Cirrhosis as a result of Alpha-1 antitrypsin deficiency (AATD) - does anyone have any experience of this?

[IanM1957]

Hi Everyone,

I was recently diagnosed with "early stage cirrhosis secondary to Non-alcoholic fatty liver disease" and today I had an endoscopy which showed several (non-bleeding) varices.

I was chatting to my brother this afternoon about my diagnosis and tests and he just happened to say "do you remember about 10 years ago you were diagnosed with AATD?" (I had actually forgotten all about that) but the more I have read about it the more it seems to fit my condition - I know, Google and other search engines can be dangerous but it can be so tempting to self-diagnose!

I'm going to call my liver nurse in the morning to see if my AAT levels have been checked recently but, in the mean time, I wondered if any of you good people in this community have experience of this deficiency.

Cheers

[Hidden]

Hi

I'm sorry you've been diagnosed with this,I don't have any knowledge of this but I'm sure someone will be here soon to help you. Take care of yourself

Lynne

[ScotKat3]

Hi,

Sorry to hear of your recent diagnosis.

Yes my relative has this and I am a carrier.

My understanding is that this can effect people's liver and/or lungs to varying degrees.

There is an AATD website which may be helpful but feel free to ask anything here as well.

I'd definetly recommend a further gp appointment though just so they can fully explain your own AATD diagnosis and it's connection.

[freddie76 in reply to ScotKat3]

M y hubby was diagnosed in 2006 as zz alpha. Transplanted in 2011. Been doing great since. Make sure u are seen regularly by a hepatologist.

[Hidden]

Good morning IanM1957,

I think the best thing to do ,as you say, is to contact your own liver nurse who will have access to all your medical records and information .

I have included a link to British Liver trust information on AATD

britishlivertrust.org.uk/in...

and also cirrhosis and NAFLD

britishlivertrust.org.uk/in...

britishlivertrust.org.uk/in...

I hope this is useful for you

Best wishes

Trust9

[IanM1957 in reply to Hidden]

Thank you for the link(s) - very helpful.

I've spoken to my liver nurse, she's going to speak to the consultant so that he can decide whether or not to call me back in for specific blood tests for AAT

[flo1]

I was diagnosed with aatd in 2007 end stage emphysema. AATD (as we abreviate it) is first and foremost a Liver Disease. You should of been put in touch with a AATD clinic if your in UK we have 3 ..after diagnosis. You further should of been monitored by them on a annual basis. There is one in London and 2 in Brum...if you need details let me know you need a Specialist in this field urgently. I would ask your Consultant to refer you at this point. AATD is a glyco protein deficency the biggest the body makes! Its made in the LIVER...so we are first and foremost Liver people those with full blown AATD deficency do not make enough protein and what little they do can stack up in the Liver and cause Liver damage many have transplants with Liver, and most of those severe enough (like myself ) go onto to have a double Lung Transplant (I am being assessed currently) I was diagnosed at age 46 and 45 when this happend to me with no 'prior warning' healthy all my life! Its very cruel. Lung disease is brought about by not receieving the vital protection due to the low levels deficent patients make the Lungs remain unprotected from birth! So effectively everything is attacking them and wiping them out...especially cigs, I smoked for years never knowing I had a genetic time bomb in me, they refuse to test for the disease to date, its scandalous! Thereby most Alpha's go on to have severe or end stage diagnosis young usually in 4th decade (as was my case) my liver is enlarged most of us have this too but I am fortunate enough to have been discovered and referred to Specialists in this field you need one! This is a genetic disease one fault gene from Mum and one from Dad..its essential your seen and treated effectively at this point...glad your lungs are okay I assume they are? I run a support group for alphas please pm me if you need more info. and is the second most fatal disease on the planet...we are a sister disease with CF...for your info. I am frankly astounded you were never referred to a Specialist after diagnosis.

[IanM1957 in reply to flo1]

Thank you flo1 for all this information - I definitely need to read up on this!

My lungs are okay, in the sense that I don't have emphysema or any other COPD, but I have recently been diagnosed with possible cancer in the lower lobe of my right lung (due to have the lobe removed any day now)

I've mentioned the AATD to my liver nurse; my lung specialist and my GP but so far none has suggested any further action - I'm due to see my GP again in 4 weeks' time and will raise this with him again.

Thanks again for your reply.

