Please help!!! Possible misdiagnosis and mystery illness😢😢😢

[PBCNewbie32]

Hello all, I am reaching out because I am confused about my diagnosis or lack thereof. I went in to see my general practitioner in March because I started to have unrelenting bouts of joint aches and pains, severe fatigue, and brain fog. It got to be so much so that I left my job in June, because I could barely get in and out of the car without pain, or up and down the stairs at work and home without pain as well. I began to question whether or not I had Lupus, because it runs rampant in my family and all who have it usually started to notice symptoms around their early to mid thirties, which is my current age group. I then also remembered being told by my practioner from the VA years earlier that I had Rheumatoid Arthritis, and that I would need treatment. So here I am years later not really sure what's going on with me, I almost begin to freak out so my doc says no worries let's just go ahead and run the labs. I'm like okay great, pretty soon I will have some answers. Only that is not at all the case. I got a call in mid-April telling me to come in that doc needs to see me. First the ANA results are read to me, ANA positive 1:320 SPECKLED PATTERN in all caps as well as 1:320 CTYTOPLASMIC RETICULAR PATTERN. Then AMA is read off and the results are 1:80 and reads serologic evidence of Primary Biliary Cirrhosis. Doc says I don't have much experience with this, let me send you to a specialist. This Dr. happens to be a GI specialist, but didn't really offer much I information, just I want to do a liver biopsy to confirm this diagnosis and oh, don't worry it will just feel like a punch to the kidney. I really wanted to so a Hepatologist, so I asked that I be sent elsewhere only to see a Nurse Practioner to say I don't think you have this because from the labs you had performed I don't see raised Alkaline Phosphate or raised bilirubin levels, and that an ultrasound that was on file from when I was pregnant 2 years prior didn't show anything but liver enlargement....?!?! This diagnosis was not even in question during that time might I add, but she did not want to listen. I ended up pleading with her to run her own set of diagnostic tests on me and to tell me what she thought, because I was tired of worrying and I needed answers. I explained that I have 6 children, I was now off of work, and that whatever was going on with me was affecting my normal activities of daily living. She ordered some blood work. I guess they test ANA 1:160 Homogenous pattern and Cytoplasmic fiber patterns....it says my value is 1:640 and that when they did an ANA Quantitative Interpretation it showed a Nuclear Dot Pattern. They also tested me for Autoimmune hepatitis, which I tested negative for, but still stated that she stood by her original decision and does not think I have PBC. What do all of these labs mean? If I don't have it, will I in the future? Also, why is a liver biopsy the only other diagnostic test they are willing to do for me? What are options? Any suggestions? I am lost and oh so confused. 😕 😕 😕

[OdinsMom]

There are basic criteria for diagnosis of PBC. You need two of three things basically to get a diagnosis. Elevated 1. Alk Phos, ALT, AST; 2. Positive AMA M2 and if you don't have both of those then a biopsy to be able to "see" it. AMA M2 alone just means you may get it someday but to be active you usually have the high numbers of liver enzymes.

Was the hepatologist PA you saw familiar with PBC? Either ask to see the hep themselves or go for a second opinion and help. As you were told you have RA and lupus runs in your family I'd suggest you go see a rheumatologist who is more likely to run tests to rule those in or out.

Elevated ANA speckled pattern is not a precise indicator of one disease.

[PBCNewbie32 in reply to OdinsMom]

Thank you so much!!! Finally, some clarity!!! Thank you so much for explaining things to me. God bless you!!

[Michi1]

There's a pattern they look for in your ALP, ALT and AST. Elevated AMA is diagnostic IF you have the elevated liver enzymes but it seems you don't. Bilirubin is often not elevated in PBC until there is serious liver damage. One would think if that were the case you'd have other symptoms as well. The pain you describe is not consistent with PBC. It sounds like you should be seeing a good rheumatologist with knowledge about autoimmune diseases. Your RA and family history of lupus definitely support that you could have one.

[PBCNewbie32 in reply to Michi1]

Thank you so much for the insight!! I appreciate it. 😊😊

[Jlruggie]

Pbc newbie,

Anti mitochondrial antibody, high alt and ast followed by liver biopsy diagnosed my pbc 20 years ago. I’ve been taking ursodoil. 5 years ago my Hepatologist prescribed fenofibrate for high enzymes. I had flu reaction and then itchy forearms and shins started. I stopped fenofibrate but itchy forearms and shins persist. It went symptom free or 20 years, now it’s just itchy forearms. Oh yes and my dexiscan shows osteopenia in my neck. Fun huh? Find a PBC Hepatologist specialist with more than 50 pbc patients. That will help. Don’t talk to people who don’t understand or care about it. We do. Welcome.

I avoid meat, additives, salt and alcohol. Ayurvedic doctor said to avoid fats but I just can’t. I eat salmon. Take a yoga class everyday, see an acupuncturist an chiropractor monthly., take a Chinese year powder for pancreas and spleen lesions.

Still trying to get enzymes down so biliary system doesn’t deteriorate any further. Any suggestions?

Feel free to ask questions, I’m an old hand at this! 😀

Jlruggie

[Jlruggie in reply to Jlruggie]

Pbc newbie,

Chinese Yam powder, not year powder.

Jlruggie

[PBCNewbie32 in reply to Jlruggie]

Thank you sooo much!!! 🙏🙏🙏🙏

[Jlruggie in reply to PBCNewbie32]

How is it going, have you made progress in your diagnosis?