Help! Should I get tested for PBC?

[pixiecib92]

My mother was diagnosed with PBC about 8 years ago, since then new findings have come to light that the disease is hereditary from mother to daughter. I am 20 years old and I wondered that if I do have PBC, It could be discovered now rather than later to save liver damage in future or does it not happen until I reach my 30/40's, or after damage has been done?

[Cristina_Romania]

Hi,

PBC is not a hereditary condition. There is indeed a percentage (they say small, around 5%) to get PBC if you had a close relative (even more a mother) with PBC. But as long as you are fine, as long as your LFTs are normal, even more as long as you are in your 20s (PBC is quite rarely diagnosed before 30), you are probably doing no good in worrying.

I say this as a child of a PBC mother who died of PBC (one of the rare cases in which a PBC patient died of and not with this condition). Compared to you I have more reasons to worry, yet even so, too little reason to worry though. I am 31, have a few, small reasons to be a bit worrisome (reasons which, taken individually and except the history with my mom, would be no reason to worry), and I have pondered this quite a lot, deciding recently to go and have the AMA test. Just to know, considering as said a few things. That aside, I feel perfectly, do not eat meat but 20 times a year, in average, have a healthy lifestyle, take various herbal supplements for helping the liver - and that's that.

I would suggest - reach out to the PBC Foundation, read their leaflets and Compendium, find out more accurate details about what this condition actually is, and then just enjoy life. Excessive worry, whilst there are no factual reasons to worry, can do nothing good, ever.

[pixiecib92 in reply to Cristina_Romania]

Thank you for your reply. Im not worried as such, i ask because my mum has recently signed up for research and was told that i should go for a blood test just to check as they have found that there is a possibility, however big or small. Shes more worried because i have been suffering from tiredness/lethargy for a while, her main symptoms.

[Cristina_Romania]

The decision to do the AMA is yours only. Whilst being in a somehow similar situation, I just suggest to first get properly informed about PBC, the genetics of it (as far as is known so far - check out the PBC Genetics Study @ The PBC Foundation). Talk to the PBC Foundation anyhow, I would say :).

[Cristina_Romania]

PBC Foundation's Compendium on "Living with PBC":

"PBC AND THE FAMILY

One of the common concerns of those with PBC is what is the risk that another member

of the family will develop PBC?

The prevalence (that is the number of people in a given population) of PBC does vary

considerably throughout the world. For example, PBC is relatively common in those living

in northern climates, such as Northern Europe and in the United States and Canada.

In contrast, PBC is rarely seen in people from the Indian subcontinent. PBC may also

be seen more commonly in some ethnic groups, such as the first nationals in Canada.

Within these higher prevalence areas, there is an ethnic component so that PBC is

found much more commonly in Caucasians than those of other ethnic groups. The study

from Eric Gershwin in the United States showed that for every one hundred people with

PBC, ninetyeight will be Caucasian, although PBC has been reported in almost every

racial group. These observations suggest that there is a genetic component to PBC. This

has been confirmed by genetic studies of people and families with and without PBC. It

is believed that a person’s genetic make-up will be just one of many factors that may

determine whether someone gets PBC and perhaps how quickly it progresses.

There is now little doubt that PBC does tend to occur more commonly in families.

Data collected by David Jones and colleagues in Newcastle have suggested that the

prevalence of PBC in first degree relatives of those with PBC is about 1.34% – that is, for

every one thousand first degree relatives, such as brothers, sisters, parents and children

(quite a family!), thirteen may have, or develop, PBC. For siblings, the risk is 0.82% and

for children it is 1.78%. This risk is greater in female relatives (so that for female siblings

the risk is 1.65% and for daughters it is 3.43%). Twin studies also suggest a genetic

component: Gershwin has shown that if one twin develops PBC, it is much more likely

that the other twin will develop PBC too if the twin is genetically identical, than if the

twin is non-identical.

PBC is not alone in occurring more commonly in families: some other diseases, such as

diabetes, or some forms of arthritis and thyroid disease, are also more likely to occur

in families."

[Axl888]

Hi there I have pbc and know many opeople now with the cndition. I don't know of any though that have a mother or a daughter with the same condition so I think it is fairly small. As no one knows what causes PBC, I fail to see how they can now say it is hereditary??? I would think very hard before having any tests to see if you have PBC. Once you are diagnosed, if you live in the uk, there is no insurance company that will give you life insurance cover, this may impact on getting a mortgage and all sorts of credit in the future. Travel insurance is also high.

