Update - last week’s CTD consultation

[MAT51]

Hi - not been here for a bit but thought I'd update. I'm in Scotland UK so this is an account of my most recent four monthly NHS rheumatology/ connective tissue disease clinic appointment for anyone who may be interested.

Despite expecting to I didn't get to see my rheumatologist again - although she arrived at same time as me. But I saw the nurse place my notes outside vascular doctor's room so I knew I'd be seeing him again. Not a problem for me because he's very good and helpful and the two of them share the CTD clinic always. He had a male medical student in and I had my husband with me, who's day off it was fortunately.

After years of not really understanding a word my husband now enjoys coming with me to appointments. He says it's fascinating to watch and listen to these consultations now. I sent a list of symptoms and questions by email and he had this in front of him on the screen.

The first thing the doctor said was "from your list I think it's neurological involvement we need to focus on now". He explained that the main concern about me is that small vessel disease of my brain which apparently is small vessel vasculitis secondary to Sjögren's - which might be progressing now from my account of symptoms - and also that the apparently worsening neuropathy could possibly be mononeuritus multiplex.I queried whether nerve conduction studies and EMG would be 100% reliable at showing MM and he thought hard and said "this is why we don't usually take nerve biopsies nowadays - they are invasive and can cause lasting damage and EMG and NCS have replaced them for a good reason and are sensitive enough to detect any CNS involvement".

He seemed to think neurology input was pretty fundamental and assured me that part of their job description is seeing people like me with systemic autoimmune diseases. So I'm down for another MRI of brain and neck and he's going to research what time interval further NCS and EMG should be done to monitor disease progress as he doesn't know how rapidly changes might occur.

I told him about physio appointment yesterday and he just nodded in agreement that my gait issues etc are neurological rather than mechanical so no need for x-ray of my knees. I told him about the Erythromelagia in feet and finger tips and he was completely shruggy about this and said existing and permanent nerve damage will inevitably cause this type of vasospastic response. He feels I have a lot of damage to my small nerve fibres and thinks that this is most probably due to some small vessel vasculitis. But unless it shows up in my brain as progression of existing white matter - he feels re-introducing immunesupression is like using a splatter gun. He wants us to be targeted about these drugs rather than rely on guesswork. He also agreed to get my left kidney ultra-sounded when I flagged up a large irregular cyst - bearing in mind my frequently mucky pee and several recent kidney infections, swings in BP etc

He said he can understand that the small fibre neuropathy damage is distressing and debilitating - but in clinical terms it isn't anything they can prevent with immunesupression so his concern is with my brain and other organs which would require urgent treatment if progressing.

I told him about my EDS research with my late mum and niece and showed him the skin on my face - presently mottled with red spots made of burst capilliaries - and my nails with same. He said not in keeping with Scleroderma telengecstasias but quite possibly showing an inflammatory process associated with my CTD. But then he added that, although helpful to an extent, none of this is diagnostic because fair skinned people like me do get burst cappilaries on their faces as they age due to increasing vascularity of skin. I returned that these are new to me and he said okay well probably my particular combination makes it likely to be related to CTD inflammation - but again - it's the brain imaging that will pave the way for further immunesupression or not. He did note down the hEDS/ high Beighton score and noted my account of my gallbladder attaching to liver, tilted cervix and maternal history of stretchy intestines etc. He said my itchy facial spots are not rosacea, but are just tiny burst capilliaries and there is no treatment apart from sun and wind avoidance and stress/ straining ? - he pointed out that my violent winter cough would definitely not have helped.

[MAT51]

Continued.....

I really emphasised to him the awful peripheral resting pain I'm getting and the internal resting tremors and vibration in my foot and leg and told him yet AGAIN that I feel that my high inflammation markers absolutely reflect this pain. I asked if it was definitely nerves or could it be bone related? He wasn't sure but said most likely vascular - small vessel vasculitis. He didn't examine my legs at all though which means that it's over a year since I was physically examined by a rheumatologist now. I said I have no rashes presently apart from stuff on face and he said it's a myth that all forms of vasculitis show up in skin lesions. Renal Vasculitis and CNS vasculitis more often do not apparently.

