Does alpha-1 antitrypsin deficiency affect my lung function?

Question

Hello doctor,

I just got diagnosed with alpha-1 antitrypsin deficiency after years of being told I have asthma. My lung function is getting worse even though I do not smoke. The doctor said I might qualify for augmentation therapy. What is that exactly, and does it really slow down lung damage? Additionally, are there any new gene therapies being developed for this condition? Is this condition also affecting my liver?

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

Alpha-1 antitrypsin deficiency is a genetic condition that can indeed cause lung damage, often mistaken for asthma or chronic obstructive pulmonary disease. Your diagnosis after years of symptoms is important for guiding appropriate treatment. Augmentation therapy involves intravenous infusions of purified alpha-1 antitrypsin protein derived from donor blood. This treatment aims to raise the levels of alpha-1 antitrypsin in your blood and lungs, helping to slow the progression of lung damage by protecting lung tissue from harmful enzymes. Clinical studies suggest it can reduce the decline in lung function, but it is not a cure and does not reverse existing damage.

Regarding gene therapy, ongoing clinical trials are exploring this approach as a potential future treatment for apha-1 antitrypsin deficiency. These experimental therapies aim to correct the underlying genetic defect, but they are not yet widely available or approved. Finally, Alpha-1 antitrypsin deficiency can also affect the liver, because abnormal alpha-1 antitrypsin proteins can accumulate and cause liver inflammation or damage. Regular monitoring of your liver function is important as part of your overall care. I recommend discussing augmentation therapy eligibility and further management options with a specialist experienced in alpha-1 antitrypsin deficiency. Meanwhile, it is crucial to avoid smoking and other lung irritants and to maintain regular follow-up.

I hope you are satisfied with my answer. For further queries, you can consult me at iCliniq.

Thank you.