Finally diagnosed and some clarity

Following a CT scan and some more blood tests, I went to see a Gastroenterologist, He told me I have NAFLD and Cirhhosis with some Ascites and peripheral pitting Oedema. changed me from Furosemide to a large dose of Spironolactone (200mg) to reduce the ascites and oedema. got to have an endoscopy of the stomach and some more blood tests.

Does anyone know of a genetic component of NAFLD? The specialist seemed interested when I mentioned that my younger sister also has it (something I only found out once I thought I had it) and my father, he died two years ago, had it listed as primary cause of death. None of us have been drinkers, I haven't touched alchohol for many years, neither has my little sister.

I am hoping the Spironolactone will make breathing and eating easier but I found the Furosemide had a much more immediate effect on the peripheral oedema whereas the Spironolactone doesnt seem to have any effect. it has only been a few days, does spironolactone take a while to take effect?

I also want to thank everyone for their positive support when I first posted. My family has a tradition of answering all queries about health with "I'm fine" so I didn't want to worry them until i knew more. This site has helped immensely with info and just knowing others feel the same.

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  • I have heard from my doctor and from someone at the BLT that there is likely some genetic component. I have NASH as does my grandma. Neither of us are male, obese, over 60, drinkers or heavy users of pain relief, so my doctor has decided it must be caused by some genetic factor. I have also got a genetic disease of my connective tissue so there's a query around whether that has any relation, and I'm in the 100,000 Genome trial so that may help to identify the genetic marker if there is one.

    I hope you're feeling as well as possible and I'm glad you got some clarity. Hopefully someone else will have responses to your other questions about treatment.

  • Thanks for your reply, it would be interesting to hear what the trial comes up with. How long is the trial?

    Now that I am over the initial shock that I actually have something wrong with me, I can concentrate more on what to do next. I am usually quite a pragmatic person so I will look to mitigate, lessen or at least stop further damage. I know it is a bit King Canute-ish but we all deal with things in our own way.

    I hope you and your Grandma are doing alright.

  • The trial is taking longer than expected - they're mapping my genome and those of others with rare diseases or cancers which are known to have a genetic root. It was due to report a few months ago but I got a letter explaining the delay and no definitive new date. I will let you know if anything comes out of it, liver-wise.

    Thanks for sharing your story and best wishes 😊

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