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I Just Received My Test Results From 23andme.com. It Shows

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Posted on Thu, 13 Jun 2019
Question: I just received my test results from 23andme.com. It shows genetic deficiencies. One variant was found in the serpina1 gene showing an AAT deficiency. However, it said since only of the two variants was missing, I am "not likely at risk for symptoms of AAT deficiency". But two years ago, a CT found bronchiectasis. Oddly, the bronchiectasis was not apparent on the CT one year later. I have been having occasional bouts of shortness of breath. I do seem to improve after taking Claritin, thinking it is allergy related. Even though it said I am not likely at risk for AAT symptoms, could AAT deficiency be causing my SOB and occasional cough? 5 years ago I did test positive for for very mild asthma. I have used my inhaler just twice n the 5 years.
doctor
Answered by Dr. Drkaushal85 (4 hours later)
Brief Answer:
Better to keep watch on PFT readings annually.

Detailed Answer:
Thanks for your question on Ask a doctor forum.
I can understand your concern.
By your history and description, you might be having milder form of Alpha 1 Antitrypsin deficiency.
Your symptoms like Shortness of breath and occasional cough can be due to this deficiency.
Best way to identify disease progression is by keeping watch on PFT readings annually.
Also get done annual CT thorax.
Start chest physiotherapy and deep breathing exercises for better lung health.
Hope I have solved your query. I will be happy to help you further. Wish you good health. Thanks.
Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
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Follow up: Dr. Drkaushal85 (15 hours later)
Since I am not making enough AAT to protect the lungs, would it make sense to nebulize colloidal silver or possibly use Sinu Orega which is a nose spray with oregano?
doctor
Answered by Dr. Drkaushal85 (9 hours later)
Brief Answer:
You can use at your own risk.

Detailed Answer:
Thanks for your follow up question on Ask a doctor forum.
I can understand your concern.
Honestly speaking, all these are not medically approved.
So I will not comment on this.
But you can use at your own risk.
I will be happy to help you further. Wish you good health. Thanks.
Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
Answered by
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Dr. Drkaushal85

Pulmonologist

Practicing since :2008

Answered : 15005 Questions

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I Just Received My Test Results From 23andme.com. It Shows

Brief Answer: Better to keep watch on PFT readings annually. Detailed Answer: Thanks for your question on Ask a doctor forum. I can understand your concern. By your history and description, you might be having milder form of Alpha 1 Antitrypsin deficiency. Your symptoms like Shortness of breath and occasional cough can be due to this deficiency. Best way to identify disease progression is by keeping watch on PFT readings annually. Also get done annual CT thorax. Start chest physiotherapy and deep breathing exercises for better lung health. Hope I have solved your query. I will be happy to help you further. Wish you good health. Thanks.