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Alpha-1 Deficiency: Were You Tested?

Alpha-1 Deficiency: Were You Tested?

Whether you’re newly diagnosed with COPD or a 30 year veteran, the Alpha-1 Antitrypsin deficiency might seem like a new concept.

While Alpha-1 Antitrypsin deficiency (or AATD as it’s often called) is a rare genetic condition, it still affects around 100,000 Americans, if not more.


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The core symptoms are very similar to those of the more standardly diagnosed COPD, but while typical COPD progression is based on airborne irritants and toxins damaging the lungs, AAT deficiency causes a lower production of the protein that protects the lungs and liver from damage, leaving them vulnerable to early onset disease such as emphysema.

Though it was discovered over 50 years ago, the majority of those with the AAT deficiency are actually untested and undiagnosed.

How about you?

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Some physicians test for AATD more readily than others. But there are a few characteristics that often lead a physician to believe a person might carry the deficiency. As always, everyone’s medical care is highly dependent on the individual and their personal background. If your doctor did decide to test you, however, they may have explained why.

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Most of the treatment options for those who do test positive are the same as those prescribed to the general COPD population, but there are a few treatment approaches that can be used specifically for those with the AAT deficiency.

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If you’re interested in knowing more about the Alpha-1 Antitrypsin deficiency as it relates to your personal situation, or the situation of a loved one, certainly bring it up with your physician. Even if you don’t have Alpha-1, it’s always good to learn more about the many facets of COPD!

Comments

  • Shellythomas
    3 months ago

    I have COPD .and husband doesn’t think I do .he thinks I am just kidding a rounding . I a hard sleeping and my doesn’t pay no attention to me at all has. Bubby’s come frist before I do .he paid more attention to them then me he with 24 _7 drinking and I never see him at all . I set and cry because I wantmother but I can’t because she gone passed away so my father so I have no one to talk to anymore.so alone. I do is cry myself to sleep anymore something I don’t even sleep I feel so much in pain . I just don’t know what to do with my life anymore.

  • Lyn Harper, RRT moderator
    3 months ago

    Shellythomas – I’m very, very sorry to hear what you’re going through. It’s so difficult if those closest to us don’t understand, or won’t understand our situation.
    I hope you’ve spoken to your doctor about this. Perhaps he/she could recommend a professional that you could talk to. It may really help to have someone listen – even if it isn’t a family member. They may be able to offer some advice on what you could do to change your situation.
    I would also suggest that you have your husband accompany you on your next visit to your lung doctor. He should hear firsthand what the doctor says about your COPD.

    Regards,
    Lyn (site moderator)

  • Leon Lebowitz, BA, RRT moderator
    3 months ago

    Hi Shellythomas and thanks for your post. I’m sorry this is happening to you and your husband doesn’t seem to understand your condition. It sounds like you have some genuine challenges in your home situation. Are there other family members or friends who can assist you? Is your doctor able to speak with your husband about your COPD? Please know you are always welcome here!
    Leon (site moderator)

  • Shellythomas
    3 months ago

    My

  • mama
    5 months ago

    I have a family history of copd both my boys 21 and 12 have always been susceptible to lung issues and I am 56 years old former smoker as were my older family member that had copd Do I have reason to be concerned about alfa1?

  • Leon Lebowitz, BA, RRT moderator
    5 months ago

    Hi mama and thanks for your post. While we cannot provide medical advice or diagnostics over the internet (for your own safety), I would encourage you to discuss this further with your private physician. Your doctor can actually provide you with the (blood) test in the office if you both decide to have it done. Please do check back and let us know how you’re doing. All the best, Leon (site moderator)

  • ladydianna
    7 months ago

    Thank you for the info. I will talk to A physician about it.

  • Leon Lebowitz, BA, RRT moderator
    7 months ago

    Hi ladydianna – it’s our pleasure. Please do check back and let us know how you’re doing. All the best, Leon (site moderator)

  • Calan3
    10 months ago

    I live in the UK and I’ve never heard of it here? Any advice? Thanks

  • Lyn Harper, RRT moderator
    10 months ago

    Calan3 – Sadly Alpha 1 is a global problem. Perhaps it’s talked about as much around the world but is a genetic condition that can effect anyone, wherever they live. The Alpha 1 foundation held a global patient conference in Lisbon, Portugal that focused on latest research and developments in the field. If you’re interested in being tested, I would suggest you speak to your doctor about it.

    Regards,
    Lyn (site moderator)

  • Leon Lebowitz, BA, RRT moderator
    10 months ago

    Hi Calan3 and thanks for your post. In addition to the response provided by Lyn (which is good information, by the way), I thought you might find it helpful to read more about the genetic type of COPD. This article may provide you with some additional insight: https://copd.net/basics/causes-risk-factors/genetics/. All the best, Leon (site moderator)

  • apeter7874
    11 months ago

    I developed severe joint pain at 47. Went to Dr. gave me methotrexate. Started having labored breathing after 4 weeks. Dr. Took me off med & referred me to lung Dr. ctscan and alpha one testing came back positive pi-zz genotype. I am now 57. Fev1 under 30%

  • Lyn Harper, RRT moderator
    10 months ago

    Wow, apeter7874! You certainly have a lot to deal with. I hope the medications you’re taking for your COPD are doing their job. The added issue of the Psoriatic Arthritis obviously complicates your treatment. I hope between all the physicians you see they’re able to keep both the COPD and PsA under control.

    I’m sure you already know, but one of our sister sites is Psoriatic Arthritis.com (https://psoriatic-arthritis.com/) . Just like COPD.net it’s got great information.