[pixiecib92 in reply to Axl888]

They say there's a possible link because they have found auto immune conditions to run in families. My mum has signed up for research and they have told her to advise my aunt, me and my nan to be tested. I'm in no rush, I'll mention it to my doctor when I next go and if they advise me to do it, I'll do it but if they say not to worry, I wont do it unless I feel unwell

[Cristina_Romania in reply to Axl888]

According to the research available and known to the PBCF and their specialists, PBC is not hereditary, but there is a certain, though small, genetic implication in developing PBC.

[EAJSWW]

I think this is a very personal decision, although more is learnt each day via the genetics studies being carried out, there is still a lot tht remains unknown.

When I mapped my family tree recently it is absolutrly choca block full of auto immune conditions on both sides of my family. I have PBC / AIH overlap and although no PBC has been diagnosed in any immediate family, AIH has. At least two of my daughters have auto immune conditions my eldest who is 18 chose to be tested for AMA due to symptoms she was having, it was negative but she is aware this could change.

I have just tested positive for other Auto immune antibodies and am waiting to see what this means for me.

As research improves and as the genetics studies continue no doubt it will cause many more quetions to arise which will need more research to answer. It's the way it is, but they have PROVEN hereditary links between auto immune conditions. It's a tough one!

[Val02]

Hi You must think carefully about being tested. There is a plus and minus side to this. If you get tested positive you will never be able to get a mortgage, life insurance etc. If you get tested and dont have the antibody then that would give you the peace of mind you are looking for. If you are symptom free how desperately do you want to know or could you get on with your life without worrying endlessly. If you feel you are developing symptoms then you should see your GP anyway but make sure you let them know about whether you want the antibody test or not and discuss that with them.

Remember the chance of you having PBC because your mother has is quite small; so give yourself the time to think this through before you decide.

Good Luck...and fingers crossed for you

[Jtxx]

My mother had PBC(she died nearly 9yrs ago). Her older sister was diagnosed with PBC about 6yrs ago and I was diagnosed with AIH/PBC overlap syndrome last year. I think my Aunt is AMA positive (not sure what my mum was) however I have AMA NEGATIVE PBC. Even rarer. I was diagnosed with a liver biopsy and high LFt's. I am also SMA positive (diagnostic test for SMA). I also have 2 other autoimmune conditions (4 in total-strong autoimmune conditions run in my mothers family). I have a 22yr old daughter and a 20yr old son. They are both aware of my condition but unless they develop any symptoms I am

not keen for them to get tested for the AMA antibody, given that mine were negative and I still have PBC! It would create all sorts of insurance problems for mortgages etc. Just need to keep an eye on them. It's a very personal decision. Take care. Btw I am feeling really well at the moment. X

[pixiecib92 in reply to Jtxx]

Thanks for your responses. My mum has only told me what she has been told from a doctor because she has signed up for research, but then again they got her diagnostics wrong several times, even accused her of being an alcoholic!

They want me, my aunt and my nan to be tested due to auto immune conditions seem to run in families. I'm in no rush to be tested at the moment, but I will mention it to my doctor the next time I go. My mum is worrying because I have been really tired, achey and getting a lot of headaches at the moment, but generally I feel fine.

[Jtxx in reply to pixiecib92]

I know it is a difficult one for you and If my daughter was having symptoms I would be the same as your mum. Good luck. X

[Jtxx in reply to pixiecib92]

My aunt and I have also signed up for the research programme. X

[littlemo in reply to pixiecib92]

Just to echo what the others say I personally would not want to be tested if i were you as it may have major implications on you getting mortgages, insurance etc. Your symptoms could be down to something as simple as anaemia. You should contact the pbc foundation they will give you good advice. I once asked if my daughter was at increased risk and was told no not necessarily and advised not to have her tested for the same reasons i just mentioned. Take care. good luck hope you feel better soon.

[Jtxx]

Sorry meant to say SMA antibodies diagnostic of AIH x

[mumofthree]

Its personal choice at the end of the day. I was diagnosed with PBC Jan 2011 after having a series of blood tests by my rheumatologist. One of the blood tests showed I had PBC. I had suffered for a many years with very painful muscles and joints and had been feeling tired but put that down to either being overweight or lack of sleep due to the pain.

If I had not gone to my rheumatologist to check for rheumatoid arthritis I would have been blissfully unaware that I had PBC. Other than being on URSO I often wish I did not know I had PBC because as soon as I was diagnosed I read up about the condition and it frightened me to death. I began convincing myself I had more if not all of the symptoms (I didn't), and wallowed in self pity....I had a proper rollercoaster of a year but I have come to my senses now.

