I'm 40, female with AATD. Are infusions necessary?

Question

I am a 40-year-old woman recently diagnosed with Alpha-1 Antitrypsin Deficiency. I have been experiencing shortness of breath for some time and was told that my lungs are being progressively damaged. I do not smoke, but I still struggle with wheezing and fatigue. I have a few questions:

Are there any specific treatments available to slow the progression or protect my lungs?
Should I consider infusions or enzyme replacement therapy?
Do I need to make any major lifestyle or dietary changes?

I am concerned about the long-term effects on both my lungs and liver. Please help.

Thank you in advance.

Answer 1

Hi,

Welcome to icliniq.com.

I read your query and can understand your concern.

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can lead to progressive lung damage, even in non-smokers, and may also affect the liver in some cases. Since you are already experiencing symptoms like shortness of breath, wheezing, and fatigue, it is important to take steps to slow lung deterioration.

One of the main disease-specific treatments is augmentation therapy. This involves weekly infusions of alpha-1 antitrypsin protein (a protective enzyme that helps prevent lung tissue damage), which is derived from human plasma. These infusions can help raise the levels of this enzyme in your blood and lungs, potentially slowing the decline in lung function.

We can determine if you are a candidate for this therapy based on your AAT (alpha-1 antitrypsin) levels and lung function tests. If you have already done these tests, kindly share the results with me.

In addition to medical treatment, it is essential to avoid all lung irritants such as cigarette smoke, dust, and environmental pollutants. Staying up to date with vaccinations, especially for influenza (flu), pneumococcal infections (pneumonia), and COVID-19, is important to reduce the risk of respiratory infections.

You may also benefit from pulmonary rehabilitation (a supervised exercise and education program designed to improve breathing and physical stamina). While there is no specific diet for AATD, maintaining a healthy weight, eating anti-inflammatory foods (like fruits, vegetables, nuts, and fatty fish), and limiting alcohol, especially if your liver is affected, can be beneficial.

Regular liver monitoring is important, as AATD can lead to liver damage over time. With the right management plan and lifestyle adjustments, many people with AATD are able to lead active, fulfilling lives. Be sure to stay in regular follow-up care.

I hope this helps.

Kindly revert so I can assist you further.

Thank you.