How can the AATD PiSZ type be treated, and the lungs be protected?

Question

Hello doctor,

For the past few years, I have had a persistent cough and worsening shortness of breath, especially when working in dusty environments. I was recently diagnosed with alpha-1 antitrypsin deficiency, and my AAT level came back at 55 mg/dL. My genetic test showed I have the PiSZ protease inhibitor S (PiS) and protease inhibitor Z (PiZ) genotype. My pulmonologist mentioned that this puts me at an increased risk of lung disease, even though I have never smoked.

My spirometry showed an FEV1 (forced expiratory volume, which measures the amount of breath the person can exhale) of 65% of predicted, and my CT (computed tomography) scan revealed mild emphysema. I also have slightly elevated liver enzymes (ALT (alanine aminotransferase): 70, AST (aspartate aminotransferase): 65).

Does my occupation put me at a higher risk of progression?
Should I be on augmentation therapy?
Also, my father passed away from cirrhosis. I am worried about my liver. What lifestyle changes can I make to prevent complications?

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, will 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, which involves intravenous infusions of alpha-1 antitrypsin (AAT), 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 measures the amount of breath the person can exhale), 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:

Adopt a healthy lifestyle to minimize liver damage:
Maintain a healthy weight.
Exercise regularly.
Avoid excessive alcohol consumption.

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 regular 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's 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.

I hope I have answered your question. Let me know if I can assist you further.

Thank you.