After a long search I think I have found my answer...pbc

[sleepingbeautycan]

I found this list of symptoms and I check almost all the boxes. And I have checked almost all the boxes for about 20 years. See at the bottom. I was pretty bad off 3 years ago. My joints were so sore and my feet were so swollen I couldn't get up the stairs without a railing. I had a wicked pain between my shoulder blades that went away when I fasted. So I went on a meat only diet. No swollen feet, no sore joints, and the pain is gone.

All my adult life I was pretty sure I had an autoimmune problem but my ANA test was negative. I just recently went to a naturopath and she agreed to run some tests for me. I had a positive ENA. My GP would have never run the ENA because they don't recommend it if the ANA is negative. I was positive for ENA but negative for the 6 most common tests. So I looked up autoimmune diseases that had something to do with the liver.

What tests do I ask my doctor to confirm?

Later signs and symptoms may include:

✓ Pain in the upper right abdomen

✓ Swelling of the spleen

✓ Bone, muscle or joint (musculoskeletal) pain

✓ Swollen feet and ankles (edema)

? Buildup of fluid in the abdomen due to liver failure (ascites) (I think this is one of my symptoms as well but I thought it was really spongy fat)

✓ Fatty deposits (xanthomas) on the skin around the eyes, eyelids or in the creases of the palms, soles, elbows or knees

x Yellowing of the skin and eyes (jaundice)

x Darkening of the skin that's not related to sun exposure (hyperpigmentation)

✓ Weak and brittle bones (osteoporosis), which can lead to fractures (I keep breaking fingers and toes so maybe)

✓ High cholesterol

✓ Diarrhea, which may include greasy stools (steatorrhea)

✓ Underactive thyroid (hypothyroidism)

x Weight loss

[Kakey]

Go to the GP and list your ailments.

[Michiganpbc]

Ask for referral to liver doctor and ask to have AMA blood test this is usually positive in PBC a liver doctor will order all the right test ie, biopsy scans blood work, to see if you have PBC good luck let me know what they say.

[Buddy2017]

Just ask for a full blood test...I've got no symptoms and have PBC

[sleepingbeautycan in reply to Buddy2017]

Is this weird? I want so badly to have an answer (any answer) that I am afraid it will be ruled out and I will be back to square 1

[hells456]

I had PBC for many years without symptoms too. When I did get symptoms it was mostly bone shattering tiredness, weight loss and itching. I was diagnosed within a week on blood tests, though I've had a lot of other tests since. Have your liver enzymes been checked?

[sleepingbeautycan in reply to hells456]

I have Chronic Fatigue Syndrome on my personal pile of syndromes that don't have answers or causes. I find my fatigue goes in waves. Sometimes I have it to a debilitating degree and sometimes it is not there. I haven't figured out the what causes it to come or go.

I would welcome a bunch of the weight loss symptom.

Liver enzymes have always been normal. So I may not have PBC. Although I check so many of the symptoms that I am hopeful I have a answer ... finally.

[Kakey]

Why do you think your symptoms are liver related? I don't get it. Symptoms for so long without a rise in liver results seems strange. You have those annoyingly non-specific symptoms that could be caused by so many things. Are you under the care of a specialist?

[sleepingbeautycan in reply to Kakey]

Right?? I don't know. I have always thought that I had an autoimmune disorder. My brother had ankylosing spondylitis, psoriatic arthritis, and another one. I suspected that I had celiac's in my 30s when I went off of gluten (and all my symptoms went away) but in order to test positive I had to go back on it. And I didn't care if I had the diagnosis as long as I didn't eat gluten.

The way I got here is that I have always had a negative ANA but just last week I had a naturopath who did an ENA test on me. Which was positive. Now the list of things that can trigger an ENA (and not ANA or RF or CRP) is unknowable but statistically it is likely to be one of the common ones. But it wasn't any of the top 6 because they did a test and some of those antibodies were elevated but negative (i.e. not enough for a diagnosis). And I didn't match any of the symptoms of those anyway. So I went through every disorder that could cause the ENA to trigger and found this one. I have a lot of the symptoms. Some of the symptoms are kind of unique, like the splenomegaly. Every abdomimal ultrasound I've ever had has had an enlarged spleen. No infection markers just an enlarged spleen. As well I have yellow marks around my eyes (xanthelasma) which indicates liver problems. So I started with autoimmune disorders to do with the liver.

