COPD: Is it genetic? alpha-1 antitrypsin deficiency

Posted by Merry, Alumni Mentor @merpreb, Dec 3, 2018

This was sent to me by COPD.net via the National, heart, lung and blood Institute. I wonder if anyone has been tested for any genetic component of COPD. https://www.nhlbi.nih.gov/health-topics/alpha-1-antitrypsin-deficiency#Causes.
There are certain precautions that people with COPD should take to protect ourselves. Unless you are allergic everyone should have had a flu shot by now. If you haven't please check with your doctor to see if there is any reason why you should not. Also pulmonary rehab is a big thing in recovering some of lung function to help you breath better. I took it and all I can say is , OH BOY! IT HELPED tremendously.

Interested in more discussions like this? Go to the COPD: Chronic obstructive pulmonary disease Support Group.

@joangma

not sure if hereditary or not mother died w/lung cancer

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joan- If yo u are concerned you should ask her doctor.

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@merpreb

Thank you Colleen. I think that mine is caused by smoking. No doctor has mentioned anything else.

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drs don't because they don't know much about it.... so you do the asking. I found out thru dna testing at 23and me so then I asked my pulmongolist and then they drew the blood and sent it to mayo where it came back that I was MZ People need to keep track of their health.... I read the drs notes, look at the ct scans (of which I cannot figure anything out) but when the dr points out something I know what they are talking about. So please Colleen ask every question you can think of

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@sakota

drs don't because they don't know much about it.... so you do the asking. I found out thru dna testing at 23and me so then I asked my pulmongolist and then they drew the blood and sent it to mayo where it came back that I was MZ People need to keep track of their health.... I read the drs notes, look at the ct scans (of which I cannot figure anything out) but when the dr points out something I know what they are talking about. So please Colleen ask every question you can think of

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I need spellcheck!!!!!!

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@merpreb

Good morning again @sakota. I also have COPD but I had to look up alpha 1 carrier. I have never been tested. How did you come to know that your COPD is genetic? Many of us here have multiple diseases. I'm 72 and started my journey when I was 51. Just off the cuff of my brain I think that you may have to ask a geneticist about any connection of any other illnesses and your genetic factor. I found this for you: https://www.alpha1.org/what-is-alpha1 This goes into a lot of detail How has your COPD been treated? I have 3 inhalers. Do you presently have an active cancer?

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You should be tested. If you are an Alpha you may greatly benefit from Prolastin-C infusions,

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@sakota

I have copd and. Just this past year have found out i am a alpha 1 carrier. So how do i know if my copd is caused from that or just luck of the draw. I go into a support group on facebook and from there it seems likeveverything i have is connected to alpha 1. For instance i had a hysterectomy from endrometrious. I have gerd. I get diverticulitus Had gall bladder removed so i run to the bathroom. Am diabetic. Had a heart attack. Have spinal stenosis. And i am getting tired. Most of the things have have happened since i was 62. I am now. 74. Since i am a carrier is there anyway to be certain that someof these things are connected to alpha. Oh also have lung cancer and skin cancer. Please excuse my spelling

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What is your Alpha 1 Antitrypsin level?

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@merpreb

Sakota: If you are a carrier that means that you inherited at least one gene from one parent. I think that setting up an appointment with a speciaist at Mayo is smart. check this out: About 234,000 results (0.65 seconds)
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Web results
Is COPD Hereditary? Learn the Risk Factors - Healthline
https://www.healthline.com/health/copd/is-copd-hereditary
Jan 25, 2017 - If you inherit only one copy of the gene, you'll be a carrier. This means you won't have the disease, but you can pass the gene to your children. If you have AATD, you can protect your lungs by not smoking.
https://www.verywellhealth.com/copd-causes-risk-factors-914865

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People with one gene can have symptoms

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There are different levels of Alpha-1 tests. I’ve had about 8 from 2000 through this year and will be submitting vials of blood for more testing. My Phenotype is normal MM but my emphysema is “VERY SUSPICIOUS” for AlAD, which always appears on my imaging. My dad had chronic bronchitis, though he never smoked. He was tested and did NOT have A1AD.

They have testing that is a simple finger prick and drops of blood, swab on the inside of your cheek and now it appears vials of blood if they want to do more in depth analysis. They can tell your Alpha-1 level, your phenotype, and if you have a known variant of Alpha-1. I will be curious to find out what they learn from my vials of blood and will post anything I learn that may be of interest.

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@sakota

I have copd and. Just this past year have found out i am a alpha 1 carrier. So how do i know if my copd is caused from that or just luck of the draw. I go into a support group on facebook and from there it seems likeveverything i have is connected to alpha 1. For instance i had a hysterectomy from endrometrious. I have gerd. I get diverticulitus Had gall bladder removed so i run to the bathroom. Am diabetic. Had a heart attack. Have spinal stenosis. And i am getting tired. Most of the things have have happened since i was 62. I am now. 74. Since i am a carrier is there anyway to be certain that someof these things are connected to alpha. Oh also have lung cancer and skin cancer. Please excuse my spelling

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Sweetie, please don’t refer to yourself as an alpha-1 carrier. Knowledgeable specialist in alpha one will tell you that there is no such thing. You are am MZ Alpha. MZ alphas can be symptomatic, but their symptoms are generally not as great as ZZ alphas.

The presence of even one Z gene will reduce The level of Alpha one anti and in your bloodstream and therefore effect the amount of protection that you have from external factors. I am a ZZ never smoker & have a level of 17. My son is an MZ & has a level of 80. My niece is an MZ and her level is 120. My son has many more health issues than my niece As his level is closer to the bottom end of the acceptable range.

Alpha one is a multi tentacled monster. There are a lot of seemingly connected health issues that go along with Alpha one, but few have been definitively proved.

Find out the Alpha one level in your blood then have a serious talk with your doctor. If you’re alpha1, one level is low enough You may be able to get Prolastin-C infusions which will raise the level of alpha one in your bloodstream and give you protection From Alpha associated disorders

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COPD is NOT hereditary! COPD is a condition caused by damage to your lungs.

Alpha one antitrypsin deficiency is hereditary. Alpha one Antitrypsin protect your lungs from damage. A person with Alpha one whether their genotype is MZ or ZZ has less antitrypsin in their bloodstream and therefore less protection to their lungs.

Alpha one antitrypsin deficiency is often called hereditary emphysema, but that is a misnomer as well.

If you smoked And have the gene for alpha one, you are in huge trouble. You will undoubtedly get COPD at its worst. And the bad thing is that if you get COPD and you smoked, they won’t even test you for Alpha one most of the time.

It all comes down to the level of Alpha one Antitrypsin in your bloodstream
ZZ Alphas have An incredibly low level of it in their blood and consequently usually end up with COPD. MZ alphas have a higher level in their bloodstream, but it all depends on The level they have plus other environmental factors as to whether they will have COPD.

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