I am new here, I have a condition called antitrypsin deficiency. I have noted that there are a few other users with this condition. I am rather scared as my condition has gone from non existent a year and a half ago, well must have been there obviously, but no symptoms at all, to present day lung function deteriorating and Kings college doing a fibro scan of my liver this April as I discovered on my ultrasound report from the Royal Brompton hospital that I have stage 4 fibrosis ( Ishak scale)
I have had to literally force GP's and specialists to actually test me I kept telling them my mother passed away from unknown liver disease after I had a bout of pneumonia in 2016 and was told my lungs looked hyperinflated.
I had no idea what this condition was, unfortunately it sadly seems neither do doctors.
I just wondered if there is anyone who I could get any personal info from as I've joined a yahoo group but in fairness not much is discussed.
Any replies I would be very grateful X
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Pugsrcool
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Carmik is a very good person to chat with regarding this condition, her hubby had a liver transplant due to alpha 1 deficiency and she has gone through it all with him.
Thank you so much for your response I am so grateful. I would like to ask some questions would it be ok to message you directly on here?
The yahoo group I have only just joined, but bit nervous to ask things there I believe most of them have lung issues as is usually the case, unfortunately I have both, so not sure much can be done. I'm fighting it with all I have its more the pain and multiple symptoms it gives me around my lungs and liver.
Glad to hear hubby is still fighting the fight best wishes to you both.
Bless you Carmik thanks. Funnily enough Karen sent an email just today regarding the annual meeting. I have read about this condition in much depth studies websites etc etc I have tried to educate myself, but the liver side of it is hard to find many. I too have bronchiectasis mildly and I have limited emphysema it's truly scary. Here's hoping your husband is well.
I will message you soon if I may, best to wait till I have my liver results I am so very grateful to you x
Look forward to speaking to you even though it is under these circumstances.
Tell me a bit about yourself, age, medical history etc. where you live, which hospital you are attending, family medical history.
The meetings are a great way to meet others and Doctors and other medical professionals that deal with Alpha.. Also a lovely social weekend. Not sure yet where this year will be, but can be anywhere in the country. They try to make it pretty central so that they can give everyone a fair chance. It is usually from Friday till Sunday at a special rate but you can just come for the Saturday if you want.
You will learn a lot. Sorry just noticed you are at Kings,. That was were Mike had his transplant and still attends there regularly.
They don't like you posting you results on this site but when the time comes you can
communicate with me on the Yahoo site. No problems with that there.
A word of warning about Facebook liver related groups.
While some are excellent, there are those where the moderating is less vigorous and there are risks of being wrongly advised and misinformed.
Make full use of the British Liver Trust website and this forum. On the website, you will find information and guidance which is reliable and only from trustworthy sources.
hi I am now being tested for the same thing my dad is very sick with an unknown liver disease that has almost killed him twice this year my son is having same symptons as me and my dad and the gastro cant figure out finally sent my referral to liver dr. I am also going to my respiralogist at end month to be tested as well as going for my dna genetic testing. pretty sure this is what I have since the liver looks ok on all scans and the lungs look a deflated with a fold collapse from what they think was a bad case of dry pleurisy. every muscle hurts and bones and nerves are burning all the time my stomach is nauseaus my head is dizzy I have weird attacks of gastritis that cause body seizures and my lungs feelinflamed and cause me chest and left shoulder pain all the time I cant wait to be tested what tests did you have done
I'm so sorry for the problems you and your family are having. This all begins in the liver, although most people seem to get lung issues, I have both. I had to force my doctors to do just a simple blood test for it. Then pushed for phenotype, now Kings are doing my genotype which gives you the specific strand if you like of your phenotype. You can either have 2 faulty genes, but even 1 faulty gene, being a carrier can have huge implications, especially if you have a rare one, it's all a bit complicated to go on about here.
If you think you have it or do have it, even if you are a carrier, if you have symptoms you would usually be sent for a lung function test, not the simple one at the docs but a complete test at a specialist hospital I went to the Royal Brompton in London because it's my nearest. They did ultrasound of liver, at my request and ct scan of my chest.I am also under kings just now as I have severe fibrosis of my liver and they are checking that too.
Typical findings are shortness of breath and it can feel quite severe, my cat shows limited emphysema and bronchiectasis.
Many people have this and have little or no symptoms so are unaware of it, as was I, but unfortunately if you have symtoms it's not great. It can be a gradual thing, or as in my case it hit me like a freight train.
Sorry not better news, however you can be protected by abstaining from pollution, smoking, drinking to some extent if these are things you are currently doing.
