It's been quite a while. I was here months ago asking about air-trapping in otherwise healthy lungs. Well, about a month or so ago my lung doctor tested me for Alpha-1 Deficiency. Time went by and I hadn't heard anything so I assumed all was well with the test, but I got a call from the doctor office saying they want to see me in a couple weeks instead of my usual 6 month appointment. Since the Alpha-1 test was the only new thing they did last appointment I instantly asked the person on the phone is something was wrong with the test results. She said "it's nothing to worry over, the doctor just wants to go over the results with you" - Well there's no way to wrap that in a positive bow for me.
Knowing nothing about Alpha-1 I went into research mode immediately after hanging up the phone. And now I'm worried sick. I can only assume the worst because I do have shortness of breath when I push myself and that tells me the emphysema must already be started. I begged to be seen earlier since I know I will only research and worry endlessly for the weeks it takes for my appointment date to get here, but they are fully booked so here I am. I have extreme health anxiety and this is the most awful weight to carry.
I know no two cases are the same but I was wondering if anyone could shed some light on a few questions about Alpha-1 for me.
Does hereditary emphysema (alpha-1) progress faster than your average emphysema? I'm assuming since it happens earlier in life (I'm 37) that it does.
Do all genotypes (ZZ, MZ, SZ, etc) tend to progress the same? I know ZZ type is much more likely to develop liver issues.
Is every common cold going to reduce my lung function permenantly each time I get one?
I'm sorry if this is all over the place, this news, and lack-there-of has really taken a toll on me. The nurse on the phone said not to worry, but how can I not when I can only assume that every day I will breathe worse than the day before. I will update with the test results when I get them. Thank you for your time and sorry again for being over-emotional.
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You are right in saying that we are all different. To get an accurate prognosis why not ring the BLF helpline and speak to the nurses there tomorrow morning?
We do have members with this deficiency and I am sure one of them will see you post. In the meantime, check out posts written by Parvati who has not let it stop her doing whatever she wants!
Hi wizzle, I have alpha 1 ZZ phenotype, I'm not great at writing long essays but I will certainly try and answer any questions u have regarding it. I'm under an alpha 1 specialist here in England ( QE. Hospital in Birmingham ) lots of what u read on the Internet ( alpha 1 sites ) are very informative and do help but if there's anything u want to ask I'm happy to help if I can xx Sonia xx
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Sonia, I actually read quite a few of your posts while I was browsing the site for Alpha-1 info. Thank you for sharing so much of your journey with us, it is inspiring. I appreciate you being here!
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Thank u wizzle, , a lot depends on ur phenotype for example ZZ ( mine is the worst ), I have had problems from birth with my lungs and developed more severe problems in my twenties ( as im sure Uve read ) mz is a carrier , but can develop symptoms later in life based on lifestyle choices, some people never have issues at all , all my kids were tested and are mz's none have displayed any symptoms of lung problems from birth, ( thank god ) non of them smoke. They all have other health issues but nothing to do with alpha 1. Plz feel free to message me anytime if I can help I will try. Take care and let us know ur results and outcome, now ur here ull always have support. Xx Sonia xx
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In your conversations with doctors have they mentioned if Alpha-1 based emphysema tends follow more standard (for lack of a better word) forms of emphysema? I guess one of my main questions is if Alpha-1 -on average- progresses at the same pace, or quicker since there is an actual deficiency in the body that isn't protecting the lungs?
Also I was wondering if all forms of Alpha-1 emphysema tend to progress the same once the symptoms begin, or would a MZ have less severe symptoms/prognosis than an ZZ? - or does the type of Alpha-1 not matter once the emphysema sets in?
I'm just asking from your personal experience, I know you are not a doctor and can't give me a diagnosis, and I know no two cases are the same, I'm just trying to get some feedback from people who have been down this road.
Thank you again!
