How can a 40-year-old manage alpha-1 antitrypsin deficiency?

Question

Hi doctor,

I am a 40-year-old female. I never smoked, but I have been having shortness of breath and wheezing. My pulmonary function tests were abnormal, and my alpha-1 antitrypsin level came back low at 50 mg/dL. I had no idea this could affect women, too. Could this be why my lungs feel older than they are? How is this managed in women, especially if I want to stay active?

Please suggest.

Answer 1

Hi,

I am glad you chose icliniq.com for your medical-related queries.

I understand your concern.

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that affects both men and women, though it is often underrecognized, especially in non-smokers like yourself. AAT is a protein that protects the lungs from damage caused by inflammation. When levels are very low (like your 50 mg/dL), the lungs can become vulnerable to early-onset emphysema, even without smoking. That very well explains your shortness of breath and wheezing, and why your lungs feel ‘older’ than they should.

In women, AATD can sometimes be diagnosed later because symptoms are mistaken for asthma or general fatigue, and because historically, most research has focused on male patients. But the disease progression and lung damage can be just as significant in women, especially if left untreated.

Management usually includes:

Inhalers (bronchodilators and corticosteroids) to relieve symptoms.
Augmentation therapy, which is IV (intravenous) infusion of purified alpha-1 antitrypsin protein (usually weekly), to slow down lung damage, especially if you have established emphysema and low levels like yours.
Pulmonary rehabilitation and a customized exercise plan to help you stay active safely.
Vaccinations (flu, pneumonia, COVID-19, or coronavirus disease) to reduce the risk of infections.
Avoiding lung irritants like dust, fumes, and secondhand smoke.

It is also important to work with a pulmonologist who specializes in AATD and to get genetic counseling if family planning is on your radar or if you have children, since it is hereditary.

Hope I have solved your query.

I will be happy to help you further.

Thank you.