Can an AATD PiMZ carrier parent pass it to their children?

Question

Hello doctor,

I am a 45-year-old female who was recently diagnosed with alpha-1 antitrypsin deficiency after undergoing tests for persistent shortness of breath. My doctor determined that I have the PiMZ genotype, with an AAT level of 72 mg/dL. I was told I am a carrier, but I do not fully understand what that means. A CT scan showed mild emphysema, but my lung function (FEV1: 85% of predicted) remains within the normal range. I have never smoked, but I grew up in a household where both my parents were heavy smokers. Could secondhand smoke have contributed to this? Am I at high risk of my lung disease progressing?

Additionally, my liver enzymes (ALT: 60, AST: 55) are slightly elevated, does this indicate a risk of developing liver disease? Should my siblings or children get tested, even though I am not PiZZ?

Please advise.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

As a PiMZ carrier (a carrier of alpha-1 antitrypsin deficiency), you have one normal gene and one deficient gene. While your risk is lower than that of a PiZZ individual, you still have some risk for lung and liver issues. Secondhand smoke likely contributed to your emphysema. It is important to avoid all lung irritants to protect your respiratory health. Although your lung disease may progress, the risk is lower if you take preventive measures. Regular lung function tests, exercise, and staying up to date on vaccinations can help maintain lung health.

Mildly elevated liver enzymes may indicate early liver involvement. It is advisable to follow up with liver function tests and possibly an ultrasound. Avoid alcohol and fatty foods to reduce strain on your liver. Your siblings should consider genetic testing, as they may be PiMZ or PiZZ. Your children only need testing if their other parent carries a Z gene.

At this stage, you do not need augmentation therapy. However, monitoring your lung function and following up with a pulmonologist if symptoms worsen is recommended.

I hope I have addressed your concerns. Feel free to reach out if you have further questions or need additional guidance.

Wishing you good health.

Thank you