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Hi, ZZ alpha produces none or very little of the enzyme needed to protect the lungs, resulting in earlier symptoms of lung damage ( early twenties) without smoking either, so I was told although with treatment and healthy living to try slow down the progression, progress it does, every chest infection, dust, pollutants constantly continue damage as there nothing to protect the lungs, where as people with mz phenotype can actually produce enough enzyme, thus making then carriers, and although they can have lung issues it's generally a lot later in life and added things like job/ career, smoking will contribute to their decline. Professor stockley at the hospital I attend for alpha 1 told me the research is mainly based around ZZ and SZ ( his words not mine ) that we are classed as pure alpha's. I have declined in health, but plz don't let this rule ur life or worry u ( easier said then done I know ) till u have seen the docs and take it from there. Like I said I'm happy to help with any questions u have. Xx Sonia xx
I am PIMZ. Diagnosed 6 months ago. I have had lifelong problems with chest /cold infections. My age is 74 and I have emphysema (severe)
I am still active, within reason. Not on oxygen. Been to Pulmonary Rehab which was brilliant in helping my breathing etc. Try not to worry, there's lots of help and advice available. Ps. Alpha 1 was only discovered/identified in 1963.
I'm an Alpha-1 and have probably had emphsema since I was born... I did stop smoking and will celebrate my 70th birthday next year. Being A-1 isn't the death sentence you think.
This reply is later than most but better late than never I guess. I was tested for the genetic condition of alpha1 anti tripson defiecency at the age of 21. I did this as there never was a time when I could breath normally.My whole family was advised to do so and we found out that each of us has one form or another of it. Going back 4 generations on both sides of the family. I have suffered with breathing issues all my life and yet some of my siblings don't seem to have much of a problem with. If fact one still smokes at the age of 62! I am now 72+ and things are worse, but due to me being active and working out I'm able to do most of what I like, maybe a lot slower, but most.
My father, his father, his brother, my mother's father, his father all passed due to complications from it. However, they were not young. All were in their 70's and 80's. My mother passed at 92yrs old. It's not a death sentence. In fact, since so,many people have it there are new aproaches to treatments which have been shown to help living with it. As you stated, there are many variations of the deficiency even within my family, so no one treatment will help everyone the same.
You are already better off than most as you know about it. Just don't let " Dr. Google " scare you. As I posted a while back, we should all meet somewhere in 20 years to compare notes on how we beat our problems. I believe we will.
Thank you for this reply. I really appreciate it. I've done 1 to 2 mile half walk/half jogs every day since I've got the call from my doctor, I have read exercise helps and you seem to back that up with what you've said. I really hope they continue to find ways to get to the source of this issue and really fix it someday (soon preferrably).
Thanks again for the reply, I'm wishing you the best.
Tis me again. Exercise is known to be the only real "treatment" for emphysema -- all else is palliative. If you can walk that far, you're doing OK. Keep walking, keep pushing (but not TOO much). Rest when you need to.
Please don't consult "Dr Google": three clicks and you could be dead.
Hi Wizzie, welcome to the group 😁 I'm an pi mz....I was dx age 49 with severe emphysema 37%fev1 lung function, found out I was an Alpha1AD 3 years ago, (9 years later ).My Mum was dx with severe emphysema in her 60's , she died of heart failure due to the emphysema when she was 70 . They are still researching into A1AD and the different levels. I have a lot of white blood cells apparently.I used to smoke and since I stopped 12 years ago my lungs have improved though I'm now on ambulatory oxygen for the last 3 years. I was always sick when I was a child and had pleurisy in my early twenties, lots of chest infections and a persistent cough and bronchitis .Had a medical for a job at sea in my thirties and the doctor said I had the lungs of a person in their 90's. ( I still got the job lol ! )
I guess everyone is different, let us know how you get on.Alpha 1 AD has a genetic connection to the Vikings you can research on line. Wishing you well as possible, huff xxx😊🍇🍎🍓
Was the first time your lung functions were tested when you were 49? or did you have test done prior? I guess I'm just curious as to how quickly your Fev1 % fell.
