What is something you would like to know about alpha-1 antitrypsin deficiency?

I decided to take it to the streets (the social media streets that is) and ask people what they would like to know about alpha-1 antitrypsin deficiency as it’s not a well-known illness. Here’s what people wanted to know:

• At what age does it start?
-Johnny Turner
Alpha-1 antitrypsin deficiency is a genetic condition, but isn’t usually checked in infants. The onset of symptoms can start at any age and smoking increases the onset of symptoms. Someone who doesn’t smoke is less likely to show symptoms than someone who smokes. 

• What is it?
-Ashley Oxendine
Alpha-1 antitrypsin deficiency occurs when the liver doesn’t produce enough alpha-1 antitrypsin protein that is made by the liver and helps the lungs function properly. It can cause decrease in lung function, shortness of breath, need of supplemental oxygen and inhalers, as well as other symptoms.

• Can someone have it and the symptoms never manifest? Also, if the symptoms don’t manifest, how does it affect overall health?
-Tabitha Rice
Yes, someone can have alpha-1 antitrypsin deficiency, but never show symptoms. As far as showing symptoms, smoking is a major contributing factor to showing symptoms and further progression of the illness. If symptoms (like shortness of breath) don’t manifest but someone knows they have it, they can go to a pulmonologist to have routine lung function tests to see if they are losing lung function and need to start treatment for alpha-1. It is possible to live a long life with alpha-1 with lifestyle changes and early augmentation therapy for treatment. It’s also possible to have it and not ever experience symptoms depending on lifestyle.

Thank you so much for participating with your questions! I hope you all find this information helpful in learning more about alpha-1 antitrypsin deficiency.

Take care,
​💜Samantha