SS Autonomic dysfunction & specialists NSW

[Caz2017]

Hi everyone

I am hoping for suggestions of a neurologist in NSW with a speciality in autonomic dysfunction associated with Sjogren’s disease.

I have had SS for over 20 years and coped quite well. Over the past 10 months I have developed peripheral neuropathy, palpitations, lightheadedness, excessive sweating, rashes, headaches, loss of thermoregulation, loss of hair on arms and increased hunger.

Many thanks for any contributions.

Caz

[Megansheart]

Hello Caz2017,

Do you already see a Rheumatologist?

As you say, it sounds like you are experiencing autonomic failure/dysfunction possibly associated with SjS. If that is the case, the NCS (Nerve Conduction Studies) neurologists do for neuropathic symptoms tend not to reveal the type of neuropathy which they call small fibre neuropathy and which is the type more often assoc with SjS. Consequently they say that the tests are negative or relatively so (and that there is nothing wrong).

Small fibre neuropathy is only really diagnosed with a IENFD (intra epidermal nerve fibre densimetry) and is not done in Australia to the best of my knowledge.....or at least not done as recently as six or seven years ago.

Neurologists also do EMG’ s (Electromyography) which look at muscular responses to electrical stimulation. Aberrations to these parameters do not seem to be a big issue in SjS. So this test is not very useful for us.

Neurologists can order a tilt table test to determine the level of disturbance with blood pressure and heart rate responses. This is a useful test if you are exhibiting signs of POTS (postural orthostatic tachycardia syndrome) which can arise with autonomic failure. I was not given one of these tests but believe if I had, it would have uncovered the POTS.

Thermoregulatory issues and enteric issues are others which need to be diagnosed correctly but unfortunately in my experience, rarely does any one individual specialist look at all of these symptoms as a cohesive bundle..... even neurologists. They most often do not draw together widely disparate symptoms when they exist in concert.

Most of my initial symptoms in 2007 were neurological (PN, balance issues, accelerated HR, difficulty swallowing, temperature dysregulation, fasciculations, nausea) even before overt dry eye and dry mouth. Consequently I was referred to a neurologist. Then another neurologist a year later, neither of whom were at all helpful once results came back largely negative.

To answer your request more directly though, about ten years ago I had meaningful correspondence with a neurologist in Sydney, Prof Penelope Spring. Somehow she came to my attention so I wrote to her and had some interesting discourse with her mainly about the link below and the merits of IENFD. I’ve just checked and she is still practising in Sydney although who knows with covid how appointments are happening.

At that time this article was around (a bit old now) but worth reading:

horizonscanning.gov.au/inte...

So much more but this is long enough now.

[Caz2017 in reply to Megansheart]

Hi Megansheart

Thank you so much for your suggestion of Neurologist, Penelope Spring. I researched her publications and we seem to be a match! I now have an appointment towards the end of October. Yeh!

I now need to find a rheumatologist somewhere in Sydney, Canberra or regional areas of NSW or ACT. My current rheumatologist is a joint and arthritis man and has not heard of autonomic dysfunction in SjS patients. Any suggestions or recommendations for a rheumatologist specializing in SjS in NSW or ACT?

I have been taking beta blockers (atenolol) for 9 months to stop palpitations. I find they really restrict my ability to do any exercise and I am also very tired. Not sure if the excessive sweating is also making me tired. I have also have noticed that when I speak, sometimes the key words I use are close/similar to what I am trying to say but may have a very different meaning (hope that makes sense). As a teacher this can be tricky at times 😊.

The excessive sweating is now affecting my skin with any areas that the sweat collects or there is sweat and friction (skin on skin and clothing on skin). The skin is red and burns. Any suggestion for relieving this problem?

Appreciate any advice and guidance on the above.

Take care and thank you.

Caz2017

[Megansheart in reply to Caz2017]

Pleased to hear that you have now made a connection with Penelope Spring. Hopefully she will be able to address your concerns and symptoms.

