Unusual symptoms help -update

[F9927]

Hi,

I am reaching out to see if anyone can give suggestions on some odd symptoms I have had over the last two years. I have been doing the rounds with hospitals, as it is something rare but they have found things but not diagnosis.

I have had lupus for many years, and whilst I have flares I have been able to manage. In the last year I have had really weird symptoms:

Bleeding under the skin,

Loss of portion of eye sight right eye

Rash and bruising

Blood issues:

*Myeloperoxidase Abs (high)

*Positive P-ANCA

*MPV, PDW, MCHC Absolute Reticulocyte

Count high

* Haptoglobin low

* loss of eye sight right eye

*Scleroderma RNAP III (11)

antibodies positive

* loss of hearing right side

* blue hands, tachycardia, high blood pressure

As you can imagine it’s been an awful year and I am not getting anywhere with a diagnosis.

Any ideas?

Lucy

Update: I have had some other bloods come back:

*Scleroderma Th/To antibodies - weak positive

*Scleroderma Ku antibodies - weak positive

*Myositis Mi-2a antibodies -weak positive

*b12 - high

*Raised CRP

[PMRpro]

I'm by no means an expert in vasculitis but that was the first thing I thought of when reading your signs and symptoms. The RP11 positive result is also possibly a sign of systemic scleroderma. Have you been referred to a specialist vasculitis unit such as the Royal Free in London?

[F9927 in reply to PMRpro]

Thanks for your reply. I have been seen by vasculitis specialist and they ruled this out. I like you thought this was likely. Have seen initial specialist for systemic sclerosis and they also think unlikely. It’s so frustrating!

[PMRpro in reply to F9927]

When you say vasculitis specialist - was it a REAL one (like at Royal Free) or a rheumatologist who thinks they are one? The trouble is, too many everyday doctors think they know more than they do and just aren't curious enough.

I think I would be frustrated too.

[F9927 in reply to PMRpro]

I was sent to Addenbrookes in Cambridge who specialise in Vasculitis. So whilst I thought this was most likely they said no. So I now have a long list of issue and drawn a blank on diagnosis and therefore treatment

[PMRpro in reply to F9927]

Hmm - so they claim. But I've heard mutters about them before.

If it were me, I'd try writing to this lot

rfhkpa.org/lupus-vasculitis...

And have you tried the VasculitisUK forum here?

[F9927]

Thanks for your reply and help. I have been referred to Royal Free for the possible systemic sclerosis so will ask about possibly passing me to vasculitis team.

Haven’t seen the forum will have a look. Ironically it was Vasculitis Uk that thought it was most likely vasculitis.

[OldTed60 in reply to F9927]

RP11 is most associated with Systemic Sclerosis so it’s good that you are going to Royal Free. I was diagnosed there last year by Prof Chris Denton who is one of the world experts on Systemic Sclerosis. I saw him privately as a one off with the approval of my NHS rheumatologist who only specialises in Lupus not scleroderma. You may have an overlap CTD which includes vasculitis and scleroderma as well as Lupus. Blue hands might possibly be Erythromelalgia which can often cause blue cyanosis when it’s inactive - a bit like Raynauds but with more widespread coverage. The loss of vision in your eye is a real worry and sounds more vasculitis- like to me. But Royal Free, especially Prof Denton, would be able to diagnose you hopefully. Best of luck x

[F9927 in reply to OldTed60]

Thanks for your reply. I ended up not seeing Prof Denton but one of his colleagues who said he felt the RP11 was a false positive. The hands he said looked like bruising!

It’s so frustrating remaining unwell and I haven’t met one professional yet that feels any concern about the loss of my sight or hearing.

The last flare I had saw me in hospital with polyuria, tachycardia, raised blood pressure (normally low) and Linear atelectasis lung. I was discharged as they had no idea what was wrong. Terrified to be left in that position again.

Appreciate your reponse.

[OldTed60 in reply to OldTed60]

I believe they are guided by the titre with all these ANA & ENA antibodies. Eg I sometimes carry a borderline Th/ To antibody as well as my high U3 RNP. Prof Denton said these are usually false positives when only weakly positive. However some years earlier a different rheumatologist from a different hospital frowned when she saw this on my notes and diagnosed me with scleroderma overlap CTD due to other classic signs, Raynauds and the Th/To. But back home they refused to accept this. Later my U3 RNP showed up and no one said this might be a false positive as titre was too high each time I was tested.

I’ve read people on SRUK and heard from a friend that other Royal Free drs aren’t as good as Prof Denton. But apparently the only way to be sure it’s him you’ll see if you book a private consultation. The best test for full blown Systemic Sclerosis is the nailfold capillaroscopy - but even this can take years to show positive for some. It took me 12 years to get correctly diagnosed!

