Alpha One Antitrypsin Deficiency

[flo1]

Please be aware that this condition is a metabolic disease first and foremost, it is a liver disease, if your born with the 2 faulty genes one from Mum and one from Dad you will get this full blown, many alpha patients develop serious Lung disease as well, I have both Liver and Lung I was diagnosed aged 46. If you have questions or need answers on AATD please ask or message me, I run a support group for AATD patients I have over a decade of experience of dealing with and trying to live with alpha one, its a deadly serious condition my advise to those with the liver aspect of this is stop drinking immediately. The protein is unable to release into the blood stream from the liver and the back up of this defunct protein can and does lead in many cases of AATD to cirrhosis of the liver, most alpha's have either fatty liver or enlarged ones, the general tests are not reliable for us...you have to have the correct people diagnosis you and also look after you there are a few good clinics in UK for Alpha and you have to have a Alpha Specialists . Many of the Specialists out there are not understanding enough on this condition it is diabolical but it is fact, this is not a rare disease just rarely diagnosed...I hope this changes, please ask me ..and I will be happy to help.

[freddie76]

Hi interesting finally somebody with a1ad on here.

My hubby is zz

5 and a half years post liver transplant.

Where are u. at ,at present with this?

[flo1 in reply to freddie76]

I have severe lung disease, have had a liver enlargement back at 2012 end of ..thankfully it returned down to size, mostly my lungs are the biggest concerns, I was diagnosed aged 46, I am now 56, I missed a double lung transplant through educating me on this disease big time!! I was actually diagnosed at end stage lung disease without even knowing on this other than being very, very sick. I have Z Mmalton genotype which is very rare but equal in damage /severity to ZZ . I gave up all the toxins and fought back, very hard work but I am here alive and able to tell the story something I hope helps others, I live in England so no therapy for us here we are still denied augmentation I used to fight for it I do not anymore I get on with my life and living..I am seen by Alpha Specialist at the Royal Free in London , I am currently accepted on a trail for Valves in London at the Brompton still no committed or decided.. lots to think on and no rush, I have my next apt in Aug at RF and my liver will be checked thoroughly before committing to lung procedures I need to know my other organ is functioning to the best it can..I have been through a great deal with AATD and I now run my own group for other severe alpha's ..let me know if you would like me to add you with us, I am off at the moment I have a lot on with thyroid issues etc and hope my little issues can be sorted out as they are driving me nuts ..! Anything you need to know please don't hesitate to ask are you in the UK? or States? nice to talk.

[freddie76 in reply to flo1]

We are in the UK. Transplanted at kings.

Belong to alpha yahoo group.

We have an annual meeting.

This year in York. You may b interested.

Have speakers usually an alpha consultant will attend.

Yes would like to Join yre group.

How do you all correspond?

My hubby has lots of alpha related issues.

Sorry to hear yre story I note the rarity of your phenotype.

Speak soon.

[flo1]

We are a Facebook group the Yahoo group is UK support if I remember rightly. Yes been there done that. Sorry to hear on going issues he is facing normally a TX liver cures us. So that's interesting to know on. It's amazing we still learn from each other I feel alpha is still a long way off truly being uncovered in lots of aspects . Pm me for joining us I will give details we are closed group like Awareness and UK Support but we don't have a Patron we muck in discuss and exchange support freely 😊

[Mushroom-71]

Hi flo I have a1ad I was waiting to be listed for liver and lung but they found my antibodies are rare so just carry on with life as best as I can. I can't have just have a liver transplant because my lungs wouldn't cope.

[tgk62]

I was dx this March, ZI. They thought it was just fatty liver. I don't drink. I'm still having evaluations. I'm in the US.

[flo1]

I have fatty liver too many alpha do it's the back up from the protein we are unable to express even though we make small amounts of the stuff it ultimately effects our livers in time and this is why we should be known as and registered as liver disease with lungs on secondary ..even alpha patients are mislead referring to this as lung it's liver..liver first and foremost. Your chances of liver disease with alpha increase too over 50 there appears to be a gap life if it's not present at birth it forms in 5th decade ..so good your not drinking nobody should be with AATD I drank my whole adult life along with smoking and through no access to birth test g many more will ..so alpha will never die out . More research testing at birth would greatly increase our chances of survival this condition was only discovered in 1963 I was born 61 so way to late for many suffering today but no excuses to birth test now! It would save many young lives

[Hidden in reply to flo1]

I clearly did everything that would exacerbate the alpha1zz I have. I drank, smoked , drugged you name it...now I’m where I am!

