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Biopsy-confirmed NLD-SFN + autonomic symptoms - What caused yours?

Posted by kjammer21 @kjammer21, Aug 12 8:33pm

I’m hoping to hear from others with biopsy-confirmed NLD-SFN especially those with significant autonomic symptoms or whose NLD-SFN was eventually determined to be immune-mediated.

My skin punch biopsy confirmed NLD-SFN, but the underlying cause remains unclear. My neurologist has discussed idiopathic vs. autoimmune/immune-mediated, and I’m trying to determine what should come next diagnostically.

My symptoms include:

significant fatigue and reduced exercise tolerance
heat intolerance and excessive sweating
chronically low blood pressure/orthostatic-type symptoms
Raynaud’s
urinary dysfunction/altered bladder sensation
sexual/autonomic dysfunction
intermittent tingling/sensory symptoms
brain fog/cognitive fatigue
substantial day-to-day variability, sometimes with worsening after exertion

I also developed a positive ANA after previously testing ANA-negative, but rheumatologic testing so far has not established a specific systemic autoimmune disease. I have possible nail psoriasis and a history of longstanding iron deficiency, which has now been treated with IV iron and prescription Iron supplement.
I have significant spine issues. Cervical and lumbar imaging has shown degenerative changes, including disc disease/herniation with nerve involvement. I have experienced recurrent episodes of significant low-back pain with radiating hip/leg pain as well as persistent numbness of my left shin. I understand that structural spine disease can cause large-fiber/radicular symptoms and would not necessarily explain biopsy-confirmed NLD-SFN or the autonomic symptoms.
Q: However, I’m wondering whether others with NLD-SFN have also experienced significant or relatively early degenerative spine/disc problems, and whether their doctors considered the two related or completely separate conditions.

I’m particularly interested in people whose initial autoimmune/rheumatologic workup was unrevealing but whose NLD-SFN was eventually explained.

Q: What ultimately identified the cause of your NLD-SFN?

Q: Did autonomic testing (QSART, autonomic reflex testing, tilt table, sweat testing, etc.) help? Were there additional blood tests, antibodies, imaging, or other evaluations that proved important?

Q: Has anyone had both NLD-SFN/autonomic neuropathy and significant cervical or lumbar disc degeneration? Were they ultimately considered unrelated, or did your doctors identify an inflammatory, autoimmune, connective-tissue, or other condition that could help explain both?

Q: And for anyone evaluated at Mayo Clinic: did you see neuromuscular neurology, autonomic neurology, rheumatology, or another department? Who ultimately coordinated the investigation?

I’m not looking for an online diagnosis. I’m trying to understand what may still be missing from my workup and which specialist is best equipped to investigate it.

Interested in more discussions like this? Go to the Neuropathy Support Group.

Profile picture for dfgriggs
dfgriggs | @dfgriggs | Aug 16 8:22am

Hello kjammer21,
Your symptoms are an almost exact match to mine. I do see symptom exacerbation with excessive or increased activity. I also am basically seronegative on most standard bloodwork for typical rheumatologic conditions. I have had a UC diagnosis (18 mos ago) that is currently well managed with just mesalamine. While I cannot offer any input on causation as I am also seeking answers; I can offer that I will be meeting initially with internal medicine at Mayo in the coming weeks. Hopefully, they will be able to add to this conversation and provide some answers relating to underlying disease or condition so that possible healing avenues can be explored vs symptom management.

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dfgriggs | @dfgriggs | Aug 16 8:26am

Also, in response to your questions: Skin punch biopsy confirmed the nld-SFN. I have not had any autonomic testing done - yet. Add constant high pitched tinnitus to list of symptoms. If/when I have any results from my visit with Mayo I will be happy to share here. Looking forward.

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tjstout | @tjstout | Aug 17 2:40pm

I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread sporadic neuropathy and face , chest pain. Because symptoms are mostly relieved with prednisone, and because many other symptoms appeared as time went on, neurologist sent me to rheumatology, calling it immune mediated. So far, labs just show ana positive, and positive autoantibodies for both thyroid labs. They are calling me neuro lupus and will recheck labs in 4 months. I have been on ivig for over a year, and added Rituximab to try and get off these damn steroids which have caused osteoporosis. I'm also taking hydroxychloroquine. Also, my neuro dr said its very common to have autonomic dysfunction with nld sfn, so no need to test for it, it is treated with same treatment I am already receiving.

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4 replies
Profile picture for kjammer21
kjammer21 | @kjammer21 | 5 days ago
In reply to @dfgriggs "Hello kjammer21, Your symptoms are an almost exact match to mine. I do see symptom exacerbation..." + (show)
Profile picture for dfgriggs @dfgriggs

Hello kjammer21,
Your symptoms are an almost exact match to mine. I do see symptom exacerbation with excessive or increased activity. I also am basically seronegative on most standard bloodwork for typical rheumatologic conditions. I have had a UC diagnosis (18 mos ago) that is currently well managed with just mesalamine. While I cannot offer any input on causation as I am also seeking answers; I can offer that I will be meeting initially with internal medicine at Mayo in the coming weeks. Hopefully, they will be able to add to this conversation and provide some answers relating to underlying disease or condition so that possible healing avenues can be explored vs symptom management.