[Marleydog116 in reply to flo1]

Flo can you give me some info my alpha 1 protein level was 0.8 consultant said it was borderline and my genotype is piZM do I have the condition? I have been diagnosed with significant liver fibrosis I don’t smoke drink and my diet has always been good so I’m wondering if my liver disease is a result of this AATD? Cheers

[flo1]

alpha1.org/Newly-Diagnosed/... There is a video that accompanies this link it is a good enough place to start. This is a mighty 'complex disease' its also written for and to those in medical profession, it takes years to understand and fully absorb what is being said, they mostly talk in med jargon....So as I have studied this since 2009 myself I am familar a novice however will be overwhelmed. Keeping this simple for starters, if you need further help let me know. I wish you the best in the Lung situation and that Cancer is ruled out...The liver nurse should know on aatd its up there as a top cause after alcholol for related cirrohosis expect our liver disease has nothing to do with drinking its to do with the protein not being able to release from the Liver which is the protein that protects the lungs (think cling film) a fine membrane that most people have as added protection is what we lack and that is made in and from the Liver, so it is Liver first not enough protein (and what little we make) cannot get relesed to the Lungs ...we have a huge amount of systemic factors involved here as the 2 biggest organs in the body are essentially affected by the gene defunction, this is a genetic disease !, and inflammation within the body on top of this ...for now its enough you learn the basics..but I urge you to find a Specialist, if your in or around London The Royal Free are excellant, please pm me for details , of AATD Clinic, I see them and I live 250 miles away, there are 2 further clinics n Birmingham...again let me know , if you decide you need more info, I wish you the best very best and please keep me posted on progress etc. All the best.

[IanM1957 in reply to flo1]

Thank you, once again, flo1 for all this information - I have a lot of reading to do!

I had actually forgotten that I had been told that I had AATD - thinking back, it must have been in 2008 when I was hospitalised with a bout of unexplained jaundice and a swollen liver and spleen.

I must have told my brother about the diagnosis because he eventually raised the issue with his GP and was tested by the Yorkshire Regional Genetic Service - his diagnosis was - "Pathology Investigations

Alpha-1-antitrypsin phenotype PI MZ

Analysed by Protein reference Unit, Sheffield.

Alpha 1 Antitrypsin Phenotype

Carrier of the Z deficiency allele."

I would guess that means that I, too, am a carrier of MZ - I don't know if that makes me any more susceptible to cirrhosis or if it is purely a coincidence?

I'll keep pushing my liver nurse and consultant and my GP for answers and will let you know, as and when, I get any further information.

[flo1]

Sorry thought they tested you? Confusion on this. Not necessarily your brother is a carrier..if you have developed liver disease I suspect your full blown ..ZZ there are over 100 alleles with aatd..important to know. If your mum and dad have 4 kids 1 in 4 will get the real deal nasty genetic dysfunction ie...full blown rest will carry as in case of mum and dad that found each other and got the whole thing started...MZ are usually less a lot less affected which is why the produce kids with this..not knowing. However they are 50 per cent affected in comparison to a normal allele MM who are 100 oer cent covered. You need to be tested and find out a serum count if u have that put here..

[flo1]

It's been reported that MZ actually have higher counts than a norm...which is astounding making them a real force of natural selection..this disease originates from the Vikings northern Europeans...most of us get the common garden Zz my case I got super rare Z Mmalton sourced in Sardinia I never knew we had Italian Gene's!!! So the Z is Scan and Mmalton Italian..I have meet only 2 in my yrs on groups 9 yrs. The serum count is as deficient as ZZ on my particular type of gene type and keeping in mind there are over 100 rare types..this disease is not rare at all but is very rarely diagnosed..please use Google and check it out huge amounts of info there ..good luck

[flo1]

Can I ask who diagnosed you and where that was done ? Did they give u paperwork with gene type and serum count?

[IanM1957 in reply to flo1]

I really can't remember where, when or by whom I was diagnosed - I vaguely recall being told it was a "genetic thing" so I should tell any children and siblings.

I have no children and only have one brother - perhaps I should have mentioned we're identical twins, so I assume we share the same inherited genes?

I can only assume my AATD was picked up by a blood test, I was never offered, or told about additional tests so nothing more was done.

Unbeknown to me, my brother raised the issue with his GP and had a blood test and, subsequently, was referred to his regional genetic service.

The next time I see my liver consultant or my GP I'm going to ask to be properly tested.