How do I get a diagnosis of PBC?

[Elektrik80]

Hi there

5 months ago i started having pale stools after i did a 9mile fell race. I have always been relatively healthy, have touched alcohol, haven’t smoked etc. They were generally on/off and not constant.

At first they thought it was possible I had Pancreatic Cancer so I paid privately for a CT scan and an abnormality came back on the pancreas but it wasn't cancer. They also picked up a kidney cyst but said my liver was fine.

I have since had an mri & mrcp which again has shown the abnormality (very small fatty focal sparring) but also flagged up a gallstone. All the biliary ducts are fine apparently, no dilations, so blockages but a gallbladder with a gallstone and sludge in it.

I recently had a blood test and all LFT’s came back fine apart from my bilirubin which is seems to fluctuate between 24-31.

My HPB consultant has asked for diabetes test and Gilberts Syndrome test.

In my last meeting I asked him again if my liver looked okay on the scans and he said yes. Surely a CT, MRI & MRCP scan would show fatty liver, cirrhosis, enlarged liver or at least show indications of and i presume they would have flagged that in the results.

So apart from waiting for the Gilberts Syndrome test and the Gallstones ( he wants to take it out if things aren't better in 6 weeks) the only other conclusion I can come to is PBC.

So how do i get that looked at? Is it an AMA blood test and maybe a liver biopsy?

5 months ago i was healthy, running, had a reasonable amount of energy (felt fatigued but i have been going through a break up and also my mum had cancer so it was pretty stressful) and overall felt pretty great but this has thrown me completely.

Any advice or ideas would help, thanks.

Mx

[Hidden]

Hi Elektrik, briefly the first best help in having PBC diagnosed from a patient perspective is knowing that it exists: many of us took about 10 years to diagnosis🙂Secondly, it helps to know that, absent of AMA, there is now known to be 2 other antibodies which, if present, can lead to diagnosis. If you haven’t already, you can access the PBC Foundation through HU, or directly via their website for much more information regarding diagnosis and the guidelines/protocols that have been established to help you. Best wishes

[Elektrik80 in reply to Hidden]

Hi Filistines

Thanks for the heads up regarding tests. Will speak to my doctor on Monday about getting some of those tests sorted and booked in.

Im praying to god it isn't PBC but I do feel alot of the associated symptoms are familiar but DR google can send you on lots of wild paths it seems.

Thanks for all the help so far

Mx

[Hidden in reply to Elektrik80]

I was told ten or twelve years ago that autoimmune disease is difficult to diagnose - this was from a specialist in oral medicine who diagnosed sjogren’s on biopsy in me and in the process, referred me to hepatology to consider PBC which I’d never heard of. At diagnosis The consultant advised joining PBC Foundation. It’s very good advice. This site is also very helpful and supportive, friendly, and there’s always someone who’s views or ways will resonate with you, inform you, make you laugh, help you in many ways.

[Katrina999666 in reply to Hidden]

HI HIdden what are the other 2 antibodies thank you

[Hidden]

Hiya,

From what I understand, the majority of people are diagnosed with a positive AMA test and elevated lfts although it’s possible to have a negative AMA test and still have pbc.

Biopsy’s aren’t routinely done in the UK anymore, they may offer a fibroscan instead which measures the stiffness of the liver and is a better indicator of liver damage.

I had a blood tests when I was pregnant as I was itching madly and had upper right abdominal pain, my bloods showed extremely raised lfts, so this was investigated further, they ruled out more common conditions first to do this I had abdominal ultrasound which showed absolutely nothing, and then o at rarer conditions, they were incredibly thorough. After a couple of weeks I was told I had PBC, AMA test had come back positive, mystery over! After a few months I had a fibroscan and the result wasn’t great and showed some fibrosis in the liver.

Hopefully you get some answers soon, it’s not nice not knowing what the problem is.

Interestingly my brother has Gilbert Syndrome, and it’s only his bilirubin that’s ever raised, whereas all of my liver enzymes are raised apart from bilirubin.

[Elektrik80 in reply to Hidden]

Thanks for that Rose

Really appreciate the reply.

I have every finger crossed it isn't PBC and is just Gallbladder/stone & Gilberts related tbh.

Like i said all my LFT’s are just fine and within normal range but its just my bilirubin that is out of whack.

In terms of the imaging tests they would normally show up issues not related to PBC though would they not. So fatty liver or cirrhosis would show up surely. Totally understand that PBC doesn't.

I’m at the docs tomorrow so will request an AMA blood test as its another 6-8 weeks until i see the consultant and by then it will have been going on for 7 months and time is of the essence with his it seems.

I have also booked a private Ultrasound test next Thursday to get a better picture of my liver as its the one imaging test I haven't had done.

Thanks so much for the help

[Hidden]

Hi Eletrik80,

Sorry to hear you are not good just now. I think you need to go back to go and discuss your concerns.

I am not medical trained so can only talk in relation to my experiance.

