How can we treat my husband's A1ATD effectively at 34?

Question

Hello doctor,

My 34-year-old husband was just diagnosed with alpha-1 antitrypsin deficiency after years of coughing, wheezing, and fatigue. He is a non-smoker, but his lung function is already reduced. Please tell me,

What treatment options are available to slow lung damage?
How effective is augmentation therapy?
Should we be concerned about potential liver complications in the future?

Kindly help.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and can understand your concern.

Alpha-1 Antitrypsin (A1AT) protein protects your lungs against infections by degrading protease enzymes produced by the immune system in response to external triggers, such as infection, allergic agents, smoking, etc. It is inherited in an autosomal recessive manner. If you inherit one abnormal gene, the levels of the enzyme will be mildly to moderately reduced. and the disease complication would also be mild to moderate. Similarly, if both copies of the gene are abnormal, the deficiency would be absolute or severe, and the disease would also be severe.

A1AT deficiency would affect your husband, depending on the enzyme levels. The nature of the deficiency will determine the status of your husband’s alpha-1 antitrypsin deficiency. However, your husband should follow the steps mentioned below;

He should never smoke or get into a smoking environment.
He should wear a mask while going outdoors to avoid environmental pollution.

Please send me a new, high-resolution computed tomography (HRCT) report of your current lung status.

Lifestyle changes such as,

Regular exercise would provide good aeration for the lungs, which improves lung capacity and reduces risks of infections.

Please send me your current diagnostic workup data or further evaluation. Treatment options include

Replacement of enzymes in severe conditions.
Aggressively treat lung infections.
Use of bronchodilators, liver tonics, steroids, and oxygen inhalation.
Augmentation therapy has been done for a long time by increasing the levels of AAT in the blood. In this procedure, AAT is donated to increase the levels of AAT. This therapy is required once a week and is done through infusion.

Additionally, it may affect the liver depending on its blood levels. Gene mutations that alter the shape of A1AT slow down its translocation from the liver. Accumulation occurs in that location and can result in the formation of scars. Due to its inability to exit the liver, it remains confined and cannot migrate to the circulation or lungs. Your husband should get liver enzyme tests done and send the reports.

I hope this information helps you.

Feel free to ask further queries.

Thank you.