As for a Rheumatologist in Sydney who may be SjS competent or even conversant, I cannot help you. Perhaps one of the other readers may know better, the Sydney Rheumatology scene. I am in Melbourne and although I have a Rheumatologist I wouldn’t say she is a specialist in SjS by any means. It’s a pity that this condition is not considered an equal to Lupus (it’s cousin) when so many body systems can fail also in SjS.

For me because I started my SjS journey from the neurological end AND remained seronegative for eight years (from 2007-2015), this meant I had to battle through finding individual specialists to address each debilitating symptom. I have already mentioned the neurologists I saw. They were the ones I gained the least from unfortunately.

I then saw a Rheumatologist (not the current one) for extreme joint pain and frequent disablement. He at least ordered the Lyrica (that the Neurologist probably should have prescribed) and Tramadol and mandatory Panadol for the pain.

Next I saw a Gastroenterologist for my extreme nausea and inability to eat, plus the inability to swallow. He ordered an oesophageal manometry test which revealed partial paralysis of the oesophagus and a GES (gastric emptying study) which revealed no digestion of solid food/Gastroparesis. So for the next five years I could only have a liquid diet. That professor put me on Domperidone which I am still on. Gradually I have been able to eat more and now apart from smaller quantities, I can eat most things!! Yay!

Then quite a number of times I saw a doctor who specialised in ME/CFS (remember I still didn’t have a SjS diagnosis at this stage). He diagnosed the POTS and put me on low dose Propranolol. Oh gosh, all I can say is, it was life changing as regards to the palpitations/fast heart rate and the terrible energy slumping which accompanied it.

One day I happened to mention to this same CFS doctors that I had lumps on the roof of my mouth and skin would peel off. Straight away he said ‘have you got dry eyes’? I said “I don’t think so, quite the contrary, my eyes stream when I’m outside but I have eye pain and blurriness”. He told me that streaming eyes can be a symptom of dry eye. He referred me to an Ophthalmologist where the tests showed virtually zero tear reduction. Just as the CFS doctor suspected, the Ophtho also mooted that this was probably SjS. 👍🏻 However it would be three more years before all my ANA’s and ENA’s were elevated.

So those few examples (there are a couple more) show the lengths I had to go through to improve my quality of life in the absence of a confirmed diagnosis.

Similar to you I too have struggled with word mixing. For example instead of ‘wheelbarrow‘ I repeatedly said ‘umbrella’ or vice versa. There were a lot of words like this which started to get mixed up after I became ill. This has improved though and only happens occasionally now. So there is hope of improvement!

There are medications which can help the extreme sweating. As it is part of autonomic dysregulation though, you need to raise it with the Neurologist.

I’m sorry this has become very lengthy. I need to quit.

[Caz2017 in reply to Megansheart]

Hi Megansheart

Hoping you are well and enjoying your new freedom from the constraints of COVID!

A quick update, I have had one consultation with Dr Penelope Spring. I learnt so much and left with many of my questions answered. I am booked in for nerve conduction tests, autonomic and sweating studies. I can get the nerve conduction studied done in 2 weeks, but the others may take up to 6 months due to COVID!

Thank you so much for suggesting Dr Spring. I see her again in 2 weeks for the results of nerve conduction test and we will go from there. C 😊

[Megansheart in reply to Caz2017]

Oh hello C.

So pleased that you found Dr Spring to be informative and able to answer many of your questions.

Some doctors are really worth their ‘weight in gold’ and are doctors with a real calling, not merely because they are following the aspirations of their parents or mummy or daddy’s profession.

I wish you well with the tests. I think I mentioned last time that to the best of my knowledge, the kind of neuropathy that SjS people have doesn’t often show up on these tests but good to have them done anyway.

Kind regards,

Megan

[Tempname]

Hi Caz2017,

sorry you've been having a hard time with this. Sounds quite similar to my situation, so I thought I might share below some online research I've done recently on SFN. I will be interested to hear how you get on, best of luck & keep us posted!

From: sjogrensadvocate.com/post/n...

