No diagnosis yet but AMA+. Any advice?

[Donti]

You are a wonderful group of caring people. I am new here and have learned a lot and found some peace reading your forum. I need help finding proper medical care for myself but don't know where to turn. I am hoping someone can give me ideas on how to proceed. I am a 67 year-old female in the USA.

My primary care physician (PCP) referred me to a liver doctor (hepatologist) after I experienced unintended weight loss and had a history of having mildly elevated ALT and AST. The appointment was 4 months out. In the meantime I totally quit alcohol as it wasn't a big deal. The liver doc ordered many blood tests (Hep AB&C, Smooth Muscle Antibody, Ferritin, Lipase, Antinuclear antibody, Alpha-1-Antitrypsin, Celiac, GGT and Mitochondrial antibody). All normal except Anti Mitochondrial (AMA) positive with readings of 38 and 30 (normal is under 20). When asked, the doctor's nurse argued that there is no "M" typing to AMA results. So, unfortunately. I do not know the M type of my lab result. The doctor had liver functions measured after I reported very pale tan stools, a brief episode of yellow skin on my face/hands and itching. In reply, my doc relayed that my symptoms are NOT due to my liver as all blood tests are normal (except AMA). My ALP and GGT have always been good. My doctor did offer 300 mg Urso for itching. I'm confused, I thought Urso mad liver function labs normal and Question was for the itch. I have normal labs why the Urso, or am I wrong about why Urso is used?

Problem remains: I continue to have pale stools that cycle from mid brown to pale tan every 10-14 days. (Mine are lighter than the pictures on a Google image search). I have had 2 night-time bouts of intense itching that calmed with a shower, clean sheets and PJ's. I have occasional mild "specific location" itching, mostly at my ankles or hands, that respond to calamine lotion. Add dry eyes, dry skin and occasional joint pain. Otherwise I feel good. But there remains the issue that I am AMA+. All correspondence with my doc is through her nurse via web messaging. I have an in-person appointment scheduled for late April 2023. To my knowledge there will be no lab tests following my lipid panel last Dec 2022. I realize that I do not meet the criteria for a PBC diagnosis, but what kind of medical provider should follow my AMA+ status? With what tests? A specialist - gastro or liver - or follow with a PCP? Please note; it currently takes many 6-7 months to get an appointment with a qualified specialist in my city. For obvious reasons I do not wish to stay with my "liver" doctor (who is also listed as a gastro in her bio) and I'd like more direction from my PCP, but know I am dealing with a specialized area of medicine.

So I have been left to figure this out by myself with Google, and that's not necessarily a good thing! I am not asking for a diagnosis, just what would you do given your experience if you were me. ? Part of me that says "forget about it but mention at annual physicals with a PCP." My other side says "this could be serious and you have a chance to catch it early - do something!" But what am I supposed to do?

[ninjagirlwebb]

I think you should pursue the cause of your issues because they won't go away without treatment; otherwise, you wouldn't have gone to the doctor in the first place.

Do you have copies of all your tests and such? Should have copies of them so when and if you speak to another doctor, you don't have go start from scratch. I am not sure how you might access another specialist to get a 2nd opinion. Definitely get a 2nd opinion. You have to advocate for yourself because it seems like your doctors are not taking your issues seriously.

If you happen upon another hepatologist with good credentials, book an appointment with him/her and then call that office daily to see if they have any cancellations to move your appointment up. That would be my strategy. I have done that previously if I wanted an appointment sooner. I called every, single day, sometimes 2x a day. And I am able to get an earlier appointment.

Last time I was not able to get an appointment to see my hepatologist and the next appointment was like 3 months later. So I left a message with the office manager explaining that I need an appointment this month for a follow up and can I please be squeezed into the schedule. They gave me an appointment for the next week.

Other times if I don't feel like dealing with the staff, I just send my hepatologist a note on the patient portal and he will ask his staff to call me to schedule an appointment the next day he has office hours.

Basically, I use all my persistence and influence to get an appointment. And it usually works especially if I talk to the doctor. I use the same strategy with all my specialists and they never say no to me.

Don't let it go...find answers and be persistent. Good Luck!

Haley

[Donti in reply to ninjagirlwebb]

Yes, my hepatologist is definitely not taking me seriously! My current one has apparently decided it’s not my liver and I need to look somewhere else for answers. You’re saying to get a second opinion with an hepatologist. Will do! I’ve raised a special needs child and have had to fight for appropriate care for him my entire adult life. I’m feeling beat and it’s hard to get back up and fight for myself. Thanks for direction and the push to keep fighting!

[ninjagirlwebb in reply to Donti]

Yes, you can use the same mindset to advocate for yourself. You have to have peace of mind and resolution to move forward. That is motivation in itself.

Additionally, the AMA+ is really what should be delved into more. Antimitochondrial antibodies (AMA) are autoantibodies that are strongly associated with primary biliary cholangitis (PBC), formerly called primary biliary cirrhosis. This test detects and measures the amount (titer) of AMA in the blood.

AMA are autoantibodies that develop against antigens within the body. There are nine types of AMA antigens (M1 – M9) of which M2 and M9 are the most likely to cause illness (clinically significant). The presence of the M2 type of AMA has been particularly evident in PBC, while the other types may be found in other conditions. Some laboratories offer the AMA-M2 as a more specific test for PBC.

[ninjagirlwebb]

Urso is mainly used for pbc and gallstones. Not sure about its other uses.

[periwinkle88]

I'd definitely suggest you get a second opinion. Advocate for yourself or you may regret it down the line. Is it possible for you to travel out of your immediate area to see a hepatologist with an interest in PBC? I can't imagine that a good hepatologist would ignore your symptoms, and especially the positive AMA.

