How to manage alpha-1 antitrypsin deficiency PiZZ type?

Question

Hello doctor,

I was recently diagnosed with alpha-1 antitrypsin deficiency (AAT) after experiencing frequent shortness of breath and occasional wheezing, even though I have never smoked. My genetic test showed I have the PiZZ (alpha 1 antitrypsin protease inhibitor ZZ) genotype, and my AAT level is 35 mg/dL. My spirometry showed an FEV1 (forced expiratory volume is the volume of air an individual can exhale from the lungs during a forced breath over a specified duration in seconds) of 78 % of predicted, and my chest CT revealed early emphysema. As a singer, my lung capacity is crucial for my career.

Will this condition significantly impact my ability to perform?
My doctor mentioned augmentation therapy, but I am unsure if I need it yet.
Also, my latest liver function tests showed mildly elevated bilirubin and ALT (alanine aminotransferase) (ALT: 85, AST: 78). Should I be worried about liver disease?
Is there anything I can do to prevent further damage?

Please help.

Thank you.

Answer 1

Hi,

Welcome to icliniq.com.

I understand your concerns about alpha-1 antitrypsin deficiency (AATD) and its implications for your lung and liver health.

Occupation and risk of progression:

Dusty environments: Your occupation, which involves working in dusty environments, may exacerbate your lung disease and increase the risk of progression.
Personal protective equipment (PPE): Ensure you wear proper PPE, including masks and respirators, to minimize dust inhalation.

Augmentation therapy:

Augmentation therapy benefits: Augmentation therapy involves intravenous infusions of alpha-1 antitrypsin (AAT), which may slow disease progression and improve lung function.
Eligibility and discussion: Discuss your eligibility for augmentation therapy with your pulmonologist, considering factors like your FEV1 (forced expiratory volume is the volume of air an individual can exhale from the lungs during a forced breath over a specified duration in seconds), genotype, and overall health.

Liver health and lifestyle changes:

Elevated liver enzymes: Monitor your liver enzymes regularly, as AATD can increase the risk of liver disease.
Lifestyle changes:

a. Adopt a healthy lifestyle to minimize liver damage:

b. Maintain a healthy weight.

c. Exercise regularly.

d. Avoid excessive alcohol consumption.

e. Eat a balanced diet rich in fruits, vegetables, and whole grains.

Family history and cirrhosis risk: Given your family history of cirrhosis, it is essential to be proactive about your liver health.

Next steps:

Regular monitoring: Schedule follow-up appointments with your pulmonologist to monitor your lung function and adjust your treatment plan as needed.
Augmentation therapy discussion: Discuss augmentation therapy with your pulmonologist to determine if it is right for you.
Lifestyle changes and liver health monitoring: Implement healthy lifestyle changes and regularly monitor your liver enzymes to minimize the risk of complications.

You are taking proactive steps to manage your AATD. Stay informed, and do not hesitate to reach out to your healthcare team with any concerns.

I hope I have answered your question.

Let me know if I can assist you further.

Thank you.