Is it safe to get pregnant with Alpha-1 condition?

Question

Hello Doctor,

I am 37 years old and was recently diagnosed with Alpha-1 antitrypsin deficiency with the PiZZ genotype. I am currently experiencing mild dyspnea on exertion, and a recent CT (Computed tomography) scan of the chest revealed panacinar emphysema localized in the lower lobes of my lungs.

My alanine aminotransferase (ALT) level is mildly elevated at 56 U/L, and there is a family history of liver disease; my father passed away due to cirrhosis.

I am planning to conceive within the next year. I would like to know:

Will this condition likely worsen during pregnancy?
Is Alpha-1 antitrypsin augmentation therapy (Human alpha-1 proteinase inhibitor – Plasma-derived protein replacement therapy) considered safe during the time of trying to conceive (TTC) and during pregnancy?

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I have read your query and can understand your concern.

A person with Alpha-1 antitrypsin deficiency (AATD) and panacinar emphysema, especially when evident on a computed tomography (CT) scan, can plan for pregnancy. However, it is essential to undergo a comprehensive pre-pregnancy assessment and counseling.

The presence of emphysema, particularly when involving the lower lobes of the lungs, indicates a significant degree of respiratory impairment, which may be exacerbated during pregnancy. Therefore, a careful evaluation of the risks and benefits, along with proactive disease management, is necessary to ensure a safe and healthy pregnancy for both the mother and the baby.

Alpha-1 antitrypsin deficiency (AATD) should be approached cautiously and considered on a case-by-case basis, given the potential risks involved. While many women with AATD have had successful pregnancies, others may experience complications such as hepatic dysfunction, worsening respiratory symptoms, preterm birth, or pre-eclampsia. Close monitoring and coordinated care by a multidisciplinary medical team, including a pulmonologist, hepatologist, and obstetrician, are strongly recommended.

It is also important to consider the elevated alanine aminotransferase (ALT) level and the family history of cirrhosis, which may suggest underlying liver involvement requiring further evaluation before conception.

Regarding treatment, augmentation therapy, which involves intravenous infusions of purified Alpha-1 antitrypsin (Plasma-derived protein replacement therapy), can generally be continued during the trying-to-conceive (TTC) period. This therapy is the standard of care for managing AATD-related emphysema. Available evidence indicates that it may be used safely during pregnancy, and in some cases, has been associated with improved pulmonary function during gestation.

I hope this helps.

Thank you.