[flo1]

Mushroom 71 so sorry to hear that it's not uncommon with alpha to be rejected for reasons you have outlined I was informed I would need a neck biopsy for liver transjugular as sides where it's normally done hold these knackered lungs and could cause collapse! ..its a lousy deal . I will most likely discuss biopsy on next apt on 10th Aug it's not something I am looking forward too . It was discussed last yr having a few intermediate probs this yr so feelings are it will be arranged post haste this time

I hate this blasted disease 😣

[Mushroom-71]

Well it is crap but unless people are checked before making babies, ain't nothing we can do, I also attended the adapt project at the qe hospital for quiet a long time., and was told about taking a tablet to slow the process down but as far as I know it still isn't avaliable I know it is in the USA. But good Luck for neck biopsy. X

[flo1]

Tablet? Sorry not heard of that , I have heard of augmentation therapy that is a replacement therapy for AAT , been in the States since 1987 but England NICE refuse to pay for us for it...usual...crap!! IV therapy replaces 2.5, 3% of what we lack not a big deal but enough to satisfy the many across the pond on it and most of Europeans too, only a few Countries denied it but UK has to be one of the biggest alpha patient related I mean, as we have a rather huge population etc..etc. We fought for the therapy a long time eventually we gave up and in, beating your head on barbed wire is not good when your this sick they know that and still do nothing for us. However on a lighter note Liver would not be indicated in this therapy it does not help it one bit... the lungs is up for debate on lots of levels and there are those in the UK still not convinced walking , diet and what I do daily for instance is roughly the same as having the gold stuff pushed into the vein once weekly by infusion. All up for endless debates Big Pharma money, Rare disease money and clinical trails ...and the circus continues, rare disease is very easy meat for lots of people involved in the business of helping those poor buggers like us afflicted whilst making loads of claims and lots more ££££ in the process, I would advise anyone with alpha to research it and know your business and body..This is a killer disease its not rare its just rarely diagnosed , we have masses of other stuff affected , and most of it not good either. I would know more than the expert as most of them listen when you know what your talking about it is utterly disgraceful this disease has never seen the light of day when CF for instance a sister disease of Alpha is out there discussed, treated and robustly heard . Something very , very wrong and disturbing for its poor relative Alpha One Antitrypsin Deficiency...but there we have it, if you can remember the tablet would be interested in hearing on that one!! ..I wish. I was under the Adapt clinic 5 yrs got nowhere fast, mostly they make bucket loads of cash out of us with bugger all in return.

[Hidden in reply to flo1]

I’d agree that Drs know less than a well researched alpha 1 ZZ.. I live in the USA and have friends who take prolastin IV. I can say only approx 2% reaches the lungs and my friends with the same disease as mine aren’t doing any better then me. I chose not to take augmentation. Makes me think our bodies reject and get rid of it as it is a foriegn body and derived blood product and my opinion is everyone’s blood is unique no matter how laboratory similar it looks.

[mauschen]

I have a massive liver, lung disease and multiple autoimmune disease. No one does anything about my liver apart from the odd ultrasound and once a fibroscan. I have NAFLD and NASH and wondered if I might be alpha positive? How would I go about asking for this test, should I ask GP , endo or at the lung clinic? I have a restrictive lung condition which is undiagnosed and obstructive which is mixed form asthma.

Thanks

[flo1]

uhb.nhs.uk/family-testing-f...

the above will do this ask your gp, or lung consultants to get the test ordered for you or ask e mail them yourself, they used to send out testing kits so your able to do this from home..I hope you get somewhere keep me posted on it and pm me if that suits better .. Wishing you the best, these Doctors need reprimanding as they are not fit for purpose in not watching or hearing the warning signs from you..let me know I am always checking my mails here ..good luck honey x

[Lonedrinker]

Hi Flo1,I am an MZ carrier.

I asked the doctor for the test to diagnose A1.He said my liver is functioning at 60%,I assume thats the antitrypsin production,that was about 7 years ago,just before I was 60.He said come back when you have breathing difficulties.He gave me no info on drinking or not drinking,or the best way to stay healthy.This disease is in my family,we have a ZZ and 2 of my siblings are MZ as well.Our parents both in their 80's,refuse to discuss it,they say there is nothing anyone can do so shush it up.I have realised that I HAVE shushed it up in myself.With the NHS being in the dire straights it is,is there any chance of me asking for a referral to have a fibroscan to calm my fears about the drinking I have done over the years? Yes,I have stopped,but would really like to know what damage if any I have done.

Or should I carry on shushing it up?

ps I agree with mushroom-71,everyone should have a health test before making babies,ain't never going to happen eh?

