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
*RP11 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
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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?
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!
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 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
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.
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
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.
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!
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.
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
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
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
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.
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
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?
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
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.
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.
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Eye troubles
Diagnosis based on ANA and symptoms only?
Negative ANA - but lots of lupus symptoms and rash?
Cns symptoms.
MS or Lupus