He will see me again in 4 months time, hopefully with neuro input by then. I am having renal  ultrasound this coming week and a third brain MRI soon. I see ENT for tests for Eustacian Tube Dysfunction in 2 weeks. Apart from crazy vibrating right foot and leg 24/7 I am actually feeling rather better just now than I've felt for a while - shhh not wanting to tempt fate! 

[anita]

So what 'urgent'  brain/organ treatment is he considering?  How does he think they treat SFN?

It appears he listens and acknowledges your symptoms but I don't see any suggestions of treatment.  What's his treatment plan?  Is he considering the EDS?

[MAT51]

Well I have asked him before about IViG for SFN but he has dismissed this as neurology's treatment and a probable non starter because of the huge expense. It is only used for demylenating conditions and only a few times before switching to DMARD immunesuppression. The only hope for me is Rituximab but I would only be offered that apparently if I had progressive brain or large nerve fibre involvement or perhaps kidneys - although going back on Cellcept for that would be more likely. We didn't get further because his hands are tied and his focus was on my brain.

Personally I don't think anything more will show up at all but it really should. By this I mean that my symptoms are changing and I would say, progressing. I can't see how this extent of vibrating all up my legs and bizarre EM pain in my toes and problem with standing and my gait are all related to SFN. I feel some form of Vasculitis is occurring as my CRP is rising. But if it is there are no clues in my skin or immunology blood ie ANCA. And to this extent the appointment was hopeless - I have to hope for kidney problems or more white matter to show - which I don't think it will and of course I don't want it to. My spatial problems and gait haven't significantly worsened in terms of cognitive deficit. Nothing showed up by CT re my renal cyst having changed in 2016 so unlikely that my ultrasound later this week will show anything but I rather think this is my only "hope". X

[MAT51]

So what 'urgent'  brain/organ treatment is he considering?  How does he think they treat SFN?

It appears he listens and acknowledges your symptoms but I don't see any suggestions of treatment.  What's his treatment plan?  Is he considering the EDS?

PS he won't come up with a treatment plan unless we know exactly what we are treating in clinical terms. He feels strongly about this and he says SFN damage has already occurred now and doesn't believe there any treatments will prevent further damage occurring. This is the really awful bit for me.

PPS my only real hope of getting further treatment is if my RA returns - which it might as it has done before when I'm off all immunesuppression. My husband says due to lack of specific antibodies ie Ro/ SSA - that they want and are required to see whatever is occurring for themselves in order to know what they are treating objectively. Cellcept might just have been masking this underlying process.  There is method to their madness but to me it seems a risky strategy - although I'm very nervous of big gun drugs such as Rituximab.

He seemed quite interested in EDS but as you know there are no treatments and even mentioning could just have given them more to hide behind! It would be for a geneticist and a specialist in London to determine whether I have it and this isn't an option for me presently. I'd rather spend my money on treatments such as one to one with a Pilates instructor. I am to see a neuro physio though and ENT to determine whether I have Eustacian Tube Dysfunction.

[anita]

As brought up on Neurotalk, your tremors can be a sign that there IS large fiber involvement.  However, you'd have to have EMG/NCS testing again to confirm this.  And a repeat skin biopsy to confirm the SFN...and track progression.   I had the wicked nerve/muscle biopsy (the invasive one), but it was long ago and now they don't do them...except rare cases.  But EMG/NCS can check large fiber damage and these tests aren't bad at all.  Probably a good idea for you with your tremors to rule out/confirm large fiber damage.

What increased symptoms of small vessel disease in the brain are you getting?  Are you getting TIA type symptoms?  If so, then he should immediately get you on a blood thinner...even if just an aspirin.  They will be able to compare the MRI's to see if there is any increase in small vessel involvement. 

