1. < Lung Health

Alpha-1 Antitrypsin Deficiency - just been diagnosed

Posted by nancyjac @nancyjac, Aug 18, 2018

We recently moved to Florida so I've had to find new doctors. I went to a new pulmonary doctor who was very thorough. After reviewing my pulmonary function tests and asking me questions about my family history etc. He suspected that I have something called Alpha 1. They did a blood test and called me ten days later and told me that I the blood work came back indicating that I have Alpha-1. They gave me a brochure with various web sites that I've gone on in an attempt to learn more about the disease. Is there a discussion group here about Alpha-1? I would really like to be able to be in a discussion group with folks who have been diagnosed with Alpha-1 to learn more about it. Thanks!

Interested in more discussions like this? Go to the Lung Health Support Group.

Moderator
Colleen Young, Connect Director | @colleenyoung | Feb 13, 2022
In reply to @discerning1 "I've just been diagnosed with this genetic defect--which certainly explains my situation. Is there a discussion..." + (show)
@discerning1

I've just been diagnosed with this genetic defect--which certainly explains my situation.
Is there a discussion group here (or elsewhere) for people in the same boat?

Jump to this post

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?

REPLY
1 reply
discerning1 | @discerning1 | Mar 2, 2022
In reply to @colleenyoung "Hi Discerning, I moved your post to this existing discussion group so you can meeting others..." + (show)
@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

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.

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raisanicole | @raisanicole | May 10, 2023
In reply to @nancyjac "Thank you Colleen. I had not seen the two Mayo Clinic web sites. I will take..." + (show)
@nancyjac

Thank you Colleen. I had not seen the two Mayo Clinic web sites. I will take a look.
I had seen a pulmonary doctor in Maryland numerous times and was hospitalized several times with pneumonia. I had asthma and was diagnosed with Emphysema when I was in my mid-30's. My mother was also diagnosed with Emphysema at an early age. Alpha-1 was never mentioned to me before by any doctors. Once we moved to Florida, I was having more trouble breathing so I went to a pulmonologist six weeks ago. After hearing my history of frequent pneumonia and early on set of Emphysema he thought I might have Alpha-1 and so he had me tested for it.

I have an appointment with him next week. They need to do some follow up tests. The nurse had difficulty getting enough blood from the finger pricks to completely fill the circles on the test strip. I got a call from his office telling me that I do have it, All I know at this point is that I tested positive for it and now they need to have further testing. I guess that is to determine the GENOTYPE AND LEVEL etc as Bill mentioned below. I know very little at this point and hope to learn more. Thank you everyone! Nancy Jacobs

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Alpha 1 carrier here. Not all labs are experienced in testing for Alpha 1. I have 4 totally different lab readings, and a lot of confusion. I suggest you do testing directly with the Alpha 1 organization. They are based at thr University of Florida. Dr Mark Brantly is a super expert on the topic. They are retesting me again (#6) to get to the real genotype.

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natureisgreat | @natureisgreat | May 11, 2023

I had always known that my family lungs were an issue, most of the older generation were diagnosed with emphysema (without smoking) or COPD. I was out in a field of grass and came home dizzy, felt like I was leaning to one side when I walked. Mentioned it to my doctor and she knew I had hayfever, she ordered a blood test, and I came up with Alpha 1. That explained the family lungs! I went along several years (perhaps 15?) until lung congestion started to get worse. I'm now on inhalers and managing ok. I have told my family so they could get tested.

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otterbein79 | @otterbein79 | Oct 7 7:22pm
In reply to @nancyjac "I very obviously have much to learn here. I was under the impression that it wouldn't..." + (show)
@nancyjac

I very obviously have much to learn here. I was under the impression that it wouldn't become a problem unless you were a smoker. I'm thankful that none of our daughters or their husbands smoke. Can it be an issue if they have never smoked? Sounds like I need to talk to a genetic counselor once I receive all the information from the testing.

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I am a ZZ Alpha who never smoked and I am at 60% lung volume. Even if you have only one affected gene you can be symptomatic. It is not correct to call them a carrier.

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otterbein79 | @otterbein79 | Oct 7 8:01pm
In reply to @discerning1 "I've just been diagnosed with this genetic defect--which certainly explains my situation. Is there a discussion..." + (show)
@discerning1

I've just been diagnosed with this genetic defect--which certainly explains my situation.
Is there a discussion group here (or elsewhere) for people in the same boat?

Jump to this post

Are you MZ or ZZ? What is your Alpha 1 level?

REPLY
1 reply
otterbein79 | @otterbein79 | Oct 7 8:07pm
In reply to @nancyjac "Our three children are in their late 30's and early 40's. Thankfully, none of them have..." + (show)
@nancyjac

Our three children are in their late 30's and early 40's. Thankfully, none of them have ever smoked. I already know that we are going to have a hard time convincing them that they should be tested. I broached the subject with them before I knew what my levels were and they think I am being an alarmist. They've never heard of Alpha -1 and like many "children" they think they know better than their mother and father. The fact that I have a terrible time walking up stairs or walking any distance doesn't seem to phase them. At this point I'm more worried about our grandchildren who range in age from six to nineteen.

Has anyone seen any information on how to convince reluctant adult"children" to get tested?

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I wish I did. I am a ZZ Alpha and I can’t convince anyone to get tested

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otterbein79 | @otterbein79 | Oct 7 8:15pm
In reply to @waterboy "I was told my Dr Patel in Rochester, I probably would have gotten COPD even if..." + (show)
@waterboy

I was told my Dr Patel in Rochester, I probably would have gotten COPD even if I didm't smoke... perhaps later and less agressive. Test test test

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Your doctor is correct.I am a never-smoker ZZ Alpha with COPD

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discerning1 | @discerning1 | Oct 8 6:47am
In reply to @otterbein79 "Are you MZ or ZZ? What is your Alpha 1 level?" + (show)
@otterbein79

Are you MZ or ZZ? What is your Alpha 1 level?

Jump to this post

I am ZZ. My lung doctor in France tells me my lung capacity is normal for my age (72) but I do feel short of breath when I dash up the stairs.

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otterbein79 | @otterbein79 | Oct 11 12:46pm

What is your lung capacity?

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