[F9927 in reply to OldTed60]

Sounds like a long road, I have a U3 RNP at 38, ANCA is positive homogenous. Sounds like the private route is the way to get to see him. Nail folds the person who did struggled so not sure how accurate. They couldn’t find my capillaries.

[OldTed60 in reply to F9927]

I’m confused - you didn’t mention U3 RNP but specified RP11? If both plus ANCA then it’s more likely to be classed as undifferentiated (UCTD) because most with scleroderma or others will only carry ANA plus single antibody at a high titre - eg my U3 RNP was +90 consistently - having been normal two years previously. This ambiguity might be holding up your diagnosis I’m guessing along with the hearing and vision loss? No capilliaries tends to only happen in advanced Systemic Sclerosis I was told. Whatever - it certainly doesn’t seem right that you could be dismissed by any drs with such horrible symptoms and signs of a connective tissue disease or vasculitis. You really need an out-of- the-box thinker to take an objective over view I feel. Best of luck finding one. They do exist but are like hens teeth to locate. Dr E Price in Swindon is one such. She diagnosed my godmother with GCA and effectively treats her still on the NHS but also sees patients privately xx

[F9927 in reply to OldTed60]

Thanks for your reply as systemic sclerosis bloods are new to me I find it hard to differentiate between those linked and those that stand on their own. Have attached so I don’t confuse.

Anti-RNA polymerase Ill antibodies are positive and RP11 is 30 if reading right?!

The capillaries scan he had to bring someone in as they couldn’t be seen but this could be a machine/human error I was told by rheumatologist.

I definitely need someone with an interest and who can put it all together. Thank you for your help and clarity x

Blood work

[OldTed60 in reply to F9927]

Ah right - Fibrillarin is mine (also known as U3 RNP or AFA - so confusing!) It’s also associated with diffuse scleroderma with increased mortality and younger onset. But I’m 61 so hopefully this doesn’t apply to me. I have come across a few others with it online but only at a lower titre so also viewed as “of uncertain clinical significance same as yours. Whereas mine has been too high to be queried. The one thing I have observed in a larger scale French study from a few years ago is that it’s associated with the worst severe GI involvement and I certainly tick that box with a stoma and severe gastroparesis etc. My rheumatologist wrote to Prof Denton to ask about treatments for severe scleroderma gut and he confirmed that this is antibody related and stoma would likely be my best bet for improved quality of life. So I think these scleroderma antibodies still have some relevancy - even at lower titres. Perhaps your Lupus has moved towards scleroderma and vasculitis as an overlap CTD now?

[F9927 in reply to OldTed60]

It’s madness that they can’t use the same names for bloods across hospitals. I am sure a stoma was an adjustment but probably better in the long run for your health.

What I have experienced over the last two years definitely feels different and not like lupus, so we will see what Royal Free think.

Now that I know RP11 is different from RNA Polymerase III. I looked up what RP11 is and it can cause retinitis pigmentosa  of the eye, loss of eyesight.

Why has no one ever mentioned this!

[OldTed60 in reply to F9927]

How awful that no one’s thought to mention. I know that the comedian in strictly, Chris Causland, has retinal pigmentosa - also our old dog has it and the eye vet diagnosed it easily. So if it’s this then you’d think an eye hospital would easily have identified it but perhaps it’s presented differently for you. It would be a good idea for you to ask about all of this in the SRUK HU community or the Inspire scleroderma foundation community - or both X

[F9927 in reply to OldTed60]

Maybe they did and discounted it and just didn’t share. Thanks for the suggestion the SEUK HU community, haven’t heard of either. X

[OldTed60 in reply to F9927]

Do you have Raynauds and GI problems?

[F9927 in reply to OldTed60]

Have GI problems and Raynaud's dont think so accept broken capillaries and the one time blue hands

[OldTed60 in reply to F9927]

It’s very unlikely that you have scleroderma without full blown Raynauds attacks. Your photo looks like Raynauds to me but you’d probably have it frequently along with swollen hands and skin tightening if you had systemic sclerosis. It maybe worth researching Myositis more though. I would agree with KayHimm that sticking to a Lupus expert may be most helpful

[F9927 in reply to OldTed60]

Thanks for your help appreciated

[KayHimm in reply to OldTed60]

Did I say sticking to a lupus expert would be best option? I think the scleroderma doctor is waiting for test results. Maybe I misunderstood.

I would take seriously an expert’s interpretation of low titres with auto- antibodies. That is the whole purpose of seeing an expert. They can know the significance based on clinical features, how often it is positive and if there are other cross reacting antibodies. When the scleroderma said she had a false positive he could have known about one of her lupus antibodies that cross reacts. So many possibilities.

