A little advice would be most welcome...

[InkyTrickle]

Hi everyone, I was wondering if anyone can give me some advice. My mother had PBC. I have NAFLD but am also Strongly Positive ANA, moderately positive Anti SMA , and Anti SP100 Multiple Nuclear Dot pattern. But I am AMA negative. I was recently seen by a dermatologist for severe itching, and she has recommended that my GP refer me to a liver specialist. Given these results, if it was you is it something you would push for? I had an ultrasound, that just showed fatty liver, GGT 161. I have sever fatigue and muscle pain, I was diagnosed with Fibromyalgia in 2015. I also have COPD. I fear that my GP will just ignore this request and not send me to the liver specialist.

[AyrshireK]

Yes, I would push for the referral to the liver specialist in light of you already identifed fatty liver if not also due to the posistive auto immune antibodies and other symptoms. If the dermatologist thinks your skin issue might be something liver related then you absolutely need this to be investigated.

I don't think that PBC is genetic/hereditory in anyway but certainly with you already being diagnosed with fibromyalgia there could be an auto immune link.

Thinking on the COPD issue too - have you ever been tested for Alpha-1 antitrypsin deficiency? which is a genetic condition that affects both the liver and the lungs.

I definitely thing you absolutely do need to see a specialist to examine what might be going on and if there is something liver related on top of your other conditions.

Katie

[InkyTrickle in reply to AyrshireK]

Hi Katie, Thank you so much for your speedy and informative reply. I lack confidence and have great difficulty speaking up for myself, so it is encouraging to hear that you feel that I am entitled to request this referral.

Regarding Alpha-1 antitrypsin deficiency, no I haven't been tested for that. Interestingly my mother had both lung and liver issues. As well as PBC she had Pulmonary Hypertension, and heart disease, to name a few of her long list of ailments! Thank you for your info on this, I will do some research and perhaps request this also.

Warmest regards to you and thank you so much.

InkyT

[Kakey]

Hi InkyTrickle. I would push for the referral. I have PBC, am AMA negative, and ASMA positive (don't know values), but because I'm AMA negative I had an awful time getting diagnosed. The fact your mum had PBC does put you at a little more risk. It's not genetic as such, but there is a familial link. Your ASMA, coupled with severe itching should be enough to persuade your GP that you need to see a consultant.

Good luck xx

[InkyTrickle in reply to Kakey]

Hi Kakey,

Thanks so much for your reply and thanks for sharing some of your story. I can imagine you had a really rough time getting diagnosed. I was initially found to have the Anti-SP100 in 2015 and then told because I didn't have AMA I didn't have PBC but could get it in future so watch and wait basically. Then nobody followed it up!

If you don't mind me asking, were you diagnosed PBC after a liver biopsy?

Thank you so much for taking the time to reply, it is most appreciated.

InkyT

[Kakey in reply to InkyTrickle]

Yes, after biopsy. I was told I didn't have it too 🙄. You're very welcome, glad to be able to help.

[Kristian]

Hi Inky,

Yep, absolutely. I would imagine if your hospital consultant is suggesting a referral then your GP would act on that anyway. But, if they don't then do push it. In my experience they tend to be happy to err on the side of caution and do it anyway just to be on the safe side.

[InkyTrickle]

Hi Kristian,

Thank you so much for your reply. I am going to get my brave hat on push for it at my next discussion with her in a couple of weeks. Thanks so much for the motivation!

👍

All the best,

InkyT

[MW923]

How are your liver enzymes?