I was also looking for ones that involved the kidneys. I've had a number of blood tests come back where I was flagged as possible CKD (chronic kidney disease) but I didn't find an autoimmune disorder where that was a thing. And the tests went back to normal.

It could be a systemic autoimmune disorder that is just showing up in the liver. dunno. Just trying to follow the data.

So here I am. Just hoping for an answer. I'm an engineer so I have been doing things that optimized my health for years. A meat only diet really helped (allowed me to continue walking). To help with the pain in my abdomen I had a regimine of fasting 3 consecutive days every 2 weeks. Beat having to take opiods.

[hells456 in reply to sleepingbeautycan]

This must be a very frustrating and worrying time for you. I have my fingers crossed that you get answers soon.

The yellow lumps are caused by high cholesterol and could equally be caused by something other than the liver. A high meat diet often causes this too. Are you taking something for the cholesterol?

Are you seeing a proper doctor too? A good GP will look at your symptoms and test results and see where to go from here. PBC is usually quite easy to diagnose, you need two out of these three things: raised ALP, positive AMA, positive findings on biopsy. If blood tests show your ALP and AMA are fine, it's extremely unlikely you have PBC, and certainly not at a level you would get symptoms. Have you been checked for fatty liver? That's far more common and more often gives the symptoms you describe.

[sleepingbeautycan in reply to hells456]

Fatty liver increases the size of the spleen? huh. Didn't know that. And the ENA test, does a fatty liver cause that too? I would love for it to be a fatty liver. I guess we will see.

Do I have a "proper" doctor? Yes. And if it was left up to her I would not have had the health that I do now.

[hells456 in reply to sleepingbeautycan]

You sound annoyed I'm sorry to have upset you, I was genuinely trying to help. PBC left untreated is very serious and I just wanted to check you were getting the right care. Mine had already progressed to cirrhosis when found. When I said fatty liver symptoms I was referring to your diarrhoea, abdomen, cholesterol and pain. It can cause an enlarged spleen, but I have not heard of the other test. I will step out of this discussion now, but I wish you all the best.

[sleepingbeautycan in reply to hells456]

Yes, it is a fear. I'm sorry. I have been so sick for so long and I am so desperate for answers. I'm afraid that this will be another door shut. And because of the health system in Canada, chronic diseases are basically ignored, so if you don't advocate for yourself you get ignored. Like if you get dx with cancer or heart disease or get hit by a car, you get top notch care. Have a chronic disease? Sorry long waits to see doctors for you if you even fit our criteria for who gets to see specialty docs.

[Kakey in reply to sleepingbeautycan]

I hope you don't have PBC, it's very distressing to get diagnosed with a progressive chronic condition. I'm not sure about your data following, but of course that doesn't matter, you don't need to convince me. But if you've had PBC for 20 years you really need it diagnosed as a matter of urgency. Medication is vital.

[sleepingbeautycan in reply to Kakey]

I hear you. But I just want to know what I am dealing with.

[Kakey in reply to sleepingbeautycan]

Absolutely. I know that your position is very stressful.

[Anothermember11]

Hi, I’m in same predicament.Over 5 years of pain, swollen joints, fatigue, skin, bald patches, skin rash etc and several visits to rheumy and neurology Ana negative on three occasions.

It took my new gp to see me holistically and sent off for some specialised bloods.

They have returned with smooth muscle antibody and lupus anticoagulant positive.

I’m doing repeat bloods start of July as bloods need be 12 weeks apart but been sent back to rheumy. I feel your pain sister 🤪

[sleepingbeautycan in reply to Anothermember11]

It would be nicer if we all had perfect presentation so that the docs could diagnose us immediately. I would be most grateful for that.