Is anyone else a bit of an anomaly?

[Smarties18]

I was diagnosed with PBC with possible AIH overlap around 12 years ago. After the first few years it appeared that it was just PBC, but my current gastroenterologist has always been a bit unsure about whether to put me on steroids. He refers to me as a difficult case…

I am AMA-negative but was diagnosed on the basis of my LFTs and a biopsy. Due to my doctors uncertainty about whether I have overlap syndrome I had another biopsy in 2019 which was still mostly suggestive of PBC.

In general I appear to be an urso-responder. On average my ALP is less than 1.67 ULN. My ALT is usually a bit raised. However I have had a limited number flare-ups of ALP even whilst on urso. Most recently, last October when it was 280. Prior to that it was in 2018 when I gave birth to my son, had come off urso for the pregnancy and not gone back on it straight away, and had what my doctor believes was a drug-induced liver injury from some antibiotics. Then it was around 870, but it came down again once I resumed taking the urso. I had a fibroscan in 2021 which came back at F0/F1.

Generally I haven’t really experienced any symptoms apart from tiredness, but I don’t know to what extent that is from the PBC. I’ve always been someone who loves to nap during the day, and don’t sleep terribly well at night which contributes. I’ve had a couple of brief episodes of mild itching. The only other thing of significance is a strange, undiagnosed skin issue. When I’m unwell with a cold, I tend to come out in blisters and mouth ulcers that are somewhat herpetic in appearance, though I have had a blood test and numerous swabs for herpes and all have come back negative. The very worst episode of this coincided with my big LFT spike in 2018. However I am now on doxycycline and this has helped to minimise these skin sores.

I am under a rheumatologist as well because of the combination of liver and skin issues, and have also seen a dermatologist about the skin issue, but they can’t really tell me anything until I have another lesion that they can biopsy, which could take months to happen.

Anyway, my gastroenterologist is minded to try to do another biopsy again if/when I have another LFT spike, and/or possibly refer me for a second opinion. His main question is whether to put me on steroids, which he doesn’t want to do unless he really feels it necessary.

I don’t really know what I’m asking other than whether anyone else doesn’t appear to fit the normal profile of a PBCer? I guess it’s mildly unsettling not to know for sure what’s going on. I also find it hard not to worry about not fitting neatly into one particular category, and it all seems a bit abstract when my fibroscan was normal and I don’t really have any obvious symptoms. I’m grateful to have a thorough doctor of course, but I guess that his determination to make sure he’s doing the right thing has the adverse effect of making me feel there is something to worry about, because he obviously is concerned that he’s missing something.

[butterflyEi]

Later today, Professor Neuburger will be the guest speaker on the PBC Foundation's Q&A session broadcast at 1400 hours UK time. If you could email your question to the PBC Foundation at [e-mail] this morning they may be able to get your question raised by this well respected specialist in the field of PBC. Do tell them which country/area you are in as they may be able to refer you to a specialist hepatologist nearer to you.

For myself as your Gastroenterologist is concerned ask him/her to refer you to a Hepatologist locally to you who might have greater in depth knowledge of PBC.

Also you say "I don’t really know what I’m asking other than whether anyone else doesn’t appear to fit the normal profile of a PBCer" - over the 10 plus years of sharing on social media I would say that so many of us present with so many different and yet similar symptoms that the only common denominator are the blood tests that confirm the presence of PBC.

[Smarties18 in reply to butterflyEi]

Thank you, I have done as you suggest

[Casslucy]

Hi Smarties18 I'm just newly diagnosed with pbc so I'm not going to be very helpful to you but when my blood tests were done all my lfts were mildly raised and I didn't have ama but smooth muscle antibody and igg raised which pointed 2wards aih but I got a biopsy and he said it wasn't that but was pbc due to mild inflammation at the bile ducts no scarring thank god so I'm hoping that mines right as well!

[pbcgirl]

I’m very curious about the details of your skin issues. I too get mouth lesions, it started about 3 months ago. I really can’t answer any of your questions but have always felt we all have different cases as we are all individual.

