Does one Alpha-1 gene mean low lung health risk at 48?

Question

Hello doctor,

I hope you are doing well.

I am a 48-year-old female who just found out through genetic testing that I have one alpha-1 antitrypsin gene. My pulmonologist summarized the impact in a few words, but I'd need a more direct explanation of how this may affect my health.

Sometimes I feel a little short of breath when I climb stairs, which I have usually thought was due to my fitness level. I also used to smoke socially in my twenties and thirties, which I regret now.

Can you tell me if being a single gene carrier at my age means I have a low long-term risk to my lung health?
Does my past smoking make my risk much higher than someone who never smoked but has the same gene?
Would you suggest regular lung function checks, or is being a single gene carrier usually low risk enough that I don’t need special follow-up?

Please help.

Thank you for your time and help.

Answer 1

Hello,

Welcome back to icliniq.com

If you have one abnormal gene for Alpha-1 Antitrypsin Deficiency, you are considered a carrier. Most of the time, this does not cause serious lung problems because your body still makes enough of the protective protein. As a result, your long-term risk to lung health is usually low.

However, this is not the same as having two normal genes. There is a slight reduction in lung protection, making external factors such as smoking more relevant. Since your smoking was occasional and you have quit, there is some added risk, but it is not significantly elevated. The most important positive factor is that you no longer smoke.

Your mild shortness of breath when climbing stairs may be due to common deconditioning. Given your background, it is prudent to evaluate this rather than assume it is only due to fitness.

A baseline spirometry test is a reasonable next step. If results are normal, repeating the test every one to two years is sufficient. At this stage, no intensive or specialized follow-up is needed.

Your mild shortness of breath when climbing stairs may be due to common deconditioning. Given your background, it is prudent to evaluate this rather than assume it is only due to fitness.

I hope this addresses your concerns. Please feel free to follow up if you have any further questions.

Thank you.