I can't imagine where I would be at now, if I was not getting IVIG for SFN (and CVID).  It has made such a difference...reduction in pain and obvious reduction in progression, compare to rate of progression before I started it.  It may not have reduced the autonomic symptoms (that damage is permanent), but it has kept progression very slow, I think.  I hope to get my third skin biopsy soon to compare and confirm whether the IVIG has helped the SFN.

At least you're feeling better!  That is what matters most!  Whatever you're doing, keep it up.

[MAT51]

The vascular doctor is looking into what intervals another NCS and EMG would be appropriate as I had the last one about 16 months ago so he needs to check how likely it is that anything would show up at this interval.

The 3rd brain and cervical spine MRI is because they identified some small vessel disease that hadn't  progressed in my second MRI 20 months ago. And I mentioned spatial disorientation and my physio has highlit ataxia/ odd gait. But none of these are new symptoms so I hope thecwgite matter will just be the same.

My legs, feet and hands are increasingly sore so maybe RA will resurface and this will be taken more seriously because it's easy to recognise and should qualify for Rituximab. Same goes for if the irregular renal cyst later this week shows CKD or signs of Vasculitis.

I'm so pleased IViG is working for you Anita. But you have to understand that there is no way I would be offered it here in the current financial climate, for SFN. I've asked and asked and all I get are verbal admonishments and suggestions that my condition doesn't warrant such a hugely expensive/ scarce resource. Every time I ask it alienates my doctors a bit more as they then think I'm exaggerating my symptoms in order to get treated. My "brisk" reflexes support this.

I asked vascular doctor about skin biopsies but he didn't answer. I'm guessing he thinks this is up to the next neurologist to arrange. I must say I'm fearful that if nothing shows up again then I'd be told I just have chronic pain sensitivity and if it does they are perhaps fearful that, if it shows extensive damage, I will be angry and sue them! My hospital has had a terrible press recently. A 19 year old with EDS and the worst case of gastroparesis her doctor has ever seen -has been sent home to manage this herself - she's basically dying. It's all over the local press as her own small neighbouring  hospital is furious but too small and lacks the facilities or expertise to help her. I read this yesterday and feel very discouraged now. The UK is in a colossal mess healthcare wise. 

I'm on a slow release betablocker for the tremors but it doesn't seem to be making a difference to tremors or SFN/ puns and needles everywhere  - although maybe why I'm at least feeling less anxious about them lol?! X

[anita]

If you were not having tremors 16 months ago when the NCS/EMG was last done...or they were less severe, then it will show IF it is large fiber involvement.   However, if NHS won't pay for it until a certain time, then that is different.  Did the last one show anything?

At least you are not having any TIA symptoms...which is most common with small vessel disease in brain.  Never heard of the gait and such from small vessels.  But new MRI will let you know if any changes.  Have they scheduled this yet?

I know (and wasn't implying anything) about the IVIG.  I was just commenting on my benefit.  You never know...one day their rules may change and you may get it.  If you have another EMG/NCS and there IS large fiber involvement, along with your known autoimmune process, and other nerve damage, you may fall into the CIDP category. 

Not to mention that other people online may read this and see your comments that it is "only used for demylenating conditions"...which is not the case.  I know it may only be used for that where you are at, but elsewhere it is used for SFN, and other neuropathies related to Sjogren's (and other AI conditions)...with positive results.

If you have another skin biopsy and it doesn't show SFN...that would be great!  Then the pain may be from allodynia or something similar...BUT your nerves will be OK...any that is most important.  Also means there is no progression.  You really need to know for sure...so you know what to treat.  I imagine it will show up, though.  Then it being confirmed will document it for down the road to recheck for progression.  They can always say now that your SFN is 'questionable' or 'not confirmed' and deny treatment options for you because of this.  New treatments may be available one day and you having this documented is best for you.  Frankly, if you considered suing, it should be for them NOT repeating the biopsy after what you said about the procedure and transit of sample and that they only did one site.  I might have been positive the first time...had it been done right.

