Elevated LIver Function Tests

After 5 years of elevated LFT's , 2 liver biopsies , HIDA scans , MRI's , ERCPS with schpincterotomy ,gallbladder removal .no doctor could confirm PBC .. Today I went to a Dr with 50 years experience and was told his patients travel from Italy and Germavy to see him.. I'm in the U.S. .. After studying my labs and biopsies he diagnosed me with a genetic disease called Benign Recurent Cholostatsis...I can't find much info in the rare condition or find anyone with this ..so I thought I would start here...any advise appreciated ..thanks

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  • Hi NycGirl

    Welcome to our group, I hope someone will be able to help you. I have of course not heard of your rare disease but looked on line. Did you find reference to this on nih.gov which seems to be an agency of the U.S. Department of Health and Human Services

    ghr.nlm.nih.gov/condition/b...

    For me PBC was diagnosed in 2006 by blood tests followed by a biopsy. I stayed relatively symptom free until 2014 when the so called itch of PBC became active and I have been battling with it ever since. Fatigue is also something that happens in PBC and for me I also suffer with dry eyes and sometimes painful hands.

    There are quite a few different groups on face book, have you searched there to see if there is a group with your rare disease? Perhaps your specialist knows of others and could suggest a way of starting a support group. I know how thankful I am for the PBC Foundation and them being there with forum like this.

    I do hope someone on here can be of more help and that you can find some support, if not this is a great group which shares joys and woes so any time you need to get something off your chest I am sure there will be someone listening.

    best wishes

  • Hello NycGirl.

    There are other liver disorders and I expect they all throw up abnormal LFTs. Usually a liver biopsy can confirm PBC due to cell changes. I was diagnosed with PBC due to blood work, symptons (at the time itching and fatigue) and it was found I had a high titre of antibodies AMAs.

    Someone recently posted on here that they had been diagnosed with PBC but then added in the word 'cholangitis'. i was looking on our UK NHS and Patient Line sites and Cholangitis is something else liver-related. PBC has had a name change (I don't agree) and it ends in the word Cholangitis now so I think it might have thrown some confusionup but there is another liver disorder known as PSC that ends in Cholangitis.

    I've not heard of the name you have mentioned (but learn something new every day as saying goes) though I do know you can acquire a cholestasis in pregnancy. Not sure if it is mentioned on British Liver Trust what you have acquried but I've popped the link on here if you want to have a look. There's also a UK charity based in Newcastle, England called Liver North (livernorth.org is the website) who cover various conditions so they might have some info.

    britishlivertrust.org.uk/pu...

  • Wow, thanks for sharing. Did you also have elevated AMA-M2?? that would be important to know as they say it's definitive for PBC.

    Stella

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