I was diagnosed after a liver biopsy, but the only indications for me to get the biopsy were an elevated AMA and a slightly elevated ALT. I didn't have itching or other symptoms, and my alkaline phos was normal (and still is 12 years later). When the biopsy came back negative for PBC, I took the images to a hepatologist who researches PBC and he was able to find something that the original pathologist had missed that he called "hallmark PBC". This (the PBC) was then confirmed by a second pathologist reading of the biopsy images. If I had just accepted the original wait and watch/not sure yet if it's PBC from the first gastro I saw, it might have been years of going undiagnosed.

If you know what you're dealing with, you can take action. Good luck!

[Donti in reply to periwinkle88]

Thanks so much for weighing in. I’ve never had a biopsy of anything. Are the biopsy images digital like a CT or MRI? The referral and scheduling process for the teaching hospital in Kansas City is slow and frustrating, but I’ll keep calling! Have you developed symptoms of PBC over the years?

[periwinkle88 in reply to Donti]

Yes, the biopsy images were digital (this was 2011). And, no, I haven't really developed symptoms. I get the occasional itching on the sole of my foot, but can go weeks between and it's very mild, maybe a few minutes at most. I do have other health issues so it may be that it's hard to ferret out what symptoms come from what, but according to labs and fibroscan, I am still very early stage.

[ninjagirlwebb]

Adding more to what perwinke88 wrote. Think my slightly elevated ALT was what had the PCP send me to the hepatologist for further evaluation. I didn't have any other indications that something was amiss other than the lab work. Hepatologist ran a bunch of labs and found high titers of AMA. So I had a biopsy done but the pathologist could not diagnose and results seem inconclusive. My hepatologist then had the biopsy slides sent to a world renown liver pathologist at Columbia Presbyterian for a 2nd opinion. He diagnosed the pbc and my hepatologist put me on urso immediately.

[Donti in reply to ninjagirlwebb]

You mention you had high titers of AMA. I know my titers are above the labs “normal” of less than 20. Mine are 38 and 30. Don’t know if they use the “5x upper limit of normal” criteria that would put mine at only mildly elevated. I’ve also read that the AMA titer itself doesn’t mean how much the disease has progressed. It would seem to me that just the presence of AMA antibodies is abnormal. Also, is it unusual that the lab didn’t include the M typing as part of my AMA results? It seems like everybody knows their M type but me.

[ninjagirlwebb in reply to Donti]

I don't know the M type. Maybe it is a further test to get those details. Doctor did these labs too (see below). M was high. Anti-smooth muscle antibody that was a strong positive too.

So he sent me for a biopsy to figure why these were abnormal. It was the pbc.

An immunoglobulins test usually measures three main types of immunoglobulin (Ig) antibodies that do different jobs to protect your health:

IgM antibodies are the first immunoglobulins your body makes after you're exposed to germs. They provide short-term protection while your body makes other antibodies. IgM antibodies are in your blood and lymph fluid (a watery fluid that carries the cells that fight infections and diseases to all parts of your body).

IgG antibodies are very important for fighting infections from bacteria and viruses. Most of the immunoglobulins in your blood are IgG. You also have some IgG antibodies in all your body fluids. Your body keeps a "blueprint" of all the IgG antibodies you have made. That way, if you're exposed to the same germs again, your immune system can quickly make more antibodies.

Immunoglobulin E (IgE) are antibodies produced by the immune system. If you have an allergy, your immune system overreacts to an allergen by producing antibodies called Immunoglobulin E (IgE). These antibodies travel to cells that release chemicals, causing an allergic reaction. This reaction usually causes symptoms in the nose, lungs, throat, or on the skin.

Anti-smooth muscle antibody is a blood test that detects the presence of antibodies against smooth muscle. The antibody is useful in making a diagnosis of autoimmune hepatitis.

[ninjagirlwebb in reply to Donti]

The blood work/labs numbers do not indicate condition progression. You would have to do either a biopsy (hep wont do this really since it is very invasive except for diagnosis) or a fibroscan and liver sonogram to assess.

[Giraffe44]

Hi

Perhaps you are a member already as you have posted on this forum but I would strongly recommend you contact the PBC foundation based in Edinburgh in the UK. They are a huge source of information, compassion and sensible guidance. They may be able to point you in the direction you need to get the answers you deserve . Best of luck

[Donti in reply to Giraffe44]

Thanks for your reply. I am a new member of the PBC foundation and am not fully familiar with all they have to offer. I will go to the website today!

[PBCCheryll Administrator Administrator PBC Foundation in reply to Donti]

Hi Donti, I'm Cheryll the Patient Services manager at the PBC Foundation. It's great that you have joined, such a warm welcome to you. The most important thing to know is that we are here for you. There are many services that you can access as a member of the foundation - the website is a great place to start. Our compendium has lots of helpful information about PBC. We also have regular Q and A sessions with leading clinicians, you are welcome to submit questions for these. Have a look at our youtube channel to see previous sessions and there's lots of great videos there too. Once you've had a chance to look at the website please do get in touch with the Foundation if you would like to chat anything through.

[Jlruggie]

I thought ama titer test and elevated enzymes is a pbc diagnosis, get on Ursodoil , don’t drink more than 4 oz alcohol every week, to extend the time before liver transplant and your life. Does anyone know of something different?

[Donti in reply to Jlruggie]

I had slightly elevated liver enzymes for a while and was referred for more testing after unintended weight loss. I immediately quit alcohol. Months later when the testing came around my enzymes were normal but AMA positive. All other screening tests were normal. The “specialist” has told me there is nothing wrong with my liver and dropped me. I’ve got a second opinion in 4 months to understand what kind of follow up schedule and tests I should have given my AMA status. Specialist #1 was a lousy referral, I’m going to change PCP too!