Is there options to increase the betablocker?  Did they start at lower dose to see how you did and whether it helped...then with room to increase should it not resolve the tremors?  Might be worth asking.

[MAT51]

Hi Anita. I think a new neuro and my vascular doctor will be able to push for skin biopsies - particularly if I keep asking for them.

I am sure it's SFN rather than Allodynia because I'm not sensitive at all to the touch. Also my CRP rises in conjunction with pain. And when I get in a bath (often just to warm up!) my toes and other afftected parts go bright white - as with Raynaud's. When skin of legs is exposed to air I get Livedo and often my feet just go blue/ purple. I asked the vascular doctor about this and the worsening Erythromelagia and he confirmed that this and the patches of numbness everywhere are due to permanent nerve damage from SFN. I have my photos which tell me that there are visual clues to show existing SFN damage.

These colour changes are not new though - I've been getting them for about 5 years now and they were there prior to the skin biopsy. So either my biopsies were unreliable or perhaps skin changes hadn't yet affected my calves in a way that showed - bearing in mind that it's non length dependent.

My NCS was entirely normal 18 months ago and the neuro physio was very thorough because she could see the weakness/ vibrating in my arms for herself. I keep wondering if this fine vibration - which is extremely pronounced in my legs now but affects my entire body 24/7 - represents a different underlying process perhaps? I mean Parkinson's doesn't show on nerve conduction studies or brain MRI - only sometimes in DAT scans. Perhaps my Dopamine levels are skewed and I have early stage Parkinson's? MS wouldn't show up in NCS and my lumbar puncture of 3 years ago showed paired oligloclonal bands so perhaps I have a systemic process of Sjögren's AND MS and this might account for the relapse/remit side of things and my numb face etc?

I think some people do have neurodegenerative conditions which don't show up in tests until they are pretty advanced. Of course I hope not but I'd rather know what I'm up against. If all the vibrating and twitches and numbness and tingle are due to SFN and damage done then I still want to know for sure so I will keep asking. 

The big question with me is whether this irepairable damage has occurred but is self limiting. Or whether it is progressing. And if its progressing and this is confirmed by skin biopsies then the question is whether there are treatments to prevent it progressing further and, if so, whether I'm eligible for these on NHS. Being realistic I think this is highly unlikely to lead to IViG for me in the present financial climate. They can and do tell people that the expense is just too prohibitive - but we will see.

I'm having a renal ultrasound today and haven't yet heard about brain and cervical spine MRI - which I'm dreading as I'm claustrophobic. Last time they forgot to ask me what music I had chosen and I got Ed Sherhan chosen by the teenage boy who had been in before me!! Hyperacusis with tinnitus make this form of investigation a complete nightmare for me! ENT testing for Eustacian Tube Dysfunction a week tomorrow despite my extended vestibular flare up having at last eased so no vertigo at all just now. I think it will be a long time before any of my doctors can attribute my symptoms to anything other than Sjögren's SFN.

[anita]

The skin biopsy of two sites (to determine length or non-length SFN) and morphology testing (to determine condition of fibers) along with EMG/NCS will tell you exactly where you're at.  Then the SFN will be confirmed (I'm pretty sure yours will come back non-length based upon your face and other areas with issues), and the question of large fibers will be answered once and for all.

You are right that some people may have conditions even when testing is negative...but they usually show positive with other (similar) tests.  When my first biopsy was done, the fiber density (which determines whether you have SFN) was within normal range.  Birnbaum was certain it would show SFN.  He retested and asked for morphology to be done...and there was the answer.  The SFN was not in the density, but in the condition of the fibers...they were in horrible condition.  EACH site (3 on each leg---ankle, knee and thigh) showed fiber swellings, as well as tortuous and segmented fibers along with patchy distribution.  So even though the density was normal, my nerves were not and showed signs of significant damage.  This is why I have several times mentioned asking for not only the biopsy be repeated, but that they do morphology...because it can make a difference in your diagnosis.  My density did drop below normal later on, but had he not done the morphology, I would have been shuffled off as not having SFN from the start...when I actually did.

