How to deal with alpha-1 antitrypsin deficiency in the 30s?

Question

Hi doctor,

I am 33 and just found out I have alpha-1 antitrypsin deficiency after years of thinking my breathing problems were just asthma. My level came back at 35 mg/dl, which my pulmonologist says is severely low and explains why I have had so many lung infections. The scary part is I am 16 weeks pregnant with my first baby, and really worried about how this will affect my pregnancy and the baby.

My shortness of breath has gotten much worse since the second trimester started, and I can barely walk up one flight of stairs without getting winded. I've been using an albuterol inhaler four to five times daily, but it does not help much anymore. My liver enzymes are also elevated, with ALT at 78 U/L and AST at 65 U/L, which my doctors think is related to the alpha-1 antitrypsin deficiency. The genetic counselor said there is a 25 % chance my baby could have this condition too if my husband is a carrier. My oxygen saturation drops to 88% when I lie flat, which makes sleeping really difficult. Can alpha-1 antitrypsin deficiency cause complications during delivery? Should I be getting augmentation therapy while pregnant or wait until after birth?

Thanks.

Answer 1

Hi,

Welcome to icliniq.com

I can understand your concern

I can imagine how frightening this must feel. Navigating pregnancy for the first time while learning you have severe AAT (alpha-1 antitrypsin deficiency) is a lot to carry. With your AAT level at 35 mg/dL, it makes sense why you have had frequent infections and now more shortness of breath, and pregnancy itself can put added strain on your lungs and liver. This condition can sometimes complicate pregnancy and delivery, especially if oxygen levels are low, since both you and the baby depend on an adequate oxygen supply. Falling oxygen saturations below 90 percent are concerning, and it is very important that your care team, pulmonology, obstetrics, and hepatology work closely together. Augmentation therapy with intravenous AAT is generally considered safe in pregnancy and has been used when maternal symptoms are significant, but the decision depends on balancing your respiratory status, infection risk, and the availability of the treatment.

It is not something that should wait if your breathing is worsening, as protecting your lung function and maintaining good oxygenation are vital for both you and your baby. During delivery, low lung reserve can make labor more challenging, so your doctors may plan closer monitoring, supplemental oxygen, and possibly even a tailored anesthesia approach if a C-section becomes necessary. The elevated liver enzymes should also be watched carefully, as liver involvement can progress in some women with AAT deficiency. Regarding your baby, the genetic risk depends on whether your husband is a carrier, so genetic testing for him could help clarify your baby’s chances.

For now, make sure you use supportive measures like sleeping propped up to reduce drops in oxygen, avoid respiratory irritants, get vaccinated against infections, and keep in very close touch with your doctors. You are not alone in this; many women with alpha-1 antitrypsin deficiency have had safe pregnancies with the right multidisciplinary care, and the goal is to protect both your health and your baby’s well-being every step of the way.

I hope this information will help you.

Thanks.