing in those who suffer with it. It occurs when alpha-1 antitrypsin protein levels are too low. Alpha-1 antitrypsin is produced by the liver and helps lungs function properly.


In those who have A1AD, their oxygen saturation may be lower than normal, they may get sick easier, have weaker immune systems, and/or need supplemental oxygen depending on how the illness has progressed. Remember everyone is different.


Here are 7 signs that someone may have A1AD and should consult a pulmonologist:

1. Oxygen saturation level is below normal during any part of the day

2. Decline in lung function in short period

3. Difficulty breathing/shortness of breath/wheezing

4. Chronic bronchitis/chest colds/chronic allergies

5. Difficulty performing activities due to physical exertion

6. Mucus production that may or may not cough up on its own

7. It runs in your family

Note: Anyone who suffers with A1AD do not necessarily have all of the symptoms.


For more articles and information on A1AD, please click here.


Samantha Bowick has a Master of Public Health degree from Liberty University. She received a Bachelor of Science degree in Health Care Administration at Columbia Southern University. She is devoted to using her education and experiences to advocate for women who suffer with endometriosis and other chronic illnesses. She is the author of Living with Endometriosis. She currently lives in Aiken, South Carolina.

Marie H. Bowick has lived in Aiken, South Carolina her entire life, and was diagnosed with A1AD at 46 years old. She has been married for 27 years and is the mother of two daughters. She worked in manufacturing for 15 years and then became a caregiver to her mother, father, and youngest brother.