[gamesmaker in reply to Lonedrinker]

Hi. I have been seeing the liver consultants for years - the alpha problem has only just been diagnosed.. originally I was diagnosed as NAFLD and progressed to cirrhosis. I was advised that my blood line relatives should be tested - with varying degrees of willingness on the part of the GP! Apparently I have PiSZ phenotype and PiSZ genotype -so I have this from the maternal and paternal lines. I was assessed for liver transplant but was just short of the minimum criteria. On a daily living basis I have been stopped from driving by the DVLA - because of the confusion I get intermittently. I am teetotal (I last had any alcohol at all at a family wedding c. 1980-1990) - and only very occasional glasses of wine before that. I have never smoked. My sister also has known liver disease - she attends a different hospital.and has been advised to tell her team of my diagnosis. My fibro test result was 27. The problem for me is that I cannot find much information about this - apart from via the web. The consultants are keeping an eye on my blood results for ?? liver transplant in the future.

[SamHodge in reply to Lonedrinker]

Hi--I am also alpha 1 heterozygote. Pi*MZ. My actual level a year ago (thanks to 23andme ancestry test!) was 79mg/dL, just under normal range.

I also have Metabolic Syndrom, PCOS and fatty liver...getting Fibroscan on Tuesday. I wonder if having fatty liver is exacerbated by the alpha 1 protein getting trapped in the cells?

[flo1]

Gamesmaker referral to Alpha Specialist would be a starting block for you if your in UK pm me and I can give you details , the GP or Specialist can do this. It makes my blood boil over nobody is being advised on this stuff, its truly wrong, and awful for the people suffering this genetic disease. Lonedrinker my Mum and Brother both MZ both drinkers I was too up until 6 yrs back and I saw the light being a full blown and stopped, the problem is damage done time! I can't do much on or about it and neither can anyone else presently no medication for liver disease with aatd (alpha one) as yet, however if your concerned ask for a referral to a Alpha Specialist there are not that many happy to put links out for those needing them to liver experts here in UK. Let me know, I watch everything as I have severe lung disease and the thought of liver going too is one step to far, they need to birth test everyone of us and get us on targeted treatment therapy before problems occur so far no chance or fighting chance of them ever changing the review policy on alpha for this, we are locked out in the cold and its totally appalling, they could be saving our lives and believe me we are many its not rare just rarely diagnosed...something has to change for alpha one.

[flo1]

lonedrinker you can get any scan if you are prepared to pay! I would start making noise in the surgery and get them to get onto it for you print out as much as your able on alpha one lots of links on net and take it into them and demand they do the job they should be doing for you by that I mean looking after you. This is first and foremost a metabolic disease (liver) disease, as regards your parents I can't think of words on that right now but that generation seems to appear to be selfish and ignorant and non quering of anything in authority ..thank the darn gods we have progressed!

[gamesmaker]

Hi. Thanks for your prompt reply. Unfortunately I cannot have tests done on either parent as they are both deceased, as are their siblings (one has dementia so could not give informed consent). I also lost my husband not so long ago so he is not there for me (I am just feeling sorry for myself at the moment!). However my liver consultant in London (Kings) is good at explanations , and I have confidence in him, which is important - I am seeing him next in January, so I will see what that brings. He has discussed the possible need for a liver transplant with me. My daughter always comes with me to appointments - or failing that, my sister will come - two pairs of ears are better than one. I will discuss referral to an alpha specialist when I see him.

[Bearblood]

Hello Flo! I was diagnosed with alpha 1 anti trypsin deficiency with SS phenotype. the docs wouldn't have even found out but I have been dealing with URQ pain for the last 8 years and I was adamant about finding out what the problem was. I was a heavy drinker for 9 years but have been 8 years sober. The URQ progressed from periodic, to frequent, to now constant and uncomfortable over the last 8 years, Ive had a liver biopsy with clear results and was basically just living with the pain untill I was diagnosed with a fatty liver just over a year ago via ultrasound and immediately changed diet and excise lost 35 lbs but still have the constant pain. Are there any credible resources for Alphas with the SS phenotypes? I want to be sure about my course of treatment and what little I've found doesn't say that there is a connection to liver problems but does list lung issues specific to the SS.

[flo1]

Hi Bearblood , first off where do you live? are you US or UK? I can recommend Liver Specialists in UK for Alpha One. If your in the USA try calling the Alpha One Foundation they are most useful that side of the pond. They can be found easily on net. Many alpha's have NAFLD myself included. I am in UK. England to be precise. I would defo recommend you seeing a A1 Specialist for follow up , there is as yet no cure for us and the Liver is our primary so once they can fix this we effectively are cure, you are definitely doing all the right things currently. The reason I outlined follow up care is that monitoring purpose is essential keeping a close eye on you is vital. ..changes do and can ensue. If you let me know I can point you in the right direction in the meantime well done for your hard effort , work and honesty! ..let me know.

[SamHodge]

Also, as far as heyerozygotes at least:

ncbi.nlm.nih.gov/pubmed/245...

The results of their study: "Heterozygous A1AT states worsen prognosis, particularly in NASH and alcohol-related cirrhosis, and should be identified at presentation".