At 37, can augmentation therapy manage my AATD?

Question

Hello, Doctor,

I am 37 years old female. I was recently diagnosed with Alpha-1 antitrypsin deficiency after years of unexplained breathing issues and repeated chest infections. My next appointment with the pulmonologist is coming up, and I feel unsure what questions are most important beyond asking about medications. I do not want to miss discussing things that could affect long term lung health. Please tell me,

What questions should someone my age ask a pulmonologist after an Alpha-1 diagnosis?
Should I ask specifically about augmentation therapy, family screening, or lifestyle changes?
How often should lung function be checked to track progression and prevent further damage?

Kindly help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and can understand your concern.

It is good that your diagnosis has been made early, because early diagnosis can help in managing and treating your condition much better.

I would recommend discussing the following points with your doctor:

Get genetic testing or genotype analysis for alpha 1 antitrypsin deficiency, because different genotypes can affect the lungs and liver in different ways.
Check the blood levels of alpha 1 antitrypsin to assess the severity of the deficiency.
Get an HRCT thorax done, as it can show the current condition of your lungs and the extent of lung damage caused by the disease.
Perform lung function tests, which help assess:

Airflow in the lungs.
Oxygen transfer from the lungs into the blood.
The degree of lung impairment, if present.
Spirometry should ideally be done at least once every 6 months to monitor lung function over time.

Augmentation therapy can definitely help in certain phenotypes of alpha 1 antitrypsin deficiency. I would also recommend discussing inhalers containing dual bronchodilators such as LABA (long-acting beta-2 agonists) and LAMA (long-acting muscarinic antagonists) with your doctor, as they may improve breathing symptoms.

You can also help prevent further lung damage by:

Avoiding smoking, second hand smoke, and pollution as much as possible.

Follow your prescribed treatment regularly and strictly.
Maintaining a healthy diet, regular exercise, and pulmonary rehabilitation.
Taking recommended vaccines, especially:
Influenza vaccine.
Pneumococcal vaccine.
COVID vaccine.

I would also strongly suggest that close family members get screened for the same condition, since alpha 1 antitrypsin deficiency is a genetic disorder.

You should seek immediate medical attention if you develop worsening symptoms such as:

Severe breathlessness.
Fever.
Chest pain.
Bluish lips or fingers.
Sudden worsening of cough or oxygen levels.

I hope this information helps you.

Feel free to ask further queries.

Thank you.