I have PiZZ AATD. Should I get LFT and PFT regularly?

Question

Hello doctor,

I am 42 and recently tested positive for PiZZ alpha-1 antitrypsin deficiency after a routine workup for chronic shortness of breath. My AAT level was 22 mg/dL. HRCT showed early emphysematous changes in the lower lobes. I have never smoked, but my brother, who also tested PiZZ, is asymptomatic. I am looking for your suggestions on:

Should I start augmentation therapy right away, or can it be delayed?
Is there any risk of liver involvement, and should liver function tests be monitored regularly?
How often should pulmonary function tests be done, and are there clinical trials or registries I can participate in?

Kindly suggest.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

Thank you for your query. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs from inflammation and damage. When this protein is deficient, it can lead to damage to the lung parenchyma. The PiZZ variant is the most severe form of AAT deficiency and can progress rapidly. You are not a smoker, which is great, as it will contribute to slowing down the disease progression. Let me brief you on what augmentation therapy is.

The deficient AAT protein is given intravenously to increase the levels of the protein in the blood in order to protect the lungs from further damage. You need to understand that this is not curative and it will not reverse the existing lung damage. It only helps in slowing the progression.

Given your condition, particularly with the PiZZ variant, I would recommend augmentation therapy. You have picked up the disease early, and it may be beneficial in slowing the disease progression. However, to get maximum benefit, this needs to be combined with lung rehabilitative measures, bronchodilators, and supplemental oxygen, if needed.

The possibility of liver involvement is also high with PiZZ. It can cause hepatitis or cirrhosis and ultimately increase the risk for malignancy. Monitor liver function tests (LFTs) once every year. Imaging of the liver or fibroscan once in a few years to assess the liver parenchyma. Avoid alcohol and liver-toxic drugs.

A baseline pulmonary function test is required now to assess the current lung function. You can repeat it once every six months. If you are on augmentation therapy, monitoring it periodically helps monitor the response to therapy. You are doing the right thing by seeking help early and keeping yourself well informed, and this goes a long way toward managing your condition effectively.

Please feel free to follow up if you have any questions. Wishing you good health.

I hope this helps.

Thank you.