Siblings with PBC ?

[Cristina_Romania]

I have recently identified such a case in Romania, two sisters. I know it's a pretty rare situation.. anubody has experience or information on such cases? Would be interesting to know.

[Hidden]

Hi

I have PBC and my brother has Primary sclerosing cholangitis (PSC). He was diagnosed nearly 20 years ago and had a transplant in 2009 - he was 48 hours away from dying. His new liver is functioning well, although he suffers many health problems as a result of being so ill before his transplant. I was diagnosed in 2010 - when I was 48 and am symptom free at present. Consultant thought it was very rare, however they are both autoimmune conditions, so maybe that is the link.

L

[zipitydoo]

At a meeting i attended in the UK there were two sisters present with PBC.

When I was diagnosed it was suggested that my children were tested as well. none of them had the positive AMA but my eldest`s liver function tests were high. he was 17 at the time.

[Jtxx]

I have PBC/AIH overlap syndrome (diagnosed 46yrs - last year) as well as an underactive thyroid and vitaligo (both for many years) = 4 autoimmune conditions. I am AMA negative but still have PBC!

My mother had PBC (diagnosed 42yrs) and had a transplant (aged 45rs) over 20 yrs ago and died 8yrs ago (aged 57yrs).

Her older sister also has PBC (diagnosed 60yrs), 2 yrs after my mother died. She also has an underactive thyroid (for many years) and is currently 66yrs old.

My sister (44yrs) and cousin (daughter of my aunt who has PBC and underactive thyroid above) (38yrs) both have underactive thyroids (both for many years) and my younger cousin died of addisons disease (aged 10yrs) almost 22 years ago. - again all automimmune conditions,

They say that it is very rare for a mother and daughter to both have PBC and that it is genetic as opposed to hereditary.

They also say that if you have one automimmune condition you are more susceptible to getting other ones.

Hope this information helps. x

[Elmac]

My sister and I both have PBC, my mother also had it. My other sister has thyroid problems.

[Jtxx in reply to Elmac]

Are you all AMA positive? I a AMA negative. My sister's LFTs are ok. What ages were you all when diagnosed?

[SLWB]

According to my doctor it is not hereditary, however does run in certain blood lines. I was advised to get life insurance for my 18 year old, sooner then later.

[Missboro]

I asked my consultant if my 2 daughters could be checked for pbc and he told me they couldnt unless they started having any of the symptoms.

[Lisa30]

to hazeleyes - i was told exactly the same about my daughter, but it is a worry.

[Cristina_Romania]

As far as I know , though odd, your doctors are right. It is allegedly of no big use to know if you have PBC if you are not symptomaticd (that is if you feel just fine) because PBC treatment is mainly directed to the symptoms, it doesn't actually cure the disease.

As far as they know it isn't a hereditary disease and there's no way of telling (so far)why some people in a family do get PBC and other's don't, why cases of mother-daughter or of siblings are quite rare.

[Val02]

I asked my consultant about testing my children and he said he thought it would be a good idea as there is a chance of passing it on to them, but not until they were about 18 years as it could develop during adolescence. Amongst other reason I think this is a good idea because they will always wonder if they are going to develop PBC and if the test is AMA negative that gives them/me peace of mind, and if its positive they can be treated before it gets too advanced as we know the sooner treatment starts the better the outcome. I would ask again if you are not happy about your children not being tested.

[Cristina_Romania]

From what I know, I would suggest not to panic. Even if they have it (as my case could be also, as my mother had it), again, treatment is symptomatic (does not cure the condition itself), which means whilst they have no symptoms, there is not much treatment they can be given for now.

Of course, a healthy lifestyle, not smoking, not too much alcohol, healthy and rich diet etc etc is a good advice for anybody for prevention of health problems.

Also, as far as I know there are no known (reported) cases of PBC in adolescent people (females), and even more it is not that offen diagnosed (aka symptomatic) before 35-40 ( I do have a patient diagnosed at 30 in Romania, saw somebody here is 22 and has PBC, but these are exceptions). Also, there is PBC with AMA negative (5% of cases?.. if Iremember right)... So I would say, ask the consultant & talk to the PBC Foundation.

Just don't panic. There are chances they will develop it,, but not that high according to doctors. I, personally, am not at all stressed. I do yearly blood tests and echo, for general check-up of my health, but if I will have it - there's nothing I can do to prevent it (beside a healthy lifestyle, which I try to have), plus - WORST case scenario, if I'll have it - there is good life with PBC too, it is NOT a sentence.

All the best.

[Val02]

My consultant (others may have a different opinion) was quite certain that if the antibody had not developed by 18years old it was not likely too. I think the rate of young people being diagnosed is so small because they are without symptoms but with better screening it may well be different. Put this way if I had been tested in my teens the antibody would have been present maybe even from birth but like most teenagers I was healthy and not in need of blood tests. From my own childrens point of view I would encourage them to take a pro-active stance but we are all different in how we would want to approach this.

Personally my life is not good with PBC (I know we are all different) and being ill from my early forties I very much feel my youth has been snatched from me; but maybe Im just having a bad day.