I think the GP is taking control and is impressive. Someone’s rheumatologist would likely be furious but looks like GP feels justified.

I know almost nothing about diagnosis of anything beyond lupus and lupus-related things. I have never had progression in terms of a new connective tissue disease. Her GP seems very concerned and looking to experts as symptoms may not be typical of lupus.

The scleroderma expert’s consultation will be important.

There is no definition of what constitutes an expert in any of these diseases. I guess if someone is working at a lupus clinic or scleroderma clinic and researching those areas, they would be considered experts. I have always seen a general rheumatologist but maybe I wasn’t as hard to diagnose. I bet a lot of rheumatologists in New York send their patients with scleroderma or polymyositis to specialized centers. Lupus and RA are considered bread and butter conditions in rheumatology. We learned that in listening to an interview with a young guy trying to decide whether to go into academics or private practice.

Hoping Lucy gets answers.

[F9927 in reply to KayHimm]

Thanks for your reply I have always had faith in my Lupus team but that has dissipated. I guess when you have had the two years I have and they have shown little to no interest in getting to the bottom of the cause it is hard to trust them. Hence my GP actively seeking advice and support from others. Hopefully they will work it out.

Either way they are agreed that disease modifying medication is needed so that I am sure will help. Fingers crossed

[OldTed60 in reply to KayHimm]

Sorry - can’t find it now but I’m away from home in a son’s freezing flat and have really bad Raynauds so iphone not responding well to my scrolling etc. I thought I saw that you’s suggested the London Lupus centre however I may have been wrong or was thinjjng of other comments on different posts. I think it can be a mistake to see too many specialists in too many hospitals. Treatments for Lupus and scleroderma are similar but I’m shocked at the ophthalmologists for failing Lucy when she’s actually losing vision - same with hearing. These problems are so serious. Unlike you I don’t really trust doctors - even lovely ones - unless they are too much of a world renowned expert to be wrong ie Prof Chris Denton. I have a friend with diffuse scleroderma who travels far to see him at Royal Free on NHS but last time got less luck in the draw and ended up with one of his junior colleagues who knew less than my medically trained friend. I could well be wrong but in Lucy’s case I wonder if seeing an eminent Lupus expert - given this was her primary diagnosis for decades - might be more helpful than seeing one of the Royal Free’s SSc team. But there nay be people on SRUK who might be better at advising on these antibodies and symptoms than I am.

[F9927 in reply to OldTed60]

Hopefully you’re now somewhere warm. Being cold and raynards are not a good mix.

Yes agree having too many professionals involved is not great but I have had little choice but to actively look for help elsewhere.

Hopefully the bloods that RF have done will give them a better steer and if I don’t get anywhere the suggestions given of the London Lupus clinic is a good one.

I am grateful for this community to have responded and given insights. Will let you know how I get on.

[OldTed60 in reply to F9927]

Hi again. I’m home in the warmth of my own space again now although unfortunately have split from the Raynauds on tip of my dominant thumb looking ready to ulcerate - yikes! Best of luck with Royal Free news and please do join the SRUK group where others are much more likely to share and have thoughts on your antibody and symptoms I’m guessing. There seem to be a few people there just now asking similar questions to yours. I hope you may update us on there too as I come and go from this group and never post here, not having Lupus myself - but having Sjogren’s. healthunlocked.com/sruk

[F9927 in reply to OldTed60]

Hope the thumb heals up quickly. Thanks I will join the SRUk and post, patient insight and lived experience is always so helpful.

Have just had more bloods back so will post these too.

Scleroderma Ku antibodies and Scleroderma Th/To antibodies are weak positive. Will be interested to see if the team consider these important. Alongside the Scleroderma RNAP III antibodies positive and Myositis Mi-2a antibodies weak positive. Thanks for your kindness

[soul22]

Hi nice meet youCould it be von wilderband( not sure on spelling) it's where bleed to much bruises alot etc

syndrome a bleeding disorder a simple blood test possible more needed regarding bruises so much I'm positive for it but much milder

[F9927 in reply to soul22]

Thank you for you reply this has been ruled out but I have been referred to a haematologist so am sure they will look at blood issues

[soul22 in reply to F9927]

Your welcome All best that's great they never got me referred to heamotology supposed to il ask to do so based on test.

As they specialise in that

[KayHimm]

Lucy -

The best thing you can do for yourself is understand what the consultants you have seen think is possibly causing your symptoms. Sending you to academic centers with scleroderma and vasculitis specialists makes me think your doctors are very concerned.

Even if the specialists have ruled out certain conditions, they may have suggested possibilities. That would be good to know. Is your lupus contributing to the hearing and site loss or is it another cause? What did the ophthalmologist and ENT say?

