Can hormonal changes during period affect AATD symptoms?

Question

Hello doctor,

I am a 35-year-old non-smoker recently diagnosed with alpha-1 antitrypsin deficiency (AATD), following recurrent respiratory infections and noticeable shortness of breath, particularly after mild physical activity. My serum AAT level was measured at 42 mg/dL, while my immunoglobulin A (IgA) levels remain within normal limits.

Additionally, I have observed increased breathlessness correlating with my menstrual cycles. Could hormonal fluctuations be exacerbating my respiratory symptoms?

A recent CT scan revealed mild basilar emphysema. Given these findings, I am interested in understanding the criteria for initiating augmentation therapy, such as with Prolastin or Zemaira, especially in women presenting with mild symptoms.

Furthermore, I have concerns about how AATD and its management might impact future pregnancy plans. I would appreciate your insights on balancing effective treatment with reproductive health considerations.

Please help.

Thank you for your guidance.

Answer 1

Hi,

Welcome to icliniq.com.

I completely understand your concern.

Hormonal fluctuations, especially during menstruation, can indeed influence symptom severity in individuals with alpha‑1 antitrypsin deficiency (AATD), a protective protein produced by the liver. It helps regulate enzymes like neutrophil elastase that, if left unchecked, can harm lung tissue. AATD is a genetic condition caused by mutations in the gene, resulting in low or dysfunctional AAT. AATD may affect lung and liver health, and changes in hormones can heighten inflammation, potentially impacting lung function or increasing liver-related risks.

Both Prolastin-C and Zemaira are alpha‑1 antitrypsin augmentation therapies used to treat emphysema (a chronic, progressive lung disease marked by damage to the alveoli, tiny air sacs responsible for oxygen exchange). This damage results in reduced elasticity, over-inflation of the lungs, and difficulty exhaling air, linked to severe AAT deficiency. Prolastin‑C comes as a ready-to-use formulation, while Zemaira is another well-established option. These therapies aim to boost AAT levels in the lungs, helping protect against further damage, particularly in basilar emphysema.

Regarding fertility and pregnancy, AATD can have complex effects. Research indicates that low AAT levels are associated with higher risks of complications such as spontaneous abortion, preterm birth, and conditions like preeclampsia (typically develops after 20 weeks of pregnancy, marked by high blood pressure and often protein loss in the urine). Although the complete picture is still evolving, monitoring during pregnancy is advisable.

I hope this helps.

Kindly revert if there is any query.