    Warm Regards,
    Lyn (site moderator)

  • Leon Lebowitz, BA, RRT moderator
    10 months ago

    Hi apeter7874 and thanks for your post. With the various conditions you’re dealing with and the various physicians, are you able to get the doctors who provide your care to collaborate with one another? What do you think?
    All the best,
    Leon (site moderator)

  • Leon Lebowitz, BA, RRT moderator
    11 months ago

    Hi apeter7874 and thanks for sharing your experiences with the community. How are you being treated/managed for your COPD? Are you under a physician’s care? Wishing you the best, Leon (site omderator)

  • apeter7874
    10 months ago

    I have psoriatic arthritis so can’t take infusibles eg remicade, humera as it affects my lungs. I have a lung, heart, arthritis specialists. I see 4 Drs. I developed pvc’s due to the the lung damage straining working my heart so hard. I take symbacort, spiriva, heart meds to control pvc’s, about 9 meds in all. Prednisone, antibiotic routine, etc. fev1 is now 25%

  • Gale1852
    11 months ago

    Hello, I have just now read the article on Alpha-1. What is it exactly? I have never even heard of it outside of this community. Any information would be helpful since I’m completely in the dark about it. Thanks! 🙂

  • apeter7874
    10 months ago

    Alpha one is a genetic disease where ones liver doesn’t produce enough of the alpha one protein. This results in enzymes destroying too many white cells in the lungs. I’m simplifying however think of it as the alpha one protein is needed to neutralize the enzymes in the lungs before they destroy healthy white blood cells along with unhealthy ones. Results in emphysema.

  • Leon Lebowitz, BA, RRT moderator
    11 months ago

    Hi Gale1852 and thanks for your post. We have several articles available about the genetic form of COPD. I thought if you were to read them, you might become more familiar with this type of COPD. Let’s get you started with this first one: https://copd.net/basics/causes-risk-factors/genetics/. I hope this provides you with some additional insight for your concern.
    All the best,
    Leon (site moderator)

  • Lyn Harper, RRT moderator
    12 months ago

    ttony – that’s a great question. Bronchospasm is when the smooth muscles of the airways constict and tighten. This narrows the passages and can cause wheezing and shortness of breath. – Lyn (site moderator)

  • ttony
    12 months ago

    hi , what is bronchospasm?thanks

  • laura
    1 year ago

    I was diagnosed in 2006, after a chest X-ray showed emphysema, even though I’d never smoked. Chest physician at my local hospital did the test, and was very surprised at the result, zz. He said I was the first case he’d seen in 30 years. I was referred to an alpha specialist in London, and they’ve looked after me ever since.

  • Leon Lebowitz, BA, RRT moderator
    1 year ago

    Hi Laura – that is some experience you’ve shared from 12 years ago! Fortunately, you’ve been under the right doctor’s care ever since your diagnosis. It must feel good to have a dedicated specialist providing your care. Wishing you well, Leon (site moderator)

  • Mendee
    1 year ago

    My doctor looked at me like I was crazy when I asked about getting tested for A1A. She eluded to the fact that I had been a smoker, for many years; so it wouldn’t make much of a difference, if I had the deficiency or not.

  • Njb
    1 year ago

    You didn’t have this answer…I asked for the testing for:
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    Do you know for what reasons your doctor decided to test you?

    That’s what I did, I asked for it.

  • BreathlessinEssex
    1 year ago

    I am Alpha1 zz (emphysema related) I was dx in 1999.I am lucky because here in England there is not a great deal of knowlegable doctors of this illness. My gp spotted something and sent me for tests,which proved positive (a1ad zz) Since then it has been one up hill battle but I feel now nearly 20yrs later I am in control.My medications are just the same as COPD we do not have infusions over here like in the US. Even if I was using private insurance that still would not have been an option. Our NHS for years as just treated Alpha1 under the same umberella as COPD they find this less expensive.Which is why to this day there are still no positive treatments for Alpha1. The NHS will say that they are putting money into Alpha1 but really apart from a few Alpha1 clinics where they just gather information and pass it back to Birmingham where this all started over 50 years ago nothing as changed.
    A few years ago there was talk of an inhaler that would hit directly at the lungs but so far we have not seen this prescribed maybe in another 10 years or so it may pass NICE rulings and it will be prescribed in the UK.

  • apeter7874
    10 months ago

    I opted out of taking the augmentation here in the USA. After researching I concluded it doesn’t really help . I have one friend who does take the augmentation and was diagnosed same time as myself. This persons disease has progressed faster than mine.

  • GeneHenderson
    1 year ago

    There is no excuse not to get tested. The Alpha 1 foundation will send you a free test and it’s confidential!

  • Kelly McNamara moderator
    1 year ago

    Hi @GeneHenderson! Thanks for sharing this resource with the community! – Kelly, COPD.net Team Member

  • Waterboy491
    1 year ago

    I am an Alpha 1 carrier, genotype MZ, level 112. At Mayo clinic Rochester, MN a pulmonalogist told me that replacement therapy is not required at that level. I am presently taking Brovana twice daily, Importorium Bromide 4 times daily and use Albuteral as a rescue treatment…. all used through a nebulizer. Reason for this a nev is durable medical equipment and is paid through Medicare B as is the medicines…. keeping me away from the “Gap”. This is a little more time consuming and less handy, but it saves a ton of money. Is there any other different Alpha 1 treatments I should be looking into? I have been told that MZ;s have a greater occurance of exacerbations…. I have had about 5 in the last year, one caused by a flu virus… is this too many. I quit smoking before I was diagnosed.

  • apeter7874
    10 months ago

    ZZ’s are the worst genotype. That’s what I have. Received an abnormal alpha gene from both of my parents.

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