Let me know how you get on as I would be hopeful you don't have it x
Sorry to read what you have been through, it must have been overwhelming for you, and a great shock! I am a AATD patient severe and I run a couple of groups on facebook for lots of patients both in UK and abroad, mostly the USA are the biggest contributes as this disease is very loud in the USA. They have a dedicated foundation Alpha One Foundation. I think I know the group you refer to, mostly the 2 groups here are Charity run..I decided to take matters into my own hands as I found both groups in UK not doing to much of anything for alpha patients needs or frustrations! We have plenty and that starts with not being acknowledge as a fatal genetic condition to misdiagnoses for many ..with the ignorance out there its incredible . ..and very unjust. I was diagnosed without having a sign anything was wrong until a year before I got the low down and officially diagnosed, I am both Lung and Liver affected and I was incredibly healthy...all my childhood and adult life until I hit 46, by 47 they had given me 2 yrs to live, I was devastated. It took me a further 2 yrs to accept what I faced and was looking at, there are to date few to fewer gp's that engage in our condition and this is something that needs and has to change for those of us born with the disease. It is totally appalling! My lungs have been utterly destroyed by alpha one but the good news on this is I managed to take my initial prognosis and nurse me along and by taking care of me and dedicated to the fight back I am alive able to talk about this condition and advise others ..please pm me and I hope I can help out. I am so sorry that this happend to you but not at all surprised, this condition is not rare its rarely diagnosed 1 person in 2, 500 are what we term as full blown and nothing in the UK is being done to either treat us or open us up to the media by way of dialogue, we need both if we are ever going to get the right to better care , dedicated targeted treatments and more representation value from your standard doctor..its a disgrace but you are not alone. I would be happy to advise and have you on board our groups ...let me know.
Im so desperately sorry to hear how bad this condition has got you,but wow what a comeback, it must be some fight! I'm so happy to hear from you I'm truly sorry you to have this dreadful disease which seems to just get ignored, my doctors said, but you're only a carrier. I keep telling them a carrier with symptoms. Once all my bloods are back from kings I should find out which genotype I am too.
Would love to join your groups will send you a message.
I am so sorry to hear about your situations. I feel bad about contacting you as I am not currently so seriously affected but I don't know where to turn for help so I hope you won't mind. I think I may have A1A but don't know for sure. I was diagnosed with liver damage in August 2017. It was an awful shock and I didn't have time to look into it as I was caring for my mum who passed away from bile duct cancer just before Christmas. Following several ultrasounds and a Fibroscan it seems that my liver damage has no obvious source. My blood scans were all fine too, or so I thought. Then I got a copy of the letter to my GP and I noticed that although the hospital doctor hadn't said a word about this to me at our meeting, he mentioned that my Alpha 1 Antitrypsin is at the lower end of normal, at 1.1. I tried to look up what this level meant but couldn't find any kind of scale. However, I did read about Antitrypsin deficiency and found it all terribly frightening. I phoned the British Liver Trust who put me on to a Birmingham hospital A1A department. I have obtained a blood prick genetic testing kit but don't feel confident about using it correctly.
Cassie if your not confident in using the test kit call them directly. If you need the number look up the Queen Elizabeth Hospital and ADAPT project the ADAPT unit is in there I was under them for 5 yrs after being diagnosed correctly by a leading Consultant in Manchester who had the good grace to own up to not knowing enough on the genetic disorder and referred post haste to those that did. I thank that man you have to be referred by the GP or call them and ask their advise , I would do the test kit they are effective my family members have been tested this way after I was diagnosed. If you need the number just let me know will put here. You need to talk with them, this is not acceptable and these Doctors need to brought to answer for their disgraceful attitude towards you at this point. I have run in's ongoing to date with Doctors who are to lazy to understand or learn this condition ..its a appalling state of affairs and this is why I stress its vital you get into the right hands . In the UK we have 2 dedicated centres for Alpha patients so most of us travel but they understand you and this and what is going on . ..that is vital! One is Queen Elizabeth Birmingham and the other London Royal Free.. its your right to be referred. Please do the test or call them and express your reluctance they are there to help us.
Hi Pugsrcool, thank you so much for your response. I will phone the ADAPT project and let them know that I am nervous about using the kit. I must admit to being surprised that the Royal Free is a dedicated centre for Alpha patients. The British Liver Trust told me about two centres - one in Birmingham and the other one in Coventry I believe but I may have misremembered. They certainly didn't say anything about the Royal Free as I am under the Royal Free. They are the ones who noticed that my A1A is at the lower end of normal at 1.1 but they did not mention this to me, I found this out through their letter to my doctor and they have not suggested any further testing with regard to A1A.
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