Alpha1 Antitrypsin deficiency test

Thank you to all those who recommended I have the test for alpha1 Antitrypsin deficiency, it takes longer than usual blood tests but my GP rang me Friday eve to say the results were back and they were positive waiting for a ct scan and consultant now, the GP said I was taking the news very well but I think it's down to me reading all the posts here and reading how we are all living with lung disease the personal experiences and supporting each other , thanks again :) 

6 Replies

Hello fellow Alphy, I'm very glad you are being checked over and will be under the care of a good Consultant. What pheno type are you? I'm MZ 😊 but developed emphysema because I used to smoke-a-lot. huff xxx

Hi I have no idea what type, my GP just telephoned to say sorry I was positive for the test, it's taken weeks to get the result despite me getting the results of other blood tests, my dad had empysema at 50 but then got lung cancer and died at 60, this was 15 years ago, unfortunately I was a heavy smoker until 2 years ago, I didn't realise there were different types, where will I find out my type? 

Thank you,

Hi Heidibutcher, I just read up on your last post from a couple of months ago, I remember 'talking' to you now. I am sorry you have the Alpha gene, it sure explains a lot when you find out about it. There are helpful Alpha1 sites you can join, great for learning about it .If you type Alpha1 into the search box lots of previous posts have the website addresses and the BLF have written information.

Your doctor should be able to tell you what your 'pheno' type is. In America you can have treatment for it but here in Britain the treatment is too expensive so they are still researching...

As you are returning to see the Consultant he/ she will be able to tell you what type you are and answer any questions so make a note of what you want to ask it will help.I think they might send you for an oxygen assessment if your sats drop when you are active. I have been on ambulatory oxygen for 3 years now and it helps a lot so if you find you need it ( natural medicine ) it will protect your other organs, mainly your heart and brain..

Hope this helps a bit, huff xxx

Thank you, yes finally it's making sense to me now with all my inconsistent breath test readings, but no one has done the gas/oxygen exchange test yet, it's been noted my hands are turning blue when I am really breathless from exertion, and I hope the proper pulminary tests will now be carried out my GP has been the first to admit this is out of her expertise , I hope the respitory consultant will be familiar with alpha1 deficiency , thanks again xx

Hi I am sorry the test was positive.   You have been very unlucky as I think it is fairly rare.  At least you have now been diagnosed and can start the proper treatment early.  A few on here weren't diagnosed until years later and suffered more as a result.  Take care x

Sorry to hear of your diagnoses. There is life after the diagnoses. I was diagnosed with type sz alpha1 back in 2008. My secret to survival is to keep as active as possible, keep warm and dry and keep away from people with colds and flu. Also there is lots of good friendship, support and good information on this group. Good luck for the future.

Ps there is lots of good info to be found on the web about alpha1 deficiency

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