"Do you have any of these?

1. Relentless, profound physical fatigue

2. Brain fog: Mental fatigue/cognitive changes

3. Dizziness or lightheadedness with prolonged standing

4. Widespread muscle pain / fibromyalgia

5. GI motility issues: nausea, constipation, diarrhea, bowel cramping, swallowing problems

6. Burning feet (or other parts of the body). Shooting pains, unexplained itching, buzzing, cold, numbness or tingling sensations. (I wonder does my 'hot feet' and hyper-sweaty hands & feet count?)

7. Burning pain in the eyes or mouth.

...Each of these symptoms may be caused, at least in part, by a common neurologic problem seen in Sjogren’s: Small fiber neuropathy (SFN). Small fibers are the unmyelinated nerves outside the brain and spinal cord that detect sensations and control autonomic functions such as heart rate, blood pressure, bowel motility, sweating, etc. Neuropathy means that these nerves are not working correctly. "

sciencedirect.com/science/a...

Dysimmune small fiber neuropathies

by Anne LouiseOaklander

"SFN’s cardinal symptoms—symmetric neuropathic pain and itch, postexertional fatigue, postural orthostasis, and postprandial gastrointestinal distress—are so nonspecific that confirmation with PGP9.5-immunolabeled skin biopsies is recommended for uncertain cases... Almost all nonlength-dependent iiSFN (sensory and/or autonomic ganglionitis/neuronitis) is autoantibody-mediated, with Sjögren’s syndrome most common. ...A small case series documents the responsiveness of apparently dysimmune SFN to corticosteroids, with four larger series reporting efficacy of intravenous immunoglobulins (IVIg). For immune-mediated SFN, pain management alone is only marginally effective, and it permits damage to continue, risking disability and medication dependence. In contrast, immunomodulation not only can improve symptoms, but also reduce medication use and encourage small-fiber regrowth and recovery. When SFN is arrested, the prognosis is good for restoring life quality and trajectory, particularly in young and otherwise healthy patients. Hence, the need to improve the diagnosis and treatment of dysimmune SFN."

Harvard's Anne Louise Oaklander gives a talk on "Small Fibers, Big Pain"

youtube.com/watch?v=s66LvWQ...(Not working as expected?)

healthline.com/health/small...

Diagnosis: Skin biopsies are the most effective way to diagnose small fiber neuropathy. They're only mildly invasive. During the procedure, the physician will remove several tiny skin samples, typically from the legs. The samples are then examined under a microscope for signs of small fiber neuropathy

Research articles on Treatment options:

Long-term efficacy of immunoglobulins in small fiber neuropathy related to Sjögren’s syndrome link.springer.com/article/1...

Schofield J, R, Chemali K, R: How We Treat Autoimmune Small Fiber Polyneuropathy with Immunoglobulin Therapy. Eur Neurol 2018;80:304-310. doi: 10.1159/000498858

karger.com/Article/Fulltext...

"Most recently, Liu and Schofield separately reported 2 large retrospective case series in the use of IVIg in patients with autoimmune or “apparently autoimmune” SFPN with similar response rates of approximately 80% [2, 22]."

Liu, X., Treister, R., Lang, M., & Oaklander, A. L. (2018). IVIg for apparently autoimmune small-fiber polyneuropathy: first analysis of efficacy and safety. Therapeutic advances in neurological disorders, 11, 1756285617744484. doi.org/10.1177/17562856177...

ncbi.nlm.nih.gov/pmc/articl...

"Overall, 74% of patients rated themselves ‘improved’ and their neurologists labeled 77% as ‘IVIg responders’; 16% entered remissions that were sustained after IVIg withdrawal. "

[Caz2017 in reply to Tempname]

Hi

Thanks so much for sharing your research. The specialist has mentioned small fibre neuropathy, so the information you have given me is very relevant.

Will keep in touch about my journey - from a quick scan of your information it seems to take some time for a diagnosis and lots of travel for me - I live 600 km away from Sydney! Oh well good opportunity for shopping 😊