COPD by another name could be Alpha-1 antitrypsin deficiency

COPD by another name could be Alpha-1 antitrypsin deficiency

Have you been told you have COPD? Has anyone else in your family had COPD, or unexplained liver disease, or a skin condition called panniculitis? If you have COPD, whether you smoke or not, whether you have ever smoked or never at all, Alpha-1 antitrypsin deficiency might be the cause of your COPD. It is inherited, and there is a simple blood test that can be done, with results available quite quickly. The symptoms of COPD due to Alpha-1 antitrypsin deficiency include shortness of breath, wheezing, crackling sounds in the lungs especially at the base of the lungs, bronchiectasis, chronic cough and sputum production, and recurring respiratory infections. The symptoms of Alpha-1 liver disease include jaundice, elevated liver enzymes (found by blood test), abdominal swelling, and pain in the region of the liver. If you live in the UK, you may consider going to the Royal Free in London, as an Alpha-1 clinic has recently been established there. Evaluation by consultants is important if you have Alpha-1 antitrypsin deficiency. A lot more information about Alpha-1 antitrypsin deficiency is available at alpha1.org and at alpha-1foundation.org.

22 Replies

oldestnewest
  • Was reading about that yesterday as it was not of interest to me am not 100% but i think thats why women ar more prone to emphysema

    Think its like or starts like blisters on you lung tissue that produce to much stuff

    Blisters are quite natural its the the over production of stuff

    Anyway cheers great post :)

  • Alpha-1 antitrypsin deficiency affects just as many men as women. Alpha-1 protease inhibitor (Alpha-1 antitrypsin) normally protects the alveoli in the lungs from being damaged when there is inflammation. Alpha-1 lung disease is a result of the destruction of alveoli. The damage usually begins at the bottom of the lungs, in contrast to the typical smoker's lungs where damage usually begins towards the top of the lungs.

  • yes thanks Reilly and thanks so much for all the details only know bits this helps I think my mam & dad had it much have did not know about my illness till my sister died 2 years ago she died of ALPHA 1 ANTITRYPSIN DEFICIENCY that when I had test done then 2 month ago they told me I had COPD xx Ann

  • Angels2810, what is your Alpha-1 phenotype?

  • I was diagnosed some 10 years ago my Mum had COPD about 4 years ago I started bruising they were plum colour my joints were very painful like flu pains. I have had blood tests but no one knows what is causing this.

  • Did they test you for Alpha-1 antitrypsin deficiency?

  • No I was tested for cancer and then sent to see ryhume and they tested me for lupus. This morning I got up feeling like I had the flu went in to the bathroom at that point I had no marks on my face went to the loo washed my hands and saw I had a red mark on my face that is how quick they appear.

  • Yes, they tested me a few years ago ..... & yes, I am A1AT Deficient. My kids are due for tests soon (it's only a blood test, nothing difficult).

  • I have just been on the A1AT site and read up about it I think I'm going to contact the nurse and see if they will do a blood test and some of the marks look like the purple marks I have and my brother has also been diagnosed with COPD. Thank you for that information this site is worth it weight in gold

  • I am happy to help. If you do have A1ATD, please know that it is somewhat manageable and that it is not a "death sentence".

  • Thank you so much Reilly as i said I was diagnosed 10 years ago January 13 I had my usual breathing test and I was level 3 then I got the flu and went up to level 4 but I'm going to talk to the nurse tomorrow and ask for a blood test. I know its not a death sentence but I would like to find out what these purple marks are.x

  • I have made an appointment to day to see the nurse I'm seeing her on Sunday { my GP's are open seven days a week } I'm going to ask her if I can be tested for this Alpha-1 antitrypsin deficiency and I will keep you posted and thank you. x

  • It's good you are doing this.

  • I have looked at this on the net and my Mom definitely had this. I was diagnosed with COPD 2006 and 2007 I was diagnosed with secondary polycythaemia and I only found this out because it was on a referral letter 2012. I have been to see the nurse today because I'm getting really light headed when I walk I asked her about alpha-1- antitrypsin deficiency she did not know anything about it and said I would only be tested if it changed the treatment I'm on for COPD so I have to see the GP.

  • Please, do get tested. Lung disease due to Alpha-1 antitrypsin deficiency is a bit different from "ordinary" COPD. It is important to know if you have alpha-1 and the genetic phenotype you have. If you have severe Alpha-1 antitrypsin deficiency, your treatment might be different from that given for "ordinary" COPD. In addition, you would do well to find out if you have any liver disease or skin disease due to Alpha-1. It is rare, but is the most common genetic cause of respiratory disease in the UK.

  • Reilly can you tell me what treatment I would get if it is alpha 1 at the moment I have two inhalers my blue one to use when I'm breathless and my steroid one which is two puffs three times a day and other than that I get oral steroids and antibiotics when I get the flu, chest infection or flair up. I'm going to make an appointment with my GP this week

  • I am not a doctor, so I cannot give you proper medical advice, but I do know that Alpha-1 lung disease is not always helped with inhalers. This is from my own personal experience and my pulmonologist and research articles I have read online. Pulmonary rehab is likely to help you feel better, although it cannot reverse lung damage that is already done. Avoiding smoke, other air pollutants, perfumes, chlorinated swimming pools, smog, etc. are important. The UK doesn't yet offer Alphas augmentation therapy, but it may happen within the next few years. Augmentation therapy is a weekly infusion of purified alpha-1 proteinase inhibitor, and it is intended to slow the loss of lung function. I live in the USA and have been on augmentation therapy for several months. I will be receiving weekly infusions for the rest of my life. There will be a meeting in Westminster on December 10 for MPs and Alphas to call for better care for Alphas, including specialised services and augmentation therapy. For details, check the Alpha-1 Alliance website: alpha-1-alliance.org.uk/pol...

  • Thank you for that Reilly I did look on line at symptoms and I'm 100% sure my Mum had this she would have these brown dry skin marks down her shins she was being treated for COPD by her GP because she was a smoker. I'm going to see my GP and ask him to do the blood test.

  • Hiya, just to throw something else into the mix, I have copd and have the brown dry marks on my legs, but was told by the consultant (thyroid) that was caused by my hyperactive thyroid. I haven't had alpha 1 tests, but my mum had the same conditions I now have! Sadie xx

  • Sadie I was diagnosed about 10 years ago and about 5 years ago I stated having these plum coloured marks appear I have been tested for cancer in the end when nothing showed up they put it down to the use of steroids but by that time I had only taken steroids 3 times I'm not on steroids now and covered in these marks, I think we should both take this alpa test. xx

  • That 1% is just an estimate, and it is probably low. I don't know the Alpha-1 figures for the UK, but you might consider what we know about the prevalence of Alpha-1 in Ireland. In a cohort of 5197 people who were tested for Alpha-1, nearly 4% had a ZZ, SZ, or SS phenotype (severe); 26 % were considered "carriers", as they had one allele for Alpha-1, that is, phenotype MZ or MS. Even carriers can be symptomatic. Smokers can be symptomatic for lung disease even if they have only one allele for Alpha-1 (MZ, MS, and other rarer phenotypes). My parents were both carriers (MZ), and they smoked, and they both died early of "COPD".

  • Hi Reilly I went to see a lung specialist today he said it was highly unlikely I had Alpha 1 he said a lot of people can be carriers but it takes the bad gene from both parents he said he would do some breathing tests for me and also run some tests on my hart to make sure the pain in my left side and the light headedness was not my hart but the copd.

You may also like...