PBC....Now another shock

[Palula]

Just been back to the specialist and been told I also have Antitrypsin Deficiency, which is a hereditary default that's causing my PBC...

Has anyone else been diagnosed with this.

[Hidden]

How can they say that when they don't know what causes PBC..........

I just had a quick read up on google and god love you, I am sending you hugs and hope you can de stress a little as you must be out of your mind at the moment ((((X)))) Linda

[Palula in reply to Hidden]

Hi Linda, was told the Antitrypsin deficiency causes some kind of blockage and scarring of the liver. I have done a bit of homework on Wiki. Think its going to take a while for me to digest all the shocking info

[Hidden in reply to Palula]

I have just had a read of wiki and I think it will take more than a few reads for that little lot to sink in. X Linda

[Palula in reply to Hidden]

Yep it does go into detail a little, some things I don't understand, but it tells you the basic's when your doctor doesn't

[SC49]

I had a test for Antitrypsin Deficiency about 6 months after i was diagnosed with PBC but it came up clear. It's interesting that your doc suggests that it's a cause of PBC. I thought that they hadn't identified any causes yet

[Hidden in reply to SC49]

I checked my blood results earlier and I definitely did have the Alpha-1 antitrypsin (A1AT) blood test just prior to diagnosis. (I was diagnosed with PBC due to itching (fatigue at the time I have no longer, tiredness yes) plus abnormal LFTs and GGT and the AMA test.)

Apparently the Alpha-1 antitrypsin (A1AT) is checked when a patient presents with abnormal LFTs as Antitrypsin Deficiency can be the cause. And this deficiency is hereditary.

My A1AT result by the way showed it to be perfectly within normal range.

[Axl888]

I don't think your doctor should be saying that ... goes against everything that the PBC Foundation and most consultants say .... is this your GP or specialist doctor? I have always been led to believe that no one knows the reasons for PBC .... indeed, I have participated into research to try to find the cause and given my DNA!!!!!! The PBC Foundation would have informed us about this if it were true .... surely?

[Hidden in reply to Axl888]

Agree there Ax1888, no doctor should say that something is causing PBC. Also if this A1AT was the cause of PBC then surely everyone on this site would have an abnormal test for A1AT surely.

Some on this site I have noticed have not only PBC but also AIH.

I think what it means if you are unfortunate to have something else liver-related it can be a bit more complex as one could perhaps work against the other and vice-versa?

[Axl888 in reply to Hidden]

I have PBC and AIH overlap .... I agree with your sentiments .... life's for living. PBC does not play a big part in my life .... I was devastated when I was first diagnosed but that was more being frightened because of lack of knowledge. Now I am more clued up and have met others in person and online, I realise it is not a death sentence ..... I actually feel better now than I did 10 years ago. Urso works for me so I am one of the lucky ones.

[Hidden]

Hello Palula.

Well I don't know how that conclusion has become as it's not actually known as yet how PBC is caused.

You can have various liver problems and it doesn't lead to PBC. For eg thinking about it, people can contract certain types of Hepatitis (the ones that you can have vaccinations against) and I'm certain that some patients who get treated for this don't go on to develop PBC. If that is the case then how does the other auto-immune condition PSC come about?

I have no idea where my PBC came from but I suspect that maybe hepatitis vaccinations for my job several years prior to starting with the itch could have been the cause, well the trigger.

Sorry but it just doesn't add up to me there.

I wasn't sure what this condition you mentioned was until I looked and do know sort of (sure I had one of those a few years ago and mine was normal as it goes by A something or other by abbreviation).

Now I had a quick glance at this website below and it states that some people can go on to develop liver disease but it does not state which one and from how I read this bit the cause is not due to PBC but in fact due to the Antitrypsin Deficiency apparently.

patient.co.uk/doctor/alpha-...

I accepted I have PBC some time ago now (diagnosed Dec 2010) and I just simply get on with living, no time for wasting it on PBC. I do find interesting reading certain things about PBC and how others are doing but I often correlate what I think and what's not important.

With lots of conditions, things are best dealt with as they come and that is how I get on day-to-day, week-to-week. I would rather spend my life now living and enjoying it just in case the future not so good. After all as the saying goes:- "A life without risk is a life not living".

[Palula in reply to Hidden]

Hi Peridot,

Think I stated in my post that the Antitrypsin Deficiency is hereditary, caused by a faulty gene. It was a specialist I saw and was told it causes a blockage in the Liver and scaring, weather this is the cause of my PBC I don't know, as you can imagine I was in a sort of daze and shock so am not 100% sure if she said it was the cause of PBC, but the outcome is the same, I have both, as well as an under active thyroid.

[plizzard]

I have never heard of it , what does it do, I diagnosed with pbc 15 yrs ago.was always told pbc was heredity no one else in my family has it!!

[Pat_H in reply to plizzard]

Hi plizzard

I'm the same - no one else in my family has it, nor appears to have had it back as far as my grandparents' generation. (They died in 1916, 1930, 1939 and 1953). I haven't looked any further back.

[Christina1205]

I dont have pbc but I recently found out that I'm a carrier for alpha antitryptin deficiency. My mom passed from complications associated with pbc in 2010 I am inclined to believe she had this deficiency.