← Return to Alpha-1 Antitrypsin Deficiency - just been diagnosed

Discussion

Alpha-1 Antitrypsin Deficiency - just been diagnosed

Lung Health | Last Active: Oct 11 1:10pm | Replies (53)

Comment receiving replies
@colleenyoung

Hi Discerning, I moved your post to this existing discussion group so you can meeting others living with Alpha-1 Antitrypsin Deficiency, like @nancyjac @sakota @windwalker @marty1996 @lindayoungquist and others.

You may also be interested in these related discussions:
- COPD: Is it genetic? alpha-1 antitrypsin deficiency https://connect.mayoclinic.org/discussion/copd-is-it-genetic/
- Alpha-1 Antitrypsin Deficiency: Is it considered autoimmune? https://connect.mayoclinic.org/discussion/alpha-1/

How did you discover that you have this genetic deficiency? How does it affect your lung health?

Jump to this post


Replies to "Hi Discerning, I moved your post to this existing discussion group so you can meeting others..."

Hi discovered I had Alpha 1 Antitrypsin Deficiency via a blood test. First I had a CT lung scan, as I was having shortness of breath on exertion and a little cough which had lasted about two years. (This seemed to start up with the first COVID confinement.) The CT scan showed bronchiectasis and it was recommended I consult a lung specialist. He ordered a big range of blood tests. The AAT deficiency showed up there. Then I had another blood test which confirmed the genotype ZZ (which I guess is the worst case scenario). However I''m 69 years old, never smoked and my spirometer test showed my breathing is normal. A specialist doctor in Paris reviewed my case and his team thinks I should be monitored by a specialist, but for now, no need to start Augumentation therapy (in which they inject the enzyme that is low). I gather this is a hereditary condition. My father died at 70 of lung cancer--but he had smoked for much of his life and been exposed to radiation during WW2. I am interested if anyone else has a case similar to mine. I am still pretty shocked by the diagnosis.