I've read that MZ's still have pretty decent lung protection, like 60% of an MM. I would hope that some protection is better than none, and that it would slow down the progression. I'm still learning. Sometimes it seems like there is a lot of info out there about it, but sometimes it seems like there are no definitive answers.
I'm really sorry to hear about your mom. I can see how emphysema can put extra strain on the heart. In the less-than-a-year that I've had symptoms I've noticed whenever I get breathless my heart races.
I guess I've been lucky so far in that COPD doesn't run in my family tree, at least to my knowledge and that I've been pretty lucky with not really having many chest infections, I'm guessing that may change from here on out, but who knows.
Thank you again for the reply. I hope things continue to go as smoothly as they can for you.
Hi Wizzie,thanks very much 😊 Yes, that was the first test, spirometry at age 49 didn't see a Consultant for several years after that. I avoid doctors except to get the annual test and flu jab. huff 🙋🌸 x
I'm replying on my mums ID. Just wanted to tell you that I have today discovered I'm ZZ. Found this via a dna website that tests ancestry and gives some medical info too. I am nearly 58, haven't been to the doctors in over 10 years and though I do get coughs and colds don't seem to have lost noticeable lung function. So don't panic, I'll be visiting my doctor soon for a chat - we've never met! Good luck with your test results, I'm sure you'll get the help you need from your doctor .
That sounds like an interesting website. I have to be honest that I'm more than a little upset that my own doctor wouldn't give me ANY information as to what the results were with my test. Who are they to keep life changing info from me? If I turn out to be anything other than MM and they made me wait a month before giving me any answers I will be finding myself a new doctor. "It's nothing to freak out over" were their exact words. Time will tell I guess. Sorry for that mini rant it's just the more I think about the entire situation the more angry I get...anyways. Thank you for those bits of info, especially about your ZZ type and that you've been able to survive coughs and colds with no noticeable loss of function. I've become paranoid, I hold my breath anytime a car drives by (which makes walking and jogging in the city pretty difficult), I drive with the windows up (summer time here), If I smell ANYTHING I hold my breath because I feel like If I'm smelling something that means there are particles of something entering my unprotected lungs. I wish I could just chill and go with the flow but I am not wired that way.
I am in the process of getting cannabis oil, I've read many good things about it. And if big pharmaceuticals don't want us to have it - you know there must be something to it.
I do hope that your meeting with your doctor goes well and that you are able to continue on as well as you have been so far. It sounds like you're in as good of a place with it as you can be and that's awesome.
The website is 23 and me it's US based (I'm in the UK) Not sure if the Alpha 1 is tested in the US version because of the US rules, but the dna results take about 8 weeks anyway. As well as discovering I have A1AD I've found 700 cousins!
It's wrong that doctors make you wait for results like that. Give them a good talking to when you go get your results. I'm glad to have avoided them for so long but I suppose I should deal with this now. Don't let the fear weigh you down. It won't help. Easier said than done, I know. I'll come find you on my own system when I get back to my pc. Do let me know how it goes.
I'm signed in under my own ID now rather than my mum's (Letys) so feel free to get in touch any time you want. I'll let you know how my doctor's visit goes. They're going to love me - walking in and telling them I have a genetic disorder then requesting a bunch of tests and a flu jab!
As for 23andme, it is a fascinating site and the fact that the health reports have flagged up this Alpha 1 thing before any symptoms have shown up is a good thing. I will certainly be taking more care over my health as a result.
I hope that you are keeping well. Just back from getting my first test results. Despite being zz and having levels of 0.13 my spirography (?) test shows that my lungs are slightly above 100%, ie better than expected for a woman of my age and sex without the dodgy genes. The nurse said they were better than her results too. I'm amazed but delighted.
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Tis me again. Exercise is known to be the only real "treatment" for emphysema -- all else is palliative. If you can walk that far, you're doing OK. Keep walking, keep pushing (but not TOO much). Rest when you need to.
COPD V STAGE, ALPHA-1ANTITYPSN,CGD 
Emphysema 
What is Alpha-1
Alpha 1. 
COPD by another name could be Alpha-1 antitrypsin deficiency