[Smarties18 in reply to pbcgirl]

I get spots generally in particular areas - on my face, the backs of my legs, the sides of my feet and sometimes my back. They start off looking like usual pimples but they act scab over quite quickly. They’re not itchy or sore unless knocked. The mouth sores are like ulcers.

When I had my worst outbreak I had some rather strange ones. I’ll upload a picture.

[Smarties18]

Clockwise from top left is my forehead, my cheek, my chin, and the last two are on my hands. This was by far the most extreme outbreak I’ve had and fortunately I’ve had nothing like it since.

Photos of skin lesions

[pbcgirl in reply to Smarties18]

I have had a couple of sores on my belly similar to that. Are the mouth sores way in the back of your tongue on the sides?

[Smarties18 in reply to pbcgirl]

They are usually on the sides of my tongue or on the inside of my cheeks or lip.

[YuckyDucts]

I know the feeling! I wonder if it's possible you could have the autoimmune disease called sarcoidosis? It can cause skin bumps/sores. Most doctors aren't familiar with it. Sarcoidosis causes granulomas in various body organs or areas, including often the skin. Do you know if you had granulomas in your liver shown by the biopsies? I had multiple granulomas in mine and feel tiny lumps under my skin, which for all I know may be granulomas, so I've been thinking I might have sarcoidosis. I had an Angiotensin Converting Enzyme (ACE) lab test done and my level was double the UL of Norm. It's high in those with sarcoidosis, but I think maybe it can be high in people with PBC as well. So it's not conclusive. I was diagnosed with both AIH & PBC, but my labs have never totally indicated it. I'm AMA & ANA negative. Bilirubin has always been normal and a few other labs just don't add up for me. Yet I have grade 2-3 chronic hepatitis & stage 2 fibrosis. I was negative for Hep A, B & C. Going to be seeing a hepatologist soon. Hopefully she decides I don't have both PBC & AIH. Will be interesting if I don't have either! Best wishes to you and I hope you get it all figured out.

[Smarties18 in reply to YuckyDucts]

Thank you for the reply! When I first met the rheumatologist she suggested sarcoidosis, but she then did a series of blood tests and whatever would have been a marker for that wasn’t raised.I’m not sure about granulomas - there was one thing that my gastroenterologist said in a letter had shown on my biopsy, but when I went back and checked, the report had said there was no sign of it, so I had to correct him. I think it may have been granulomas.

After I last spoke to my gastro and since I last posted, he has called me back to say he’d had another thought, that whilst it’s unlikely I have it, Primary Sclerosing Cholangitis has never been actively ruled out, so he’s referring me for an MRCP. Hoping it’s not that, because it doesn’t sound like that one is as well understood as PBC, nor is there evidence that urso slows down the progression. Still, ‘better the devil you know’ I suppose.

Meanwhile I had some more bloods done recently that are almost normal (with the exception of gamma GT which is always raised).

Anyway let’s hope we both get diagnosed soon!

[YuckyDucts in reply to Smarties18]

All so complex, isn't it! Your ACE level probably wasn't high then since sarcoidosis was ruled out. I hope all goes well for you too!

[Gmama2]

This is a little bit of a red herring, but what is your blood type? Mine is B, and I recently read people with B or O blood type should fast prior to ALP testing. I have been on Urso for just a month, my ALP (which has been normal on and off and never higher than 1.7 ULN) was up slightly (from recent 1.46 ULN to 1.57 ULN) but AST went from 1.05 to .57 and ALT which has never been normal went from 1.96 to 1.06.

The night before the test we had pizza, and I ate chili before the test. I usually eat much better than that, and the doctor said it wasn't necessary to fast. I am going to go pay for a test myself in another month.

Here is a link to one study: pubmed.ncbi.nlm.nih.gov/238...

[Smarties18 in reply to Gmama2]

I’m O. How interesting! Thanks for the tip!

[Gmama2]

Let me know if that changes anything. I will let you know as well.