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@dfgriggs I hope you can find some answers! I am blown away by the lack of knowledge and understanding of our issues and how difficult it is making the root cause mission! I am
Also finding it difficult to get to specialist with proper autonomic testing equipment and capabilities. If you are comfortable and remember please share any updates on your investigation process and if you find anything that provides relief or insight. Best of luck to you 🤞

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Profile picture for kjammer21
kjammer21 | @kjammer21 | 5 days ago
In reply to @tjstout "I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread..." + (show)
Profile picture for tjstout @tjstout

I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread sporadic neuropathy and face , chest pain. Because symptoms are mostly relieved with prednisone, and because many other symptoms appeared as time went on, neurologist sent me to rheumatology, calling it immune mediated. So far, labs just show ana positive, and positive autoantibodies for both thyroid labs. They are calling me neuro lupus and will recheck labs in 4 months. I have been on ivig for over a year, and added Rituximab to try and get off these damn steroids which have caused osteoporosis. I'm also taking hydroxychloroquine. Also, my neuro dr said its very common to have autonomic dysfunction with nld sfn, so no need to test for it, it is treated with same treatment I am already receiving.

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@tjstout what are you taking that is helping control your autonomic symptoms?

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Profile picture for matilda1993
matilda1993 | @matilda1993 | 4 days ago
In reply to @tjstout "I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread..." + (show)
Profile picture for tjstout @tjstout

I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread sporadic neuropathy and face , chest pain. Because symptoms are mostly relieved with prednisone, and because many other symptoms appeared as time went on, neurologist sent me to rheumatology, calling it immune mediated. So far, labs just show ana positive, and positive autoantibodies for both thyroid labs. They are calling me neuro lupus and will recheck labs in 4 months. I have been on ivig for over a year, and added Rituximab to try and get off these damn steroids which have caused osteoporosis. I'm also taking hydroxychloroquine. Also, my neuro dr said its very common to have autonomic dysfunction with nld sfn, so no need to test for it, it is treated with same treatment I am already receiving.

Jump to this post

@tjstout your story is similar to mine. 12 years of nerve pain. IVIG at first because I was diagnosed with CIDP, but steroids were the miracle drug that calmed the pain. I now have osteoporosis in my spine. Thankfully I have been off steroids and nerves have been calm for 3 years. I deal with numbness, cramps, temperature changes, electric shocks, restless leg syndrome and more, but I try to live a fairly normal life. Sending best to you and all who suffer.

REPLY
Profile picture for nankeee
nankeee | @nankeee | 3 days ago
In reply to @tjstout "I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread..." + (show)
Profile picture for tjstout @tjstout

I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread sporadic neuropathy and face , chest pain. Because symptoms are mostly relieved with prednisone, and because many other symptoms appeared as time went on, neurologist sent me to rheumatology, calling it immune mediated. So far, labs just show ana positive, and positive autoantibodies for both thyroid labs. They are calling me neuro lupus and will recheck labs in 4 months. I have been on ivig for over a year, and added Rituximab to try and get off these damn steroids which have caused osteoporosis. I'm also taking hydroxychloroquine. Also, my neuro dr said its very common to have autonomic dysfunction with nld sfn, so no need to test for it, it is treated with same treatment I am already receiving.

Jump to this post

@tjstout https://practicalneurology.com/diseases-diagnoses/headache-pain/small-fiber-neuropathy/31811/

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Profile picture for seniormed
seniormed | @seniormed | 3 days ago

I attributed my dysautonomia symptoms to Psoriatic arthritis but became alarmed when OH developed.
Concerns about Parkinson’s in my family prompted
having SynOne skin testing all negative. Inflammation
and rheumatic markers all normal for several years.
I have a high Compass 31 score.
Fortunately self referred to Rochester and after 6 month wait I was placed with the lead doctor of the autonomic neurology group. I had seen university
based movements specialist, cardiologist and rheumatologist in Chicago
but found the best autonomic workup and experts were at Mayo.
My autonomic neuropathy is stable and I work hard on BP control and balance exercises. Bladder is a nuisance. Doing OK on Midodrine.
I have another long wait to get in with a local neurologist interest in
rheumatoid caused neuropathy.
Work up at Mayo was excellent and done within the week. Conclusion is
autonomic problems probably due to chronic PsA systemic inflammation.
Took years to figure out with my mild limited nail scalp psoriasis with
multi site enthesitis.

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Profile picture for lyn1206
lyn1206 | @lyn1206 | 2 days ago
In reply to @tjstout "I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread..." + (show)
Profile picture for tjstout @tjstout

I also was diagnosed nld sfn from leg biopsy. Symptoms started 4 years ago with widespread sporadic neuropathy and face , chest pain. Because symptoms are mostly relieved with prednisone, and because many other symptoms appeared as time went on, neurologist sent me to rheumatology, calling it immune mediated. So far, labs just show ana positive, and positive autoantibodies for both thyroid labs. They are calling me neuro lupus and will recheck labs in 4 months. I have been on ivig for over a year, and added Rituximab to try and get off these damn steroids which have caused osteoporosis. I'm also taking hydroxychloroquine. Also, my neuro dr said its very common to have autonomic dysfunction with nld sfn, so no need to test for it, it is treated with same treatment I am already receiving.

Jump to this post

I recently found out what my neuropathy is coming from. I have just been diagnosed with Sjorgens disease and I am seronegative so it didn’t show up in my blood. I have had it for years and recently my new rheumatologist put it all together. The neuropathy is Stage 2 of Sjogrens. I also have extreme dry eyes and mouth . Nerves are damaged in my eyes. Everything is being treated separately so have to see 4 specialists.

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