You mentioned NCS being normal...did they ever do EMG testing with the needles?

[MAT51]

Well I'm presently on wait-and-watch Anita. The vascular doctor wants to see what new neurology assessment brings to the table. I had my kidney ultrasound yesterday and all was fine so I'm making an educated guess that the pelvic and buttock pain and muscle spasm/ twitching in buttocks and thighs is neurological/ neuropathic too - as my physio said it's not arthritic but I do have muscle wastage.

She feels all that is wrong is neurological rather than mechanical - no nerve entrapment or Fibromyalgia to explain my Ataxia, muscle wasting or patches of lost sensation. She is treating me for mild arthritis in one knee but has referred me to neuro physiotherapist for everything else as she says she's out of her depth.

I admit I fear them deciding on functional neurological disorder (FND) at some stage as they have done with a Sjögren's friend up here. What they can't explain in my case is how my CRP rises with this pain. I think this is all that keeps me from a functional diagnosis to be honest as they do like to say that we with Sjögren's have a heightened sensitivity to pain.

I had an EMG 3 years ago when I suffered what was described as "functional left sided hemiparesis" - after a fourth spell in hospital for post op sepsis. In fact I later discovered the TIA-like episodes were due to Tramadol. I think I did perhaps have this with my NCS but on my peripheries rather than my head. The earlier one I recall was in my head - electrodes and gel and a funny cap? My doctor looked it up and said he wasn't sure of the time intervals to reassess or measure changes - but the neuro physio told me all was entirely fine - she was a bit baffled so was extra thorough.

I will keep on at my doctors about skin biopsies Anita - but working on this adds to the overall degeneration of energy and health and labels me as a health obsessive - so I need to choose my battles carefully. I'm not sure they understand enough from the skin biopsies here to make this worthwhile. I will see what the next neurologist says when I finally get to see one. There's a 15 week wait before I even receive a letter inviting me to phone for an appointment!

They want to see where things go with me now I'm off all immunesuppression meds again. Will RA return, will Scleroderma appear or large nerve fibre involvement start or is the small vessel disease progressing? - might this be a kind of ANCA negative Vasculitis? They know I've got something inflammatory going on as well as active Sjögren's. Elevated CRP isn't Sjögren's related. But are there other comorbidities?

They know I'm hyper sensitive to meds and have had anaphylaxis 2 times so even if IViG were readily available and affordable they would be concerned at treating me with it if the potential risks and potential benefits weren't clear enough. My vascular doctor is very cautious - not for litigative reasons but because he only believes in targeted treatments only. So he wants to leave everything unmasked as possible. I'm not sure what he would say about the introduction of higher dose of betablocker but I'm now on 80mg Propranolol by slow release. All I'm noticing so far is a dramatic increase in the vibrating tremor everywhere and a lot of pelvic and left sided flank pain - guessing at interstitial cystitis or neurogenic bladder since I have had this pain coming and going for most of my adult life.   

[anita]

Well, we'll just have to wait and see.  But they have mentioned biopsies more then once, so I'm hoping they act on it and not make you hound them to do it.

Did they tell you CRP wasn't Sjogren's related?  CRP is to check inflammation...which can absolutely be Sjogren's related.  Those lymphocytes and plasma cells they found in your lip biopsy are white cells...and indicative of inflammatory process.  An elevated CRP is a sign that your Sjogren's is either out of control, or you can also have another inflammatory process elsewhere on top of it.  Mine goes up...so does SED, but it can be from Sjogren's or my Psoriatic Arthritis.  Your RA may be more active then they think.  Certainly they are taking your elevated CRP seriously...right?

You have a great attitude for all you have to put up with.  We'll just keep our fingers crossed that they get you some definitive answers via biopsies and EMG/NCS, and find the best course of action for you!!