Medical Mystery - suspected PBC and AIH overlap

[Brooke1218]

I am really just looking for opinions if anyone has..

I am 23 years old and last summer went through a lot of testing. The end result is still very questionable and there has not really been a complete diagnosis. I went to the top doctors in NY for opinions, as well as one in Texas, Baylor Institute. My doctor now has concluded that he thinks I have a sort of overlap syndrome of PBC and autoimmune hepatitis.
The doctor is texas thinks pbc and other doctors dont want to give a difinitive diagnosis. I have NO symptoms at all, im tired sometimes, but i think its just a normal amount.
When I was 16, my liver enzymes were high during a normal routine blood test. I went to a gastro and he blamed it on past Epstein Bar. My enzymes gradually went down on their own, but took about a year. Everything was fine from then until last summer, when I was about 22. Another routine blood  test showed elevated  AST, ALT and ALP , in the hundreds. Blood tests were then done almost every week, they began elevating more. I went to a specialist and he did all autoimmune tests as well as Hep and everything else. I was negative for everything. Except I had a slight Anti Smooth Muscle elevation. Normal is 1:20.. over the next blood tests this ASMA fluctuated. It went from 1:20, 1:40 , 1:80, 1:160, 1:300 something and then back down to 1:20. At this point my ALT, AST and ALP were also slowly decreasing on there own, about 20 a week or so.
I had a liver ultrasound- normal.. a colonoscopy - normal... a MRCP- fine and i also had a LIVER BIOPSY- the biopsy showed damage in my bile ducts. The doctors said this is confusing because the BIOPSY indicated PBC, although I am AMA negative and also normal age range for PBC is much older, 50's i believe. and AMSA is an indicator for PBC.

They put me on URSO forte and I take 750 mg a day.. within about 3 weeks of taking URSO, all my enzymes went down to normal. Since then I have been taking the URSO for almost a year now and everything is still stable.. they want to keep me on this for a while, as long as im stable and take it from there.. but I would still like opinions as noone is really 100 percent sure of anything.
They say its I am a little bit of a medical mystery..  as I am so young and dont fit the norms that usually go with these diseases .I am really happy I responded well to the URSO for now.. but any ideas???

[Ravi2012]

Hi Brooke, I hoper you health issue resolved. I am having a situation very similar to you. I am a 30 ys old male from st louis. Recently I found that my ALT and GGT level are ~200. and I am week + for ASMA (SMA). My ANA and AMA came negative. IN addition to that Dr. found that my IgM is elevated too. Dr. suspecting for AIH, PBC, but asked to repeat these test in 2 weeks before giving any diagnosis. I was wondering if you found any well known Doc in these area? Please let me know if you found someone who resolved your problem.. Thanks and regards. Ravi

[mikesimon]

My friend had PSC and ulcerative colitis. I never heard anything about her having AIH and I think I would have because we talked about her disease at great length.

I would advise you to post your question at our expert liver transplant forum. There is a reputable physician there who answers questions about issues other than just liver transplantation.

I know this is a complex disorder and I believe that Dr. Schiano might be able to refer you to a specialist who'd know about this subject.

Here is the link to the liver transplant site:

http://www.medhelp.org/forums/Liver-Transplant/show/274

Recently it appears as though Dr. Schiano has been busy or away because he hasn't been answering questions as quickly as he formerly had been. But post your question and he'll answer it soon.

Good luck,
Mike

[Sunshy]

Hi Mike, I noticed you had written to Brooke that you had a friend with PSC. Did she also have auto immune hep as well? I have both AIH and PSC and was looking for info on how patients treat it and what doctors they use. I have had a difficult time finding drs who are knowledgeable in these 2 diseases when they are overlapped and would like to receive the best treatment that I can. Thanks for any info you may have.

[Sunshy]

Hi, I'm sorry you are going through this and hope you are feeling well at this time. I have PSC and Autoimmune Hepatitis. I am still not confident in my doctors and would love to find a specialist who specifically treats these issues, so I know that I am treating my diseases the best I can.  Good luck with everything and stay strong!

[Brooke1218]

Thank you soo much for the postings and response!!! I really really appreciate it. Most of the stuff read I did know, but some of what you posted about the overlap syndrome was knew to me and really helped! i know itching can be a sign and ive been looking out for it, ive experienced some, but honestly i think I was just psychologically connecting it to my liver, and I think it was just normal itching from dry skin or something!
Yes Im being monitored, blood tests every few months, to make sure that the Urso is still working and everything is stable! Im glad your friend is doing so well and that is very helpful to me too!o
I know I am so young for this diagnosis, and not all the pieces fit right into the puzzle so thats why I am still debating if it is PBC, since my ANA antibodies are negative, but Antismooth are sometimes positive. Its very strange!
Again I appreciate the posting, sorry for such a late response! thanks again!

[mikesimon]

You are young for a diagnosis of PBC but, as I understand it, patients are diagnosed between 30 and 60 years of age. The median may be in the 50's but this disease is diagnosed in the 30's frequently. It's probably good that you have been diagnosed early because better outcomes are associated with early diagnosis. Of course, you haven't been diagnoses with PBC so it is confusing. I found this material at the site indicated. You've likely seen it already but, just in case, I thought I would post a few  excerpts.

                                   PBC Update  
See:  http://autoimmunedisease.suite101.com/article.cfm/primarybiliarycirrhosis

"Although AMA can show up in low titers in other disorders including Graves' disease, titers of AMA of 1:40 or higher are considered indicative of PBC.
Nearly all patients with PBC will have a positive AMA test. Antinuclear antibodies (ANA) are seen in about 50 percent of patients with PBC, including patients who do not have a positive AMA test. The nuclear-rim and nuclear-dot ANA patterns are considered highly specific for PBC."

                                      Overlapping Liver Diseases
See: http://autoimmunedisease.suite101.com/article.cfm/overlapping_liver_diseases

Among the autoimmune diseases, there are some conditions that defy a definitive diagnosis. In recent years physicians have identified a number of patients with an atypical pattern of autoimmune liver disease, which they’ve now termed overlap syndrome. These patients have features of more than one of the known autoimmune liver disorders.
Symptoms

The most common type of overlap syndrome is one in which patients have symptoms of both autoimmune hepatitis and primary biliary cirrhosis (PBC). Overlap syndromes may also show symptoms of one of these disorders along with primary sclerosing cholangitis. Signs and symptoms of overlap syndrome include elevated liver enzymes, fatigue, jaundice, nausea, and itching. However, the clear immunological profile of these disorders (positive ANA and anti-smooth muscle antibodies in autoimmune hepatitis and positive anti-mitochondrial antibody titer in PBC) isn’t seen.

I don't know much about PBC. I know more about PSC because a friend of mine had that disease and underwent liver transplantation 9 years ago and is doing great - I spoke with her yesterday. I do know that autoimmune liver diseases are often associated with other autoimmune disorders. I think PBC is often associated with Thyroid issues. PSC is often accompanied by ulcerative colitis. I think that careful monitoring for any other immune disorders would be very prudent and I assume you are being closely monitored.
By the way, have you experienced itching?
I think you have a great attitude Brooke. You seem very courageous and that goes a long way when faced with something like this. I am happy that the Urso seems to be working so well.

I wish you the best pf luck.

Mike