PBC Foundation
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Is it genetic

Hi, I have AIH/PBC overlap and one of the questions that has been bugging me is " could this thing be genetic?"

I have not seen or heard from my father since I was 3 years old (50 next month) and no one on my mum's side of the family can ever recall anyone with any kind of liver disease so me and my brother decided to find him because he is worried about me and we both needed answers.

Now according to my father, he had twin sisters and in 1956 one of his twin sisters died at age 17 due to liver trouble. He said that back then nothing much could be done for serious illness and unfortunately she died....he asked why so I told him everything. I met my two sisters who I had no idea existed and told them to get checked out for AIH/PBC and so far one of them has AIH.....she said she thought she was healthy.....she has had no trouble except some tiredness but she has children and put it down to running around after them all day.

It makes me wonder how many of us have other family members with either or both of these conditions.

xx conniefused

9 Replies

Hello conniefused.

Well I'd not worry about anything like this myself.

I say this as I did somehow get it into my head that maybe my grandma might have had something like this but then thought differently due to the fact she had blood tests in thew 2yrs prior to dying. So I put that away as I doubt she had. My mother died aged 43 back in the late 1980s and she never showed any signs of anything like this and that I'll never know. I was 46 when I started itching and was diagnosed at the end of 2010.

I have a daughter myself who got a bit of a skin problem in the few days prior to giving birth to her own daughter 5yrs ago now but she was checked out and nothing untoward (I didn't know I had PBC then, started itching several months later). I'd not suggest my daughter (I have a son in his 20s too) go and be checked out as to me why worry about something now as there'd be nothing to be done about it.

My year younger sister had a brain haemorrhage 6 months ago and she is still trying to make progress from the brain damage. Now our mother had a brain haemorrhage and died several hours later (new technology my sister had wasn't around for our mother) and it has been suggested to me from a friend that it can be hereditary but I've no inclinations at all to go and be checked out for an anuerysm that my sister had. I'd rather not know and not worry about something that might never be and meanwhile spend needless time worrying about it.


I have heard that, yes, there is some information to indicate that PBC is more prevalent in families, passing between twins or from mother to daughter. My mother had PBC and was diagnosed about the same age as I have been, but I think she was further along than I am when she was diagnosed. I never dreamed of the hereditary factor until about 6 months ago when my enzymes kept going up and nobody paid any attention to me. I then mentioned my mother had it (I thought it was from her cancer) and they suddenly took me seriously. I know I've had it at least 5 -8 years. I'm now stage 2, and probably could have went on treatment sooner if someone had paid attention to me. I already have some fibrosis in some of my ducts. I hope URSO will slow me down so I don't progress anymore. But yes, there is a genetic component to all auto immune disease.


That being said, lots of people get it with no hereditary bits either. So, I would be aware of your daughter and her symptoms, but not obsessive either. If I had known it was hereditary, I would have gotten the AMA test earlier.


I was told by my consultant that there could be a genetic link but I couldn't think of anyone in my family who had liver disease. I think we are still in the dark as to why this condition manifests itself in some people with no apparent reason.


Hi everyone....yes I agree with all your answers, my sister only went for testing because she felt under the weather. She has three children and thought her exhaustion was due to looking after them. My other sister is fine and has not been tested as yet. My sister who has AIH said yesterday that a couple of years ago she had a barrage of bloods done because of the tiredness and back then she had slightly raised LFT's and the doc said that there was nothing to worry about, she also had another odd LFT last year and still nothing further was done. It was only when she told her doc three weeks ago about me, that they looked further and found AIH, she had a liver biopsy last Friday which was pos for AIH .

There could be some truth in it xx conniefused.


It seems that in my case it is genetic as well. My cousin (on my father's side) and I were both diagnosed, with PBC only, the same year (1991) - my cousin is now on the transplant list and I'm stage 4. We know our grandmother died of a liver disease but don't know if it was PBC.


Hi, yes pbc can be genetic, my mum had pbc. None of my brothers or sisters have it. When mum told us about pbc they all chose to be tested, i chose not to, i didnt want to know. I found out i had pbc nearly 3yrs ago during routine blood tests.


Hi, It seems to me that no one is 100% sure. I was told that it was not genetic. Nobody has ever had it in the family that I know of.


Hey I know this is old post but thought I'd tell you that there is a genetic link - my mum had PBC/AIH overlap but was diagnosed too late to treat - she was very poorly but never did receive a transplant - treated at Kings as I am. My consultant did try to locate her med notes but they have been lost. I understand it's not hereditary but rather familial. My two sisters are clear. I have had other AI complications that my mum didn't have and vice versa.


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