I have pbc/aih and my billirubin has been high on many occasions liver the years however when it is all my other liver fuction bloods are also high. Never have i had just high billirubin. As i say though i am no expert and think you need to discuss with doctor.

Angela

[Elektrik80 in reply to Hidden]

Thanks Angel

Of course - thanks for that. I will discuss with my doctor. Its very frustrating and slow but I must be patient. Thanks for much for replying, i appreciate it alot.

Mx

[Hidden]

If sp100 and gp210 are present but AMA absent, you don’t need liver biopsy to diagnose PBC. 🙂

[Elektrik80 in reply to Hidden]

Hi Filistines

What are the tests called that gives you those results? Just so I know what to ask for xx

[Hidden in reply to Elektrik80]

I can only guess that the test would be for those 2 antibodies but you don’t need guesses. Why not give Robert Thain a call. He’s the person at PBC Foundation who can direct you. It’s also his mother, Collette, who founded the organisation when she was diagnosed with PBC and in the dark with no help or info to hand.

I tried to put their helpline number here but the system didn’t allow it!🙃

[PBCRobert Partner in reply to Hidden]

01315566811.

Thank you.

[ninjagirlwebb]

The diagnosis of PBC is based on the presence of at least 2 of 3 key criteria including a persistently elevated serum alkaline phosphatase, the presence of serum AMA, and liver histology consistent with PBC. Anti-nuclear antibodies specific to PBC are useful in cases in which AMA are not detected and may indicate a more aggressive course. Ursodeoxycholic acid is the only proven therapy for PBC and in most cases can delay or prevent disease progression. However, a subgroup of patients does not adequately respond to ursodeoxycholic acid and for whom new therapies are needed.

[ninjagirlwebb]

Diagnosis

For PBC diagnosis, two of these three criteria need to be met: 1) cholestatic pattern of liver enzyme elevation (mainly alkaline phosphatase); 2) presence of antimitochondrial antibody (AMA) or other PBC-specific autoantibodies, including sp100 or gp210, and; 3) histologic findings consistent with PBC.

AMA-negative PBC can be diagnosed without a liver biopsy if other criteria are met, including cholestatic liver tests and PBC-specific autoantibodies such as sp100 or gp210.

Perform liver biopsy for suspected concomitant autoimmune hepatitis (AIH) when alanine aminotransferase activity is more than five times the upper limit of normal.

[Elektrik80 in reply to ninjagirlwebb]

Thanks for all this.

Really helps me for tomorrow at the gp. I literally have a book of questions to go through with her.

If my LFT’s were all out id kinda get it all but for them to all be normal apart from my bilirubin is odd.

Mx

[ninjagirlwebb in reply to Elektrik80]

Most likely not pbc...maybe it is the gallstones impacting the bibilrubin.

[ninjagirlwebb]

The above were cut & pasted from established medical journals/sites. Show that to your doctor.

[Dinasmom]

If LFTS are normal and MRI and CT of liver are essentially normal, it's kind of doubtful at this point that anyone would diagnose you with PBC. Good luck with finding out what's ailing you. So happy it's not pancreatic cancer!

[danaLL]

At one point i had an endocrinologist recommend an ERCP. Basically it can detect gall stones that could be causing blockage that otherwise would not be detectable in all other imaging tests. I hope this helps and good luck with your prognosis.

[Elektrik80]

After came back from docs latest blood test was all LFT’s fine and my bilirubin has come back down to 20. The checked conjugated and unconjugated and she says everything at the moment bilirubin wise points to Gilberts syndrome.

She has asked for more tests into Coeliac for the bowel movements.

The pain she says is most likely my gallbladder as it fits the profile.

Will keep everyone updated as I go along.

Thanks for everyones help so far.

[Elektrik80]

Went to see my GP again today who did nothing to alleviate my fears at all.

She basically reiterate the Gilberts causes no issues whatsoever and then i asked about abdominal pain.

She poked my left hand side and it hurt where my liver and gallbladder were, she then said she has run out of ideas and that the specialists need to sort it.

They want to take my gallbladder out but she said it really doesn't present in the way Gallbladder issues do but she also said that if they wanted to take it out then they must have a good reason.

She said i should take solace in the fact that my LFT’s are okay and that the CT scan radiologist said my liver was normal but it doesn't give me much hope tbh. I have read plenty of peoples experience when all tests and imaging came back fine but there was still a problem.

She is struggling to work out where my malabsorption issues are coming from but on the back of that she has ordered B12, Folate, Vit D, etc, full blood count and also coagulation to see if the bruising i have is more sinister than it seems.

So now i have Xray on my hip and knees coming back due to pain, all the bloods and a Coeliac test coming back this week.

I hope it shed slight on whats going on as im just disparing now.

Last week when i was told I had Gilberts i felt okay but now after coming back out i feel its either much worse or its all in my head.

😢

[ninjagirlwebb in reply to Elektrik80]

I think a GI can sort out better your symptoms than a GP since GIs deal with all the issues you are speaking about. If you find a good one, they can calm you since they are expert at these issues.

Good luck.