I often wonder if my elderly mother has PBC, she has not been diagnosed but I recognise many of the symptoms in her but they can also be linked to other illnesses too. I mentioned my concerns to my sister and we made the decision not to mention PBC to her or to the GP. She has many other debilitating conditions to cope with as it is and we don't want her to have to under go more investigations. Also she doesn't know I have anything wrong with me so I would have to own up to having PBC.

Your only young.... you shouldn't be worrying yourself about these things. Enjoy yourself and make the most of your life.

[pixiecib92]

Im actually quite surprised that a lot of people are saying not to be tested due to mortgage/insurance issues. Id rather be tested to make sure im healthy/ have correct meds, than to have an illness and suffer due to money problems. When i have my next check up, ill as my doc about it. If they advise me to then I will do it. My mum will be staying with me this weekend so I will ask her to explain more to me

[Hidden]

Hello.

Well had I never have developed the itch in early 2010 I'd never have known I probably had had PBC 'for a few yrs' (according to the consultant on diagnose Dec 2010).

Quite frankly, personally I'd rather not know certain things myself as then one could spend far too much time worrying about something that might never happen.

I'm not sure if you are in England as here I think one would have to have a definite and positive reason to have the AMA blood test using the NHS.

I know I would gladly have lived the last 2yrs far better than I have had I not have developed the itch as in my mind, "What you don't know, you don't worry about'.

[EAJSWW]

"what you don't know you don't worry about"

Thing is this isn't always true.... the imagination is one of the most powerful tools a person has and the imagination can even cause physical illnesses such as stress related illnesses.

If a person has certain symptoms and doesn't know what they are, you can imagine so much.... If a person close o you is ill and there is a hint it is hereditary, the imagination can and sometimes does play cruel tricks.

There is no right and no wrong answer to the dilemma of whether to be tested, it comes down to peoples experiences.

I know of people who HAVE got mortgages since their diagnosis and I and many other have life insurances. there are all sorts of policies which may or may not include exclusions... but most with PBC don't die of PBC so having it excluded on a life insurance policy is a risk worth taking for many.

I would say, get your facts straight, work out why you want to be tested... if you think that the positives outweigh the negative, then go for it... But be mindful as others have said, you can be AMA negative and still get PBC it will only tell you how you are doing now.

[Axl888]

Hi there EAJSWW,

Could you let me know where I can get life insurance please. I thought I had exhaused them all. I have not had any luck in getting life insurance from anywhere but have to say not tried again in the last 18 months. Thank you

[emetobella1229]

My mother was diagnosed with PBC about 7 years ago at 47 (hers was advanced at diagnosis). I cared for her during the worse of her illness and through liver transplant, not thinking or knowing at the time that I carried the gene. I'm glad that I didn't know it then, as it was painful to watch & I would have freaked out knowing what I now know.. but, I did choose to do AMA test which has come back positive. I am 28 years old with normal LFT and am choosing to view this in a liberating way. I am able to know early on and be pro-active while my mother was not as fortunate.

[SandyBoyter]

Hi Pixie. I appreciate and respect Cristina's response. I do feel that this is an inheritable disease. They told us the same thing (that it's not really) - but I have 4 members of my family that have/have had this disease. In my opinion, and for my family, it definitely is inheritable. We are mostly Norwegian. I don't want to make you worry more. From what I understand, it possibly takes a key to turn it on. I also think a lot of environmental factors come into play. I also have heard it skips a generation. I do know it has passed from a male to a female in our family (which is surprising). I agree with Cristina that you are young and most likely if you were to get it, it wouldn't be this early. It typically starts later. I think the average age is 51. As Cristina said, there is nothing that you really can do, but live your life (and try not to worry) and take care of yourself in every way, take care of your body, when you go for your yearly wellness appointment, have them test for AMA. That's what I have done. So far, I am AMA negative, amongst a good number of family members that are AMA positive. It's good your mom was able to get in the different trials/tests. I know Mayo just got done with one and is starting another one soon. I'm trying to get us in it because we have lots of girls and lots of AMA positive girls....and lots of non AMA positive girls - so trying to help research figure out what the difference is. There are conferences going on to learn more about it - and it includes classes for family members that might be helpful for you. There is one in Houston this weekend that I am attending. They are making huge strides in gene research. I feel like any day, they will have some better medical alternatives. Take care.