You have had a lot going on after managing for years. I learned from a forum member to ask questions this way: What makes you think that .. ? It is so helpful in gaining an understanding of what a doctor is thinking. If you pose the question that way, your rheumatologist may respond with « the Addenbrook’s experts say vasculitis is usually accompanied by … or they haven’t ruled out vasculitis and want me to watch for … »

I think you will feel more empowered if you understand better what has gone into your consultations.

One thing I have learned is I am usually wrong. What I read falls apart when the symptoms and labs are put in context. That’s a good thing because we can think the worst, right?

So ask questions at your next visit that will best help you to understand what is going on.

If you have letters, leave your name off and post them. We may be able to help.

[F9927 in reply to KayHimm]

Hi 👋🏻, Thanks for your reply. I have had Lupus for 23 years and is well managed. I have flares but nothing like I have experienced over the last two.

My team didn’t send me to Addenbrookes or RF it was my GP who is very good and was concerned that no one was looking into the growing issues: eyesight loss, hearing and blue hands. My team have since said it is rare but no idea or suggestion as to what.

I now also have a positive Myositis Mi-2a which would again suggest a different diagnosis.

Just concerned that I will loose more or my sight and hearing before they work out what it is.

I do ask questions but I feel it’s time for a new team as they have drawn blanks and aren’t moving my diagnosis forward

[KayHimm in reply to F9927]

Yes, I agree. I would not be happy if my rheumatologist did not pick up on these issues. You are fortunate to have such a good GP.

Maybe your GP is a good person to ask about how best to move forward.

Does the scleroderma center know about your new antibody? Maybe your GP could send the results to them.

Are they concerned about your low haptoglobin? I remember getting tested for that often when been worked up for autoimmune disease. Could it contribute to any of your symptoms like the bruised fingers?

Best of luck

Kay

[F9927 in reply to KayHimm]

Thanks Kay, I am very lucky to have such a good GP and one interested in autoimmune disease.

The scleroderma team did the blood test so I am sure they will follow up 🤞🏼

The haptoglobin I will discuss with the hematologist.

It’s not great being in the territory of rare and no one really having an idea of why but highlight more and more things wrong. Thankful for your help and replies

[KayHimm in reply to F9927]

It sounds like the scleroderma expert is still investigating. They may have an opinion after all the labs and other tests come back.

You are in a hard place. It is frightening to have lost eye sight and hearing.

Hang in there. These things can take a long time. It took months to diagnose my autonomic dysfunction. They have a process that has to be followed with certain things ruled out first.

The hematologist will certainly be able to explain your low haptoglobin. You might have had this for a long time or it might be new.

Hang in there. Let us know the conclusions.

[F9927 in reply to KayHimm]

Thank you I will definitely come back if and when I get answers. Appreciate all the help

[StriatedCaracara]

Hi F9927

I follow my instincts and I also am sceptical. I search hard for help. Might it be possible to ask if somebody at the London Lupus Centre would see you.

I had to go private for any sort of diagnosis. Somebody there might have an interest in vasculitis.

I have what I think are vasculitis issues and I'm trying to get the testing you have had

My GP has refused to make referral, even to get bloods done privately, saying that she had tried for another patient on the NHS and failed and that she would not understand the results if she referred me privately for bloods. I got the feeling nobody sees it as their responsibility.

I have been an eye hospital patient for four years, they were always wanting to check on a lesion on the retina in case it was malignant, I no longer see a doctor when there, they just scan and review remotely and probably have a focused tick list matching their interests. When I sent them info saying I thought it might vasculitis they then discharged me back to optometrist at the opticians to my surprise. I have many eye issues since covid.

So leaving to discuss with rheumatologist, next appointment, if my tender scalp and associated eye symptoms return. Fortunately drugs I am on at the moment seem to working but I get some one sided migraines when bright light strikes the lesion. I have three times had Giant Cell Arteritis referrals, but ultrasound of temporal artery negative. They don't seem to be able to check for inflamation elsewhere

My ESR only goes up to 18 is...which is not high enough, using the calculation and applying to middle aged women, given the system they use.

I wondered what eye checks you have had and if you have had follow up with an ophthalmologist.

[F9927 in reply to StriatedCaracara]

Hi, sounds like you are also having a frustrating time.

A private review sounds like a good suggestion and has been mentioned a few times by others.

I saw Optamologists at Morefields who were good but other than suggestion of optic Neuritis or ischemic issues drew a blank.

The challenge is no one puts it all together.

I would push your GP for a referral to a specialist centre who would be able to do the more advanced tests.

I hope you get some answers soon

[JerrysGirl3]

are you on lupus meds? It's been a long time for me but I swear I remember reading about sight issues....

[F9927 in reply to JerrysGirl3]

I am but that’s been ruled out and yes your memory is right they can cause sight issues