To All copd patients please get checked for alpha one antitrypsin deficency, we are rarely diagnosed and most misdiagnosed as copd patients!

A1AD is not a rare disease but is rarely diagnosed and many patients with emphysema , liver problems and copd (umbrella) if presenting problems in their 4th decade or have presented them in the last 30 yrs when you could not test for alpha one need to be re tested and re called for alpha one test up to 3 per cent of ALL COPD PATIENTS have alpha one a inherited genetic condition that effects your liver and your lungs, if you need to get tested ask your gp or contact the alpha one support groups online to help you , you are able to send for a home test kit , which is a simple blood pin prick . Your test results are back within 3 weeks and it is vital you establish if your a alpha or copd person, there is a huge and vast difference between these diseases so please ask to be tested!!

18 Replies

  • That's the way it should be Flo but unfortunately not the way it is! If I asked for that at my surgery I would be laughed at! Mine didn't even want to give me a chest x-ray...

    Do you know how much the online one is please? x

  • Think I remember reading on here that it's actually free ! by a charity ?

  • I got that checked because of being as young 50 at the time i had to go on o2 and lungs at 20% cap. dont have alpha1. that did make me glad for my kids and grandkids.

  • Hi flo, I'm an alpha 1 ZZ phenotype, I had had asthma since birth, constant chest problems all my life copd in my 30's and still never checked for it until they thought I had a blood clot, ct showed emphasema so blood test was done and results I'm a very severe alpha, I'm under prof Stockley at the QE hospital birmingham who specialises in alpha 1, all my kids had to be had to tested they came back as MZ ( carriers ) but now there partners when they have them and decide to have kids will also have to be tested cuz if they too are MZ they then could pass ZZ on to the child.

    I am an ex smoker but have not felt any benefit as such as I've deteriorated so much in the last 12 months dread to think what u would be like it I still smoked.

    Anyway great post and agree if anyone under 40 yrs old that has had lots of chest problems diagnosed copd or emphasema ask for the test, although no cure and treatment is the sane as copd/ emphasema it's helps future family generations. Take care x Sonia x

  • Thank you Sonia, I am very severe too, I like you smoked as well and like you was tested when they diagnosed emphysema I was 45 , it hit me like a brick, never had any problems whatsoever throughout my life, so big shock. I knew nothing about alpha on being diagnosed so was foolish and continued to smoke until they gave me 2 yrs left to live in 2009! That woke me up , I have only the middle parts left of both lungs and sooner or later will need a transplant if stem cell is not here before I get to that point I am very hopeful this will come. I took the bull by the horns and worked on me turning it around so from a 22% fev I am stable last 4 yrs at 42% with meds, which is not great but better than where I was ..I walk daily with my dogs and eat healthy food, so this for me works. I have been quit in Feb 5 yrs ! :) It is very important that people get tested, many are getting through the net and will never know which is criminal...Doctors are generally useless with alpha one. I was under Queen Elizabeth and Stockley for first 4 yrs now I go to Royal Free in depth testing but still nothing for us other than what I have , this has to change for UK alpha patients and therapy needs to be given to us. I remain hopeful, but in the meantime focus on the future and positive in my outlook. I will put out the link for test kits later here. We run a support group on facebook for alpha patients Sonia your welcome to join let me know if your interested. Good luck and thanks for the post. Just trying my hardest to help others out there and I sincerely do hope this does give them a reason to think about the test . It's vital we know.

  • Here is direct link for the test kit to those who feel they could benefit in knowing on whether they are alpha one.

  • Coastal 1 completely

    free , and well worth the effort in testing!!

  • I went to see a rheumatologist last November I have never been referred in the 10 years I have been diagnosed with COPD so I paid private. I asked him about this alfa 1 and he said I did not have it and would not test me for it however he did agree to run some tests he said I needed and I'm still waiting.

    I will ring the hospital tomorrow and get one of these test kits can't believe they are free thank you

  • Hi all. My eldest son has it plus my grandson, I'm free as is my youngest so waiting for hubby's results to come back. Resp. Clinic tested me as soon as I saw them, this clinic here in Hartlepool is fantastic, great nurses who do everything they can to support you and a great consultant too.

  • Bryju124, sorry not understanding this correctly? You say your son has it and grandson, but your not a carrier? This cannot be the case it takes your Mum and Dad to pass the defect gene on to the child, there is a one in four chance of your children being what we call a 'full blown' I am a full blown my brother is not he carry's the gene, which is why his daughter needs to be tested, so far she refuses, her choice! Is this your biological son? Don't mean to pry but it would not be possible for your test result to be clear and his not, is he a carrier ? or a full blown, it may be possibly if he carriers if your clear and your husband carry's , what gene type is he? Mystery , hope your able to help on this. If your son is a carrier, your sons wife needs to be tested and your grandson, hope you are able to understand it is complex , good he has good care at Hartlepool.

  • My understanding is that there are usually two parents?



    'Alpha-1 Carriers may pass their defective alpha-1 gene to their children.

    If a carrier (MZ) has a child or children with a person who has normal alpha-1 genes (MM), each child has one chance in two (50% risk) of being an Alpha-1 Carrier

    (MZ). There is no risk that any of the children will have the condition.

    If a carrier (MZ) has children with another carrier (MZ), each child has one chance in

    two (50% risk) of being an Alpha-1 Carrier. Each child also has one chance in four

    (25% risk) of having Alpha-1 (ZZ) and one chance in four (25%) of having normal

    alpha-1 genes (MM).'

  • Yes, my comment was made because flo assumed Bryju's children could not be diagnosed with the alpha one deficiency if Briju did not have it, and did not consider it may be passed down via their father.

  • As I understand it, If both parents are carriers then the child may have alpha1 deficiency, but if only one parent is a carrier then the child may be a carrier, but will not have alpha 1 deficiency.

    Presumably Bryju means that her son and grandson are carriers . . .

  • Living and learning!

  • Sorry I think I was mis read with my post Still truckin is correct and I said that, so if you are a MZ carrier and have a MM wife or hubby your children will have 50 per cent chance of being a carrier, if your both MZ or like my gene type which is as severe but extremely rare Z Mmalton as a ZZ then 1 of up to four children will be a full I was trying to establish what gene her son had , he may and could be a carrier? In which case her husband will be a carrier without her having the gene at all, if not there could be another reason that her son has the gene without her being affected which is why I said is she the natural mum?

  • Either way her sons child needs testing in case the woman he is married too is also a carrier it is rare but it happens a lot more than we are informed , there are over 3 per cent copd patients not diagnosed with alpha one out of ignorance and no awareness on the disease, it is essential if your in your 40 or 30's to have the test if your presenting symptoms of copd, emphysema , we are a liver disease first and foremost and the lungs are secondary although in most cases the first to present problems, our livers need to be checked on equally as the lungs, it is a severe disease and debilitating

    which is why I put out the post to raise the profile of it and make people on here aware of it , as they could be misdiagnosed and untreated...

  • Will do thanks

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