After 8 months of symptoms and a rollercoaster of anxiety and fear, I thought I was improving and coming to terms with what was being diagnosed as BCFS. But a neuromuscular specialist decided to run some final tests on me before his final diagnosis, and this included a wide variety of antibodies. One of the antibodies (Ganglionic Neuronal ACHR) came back highly elevated, while many of the very very worrisome antibodies came back negative. Though I don't fit the profile of cancer, and this antibody isn't associated with cancer in a majority of patients, it has me worried. As bizarre as it is I often found comfort in hearing doctor's say they couldn't find anything wrong with me based on tests, because there was always that hope that it was completely psychological. Having antibodies confirmed makes it all seem more "real".The antibody is sometimes found in patients with Isaacs Syndrome (12%) and Stiff Person Syndrome, but has also been occasionally found in some individuals diagnosed with BCFS. Usually those who have it in those syndromes and conditions report symptoms after a severe viral infection (as was my case). So I'm curious. Have any of you been tested for this antibody and had it come back positive? Or any other antibody for that matter?On another note. Even though I feel extremely depressed and anxious over the finding now... it does also have a plus side. Most patients (75%) show significant improvement through immunosuppresent therapies, and I've found several papers referring to individuals going into spontaneous remission after plasma exchange.
Coming to Terms with BCFS
- Thread starter skenzie
- Start date
as far as I know it is very specific test... when I was high on anxiety, i thought about this test and found that routine labs do not provide it...I feel like you may ask for repetition of the test (if it does not cost as as cast iron bridge (as we are used to say)) and see if it is not an artifact. Immunosuppressive therapy and plasma exchange are not like put a sticky tape on the cut finger, you know 
)) so it is always better to be 100% sure you really need it and that the level of antibodies would not drop down gradually as your immune system would be self-recovering. Anyway wish you good and weighted medical desicions!
)) so it is always better to be 100% sure you really need it and that the level of antibodies would not drop down gradually as your immune system would be self-recovering. Anyway wish you good and weighted medical desicions!Thanks for the replies.@Gracely: Yes. As far as I can tell, this test is only done by two labs in the US. One is Mayo and the other has fallen out of my memory. As for being an artifact I was told false positives for these particular antibody tests cannot exist due to their relatively high threshold value... However I intend to ask whether I can get regular testing (perhaps 6 month intervals) to determine whether the pathological cause of my condition is improving or worsening since symptoms are directly correlated to the level of antibodies present.@mymy16: I'm glad to hear I'm not the only one on this board who has tested positive. I'm sure it was also a very worrisome time for you as well... Do you happen to recall what the antibody level was? And do you have other neurological symptoms such as occasionally burning hands+feet, excessive sweating, ringing in the ears, etc? My neurospecialist is recommending I go to Mayo for a workup, which will include a PET scan. Is this what you had? I'm rather nervous about the entire thing, and am hoping for a scan result like yours. How are your symptoms doing? Have they stabilized?
There are 2 types of ACHR. The nicotinic ACHR is used to detect myathenis gravis. The ganglionic ACHR is used to detect autonomic dysfunction. According to my neurologist the gACHR is highly sensitive and false positives are rare. My paraneoplastic blood series were sent to Mayo for evaluation.
woppyslippy
New member
Hi, i've been following your posts since your symptoms sounded similar to mine (cogwheel like rigidity and fascics). I was wondering what sort of condition this positive test would imply? I have not been tested for it (and it's very unlikely that I could be), but from reading about it it appears to be associated with autonomic dysfunction in some cases. I have twice been diagnosed with POTS (postural orthostatic tachycardia sydrome), a form of dysautonomia.
@TwitchBFS: You can get into Mayo directly without a referral, but it takes time and you'll be working with a head nurse over the phone who will 'triage' you over several calls to determine whether you have a chance to get on their list. However without having a life threatening condition, or without having bizarre test results, the chances of you getting in are slim if you have a primary care doctor/neurologist currently working with you. In my case, my referral was opened due to the positive antibodies for a test/diagnostic procedure Mayo helped pioneer.@Slippy: There is no specific non-syndrome diagnosis the positive test implies... It does however verify you have an autoimmune disorder, and the presence level of the ganglionic antibodies directly correlate to symptom severity in studies. Unfortunately about 30% of those with the antibodies have some underlying malignancy according to one Mayo study of over 15,000 neurology patients. However many also had other red-flag antibodies as well, and that 30% was calculated from individuals who opted into cancer screens using tests such as PET scans... and being those tests deliver a very high level of radiation it's likely many of those that 'opted' in already had risk factors for cancer (smoking, heavy drinking, hazardous environments, etc) otherwise they'd be advised against the heavy hit of radiation. With that being stated, if you do test positive for the antibodies, you'll likely have one or more cancer screens using standard x-rays and physical examinations. If they don't find anything, you'll likely be given immunosuppresent treatment options and/or be sent on your way. If they do find something, by the nature of the antibodies it will likely be in a very early and treatable stage, in which case the neurological symptoms can be completed cured as the malignancy is treated.Slippy what's interesting is that the antibodies are strongly associated with dysautonomia, and in particular POTS which you say you have. I have also been suspected of POTS, as I have sinus tachycardia (my heartbeat is typically about 100) and was diagnosed less than a year prior to my twitching, stiffness, pain, cramping, tremoring, etc. One good thing about you having been diagnosed with POTS is that it generally has a excellent prognosis, with full recovery expected if you obtain it as a young adult.
Skonen - how do we get this test then? I am all about the testing .... and i frequently use an online test service to order my own. But if we physically CANT get this test, how can i answer the question in the first post? LOL ... (thats the most important thing) No really .... what if this answers the questions for some of us ... and I can tell you right now no doctor is going to run it.
The reason the test was given to me was not to look for ACHR ganglionic neuronal antibodies specifically, instead it was taken to search for VGK+ (potassium channel) antibodies... If the potassium channel antibodies come back positive it generally means a diagnosis of neuromytonia (which you can think of as a 'sibling' to BFS, because though annoying, it also will not disable you).If you are truly interested in these tests, you can mention it to your neurologist. The test description is here: . I would however stress that if the neurologist sees the test as unnecessary that you trust his judgement.
woppyslippy
New member
@ SkonenI think, given the sheer amount of testing that I have undergone (bloods, MRI, x-rays for scoliosis etc), I can rule out underlying cancer being present. I did smoke for a brief period two years ago but it was such a low amount (probably less than 100 cigarettes in my life time) that I doubt it affected anything. I barely drink either.My POTS was diagnosed earlier this year. I had been taking beta blockers for anxiety, panic attacks and palpitations. I was on them for about 8 months and got a raft of health issues from them such as poor circulation, chest pain, reynaud's, heart block.. the list goes on. I had a bad episode one night where I felt like I was going to collapse so I was taken off them - I developed the POTS immediately afterwards (and funnily enough also sinusitis). It is suspected that i've always had it to an extent, and perhaps it was just exacerbated when I came off the beta blockers. In any case, I have it under control with a drug called ivabradine, and even when I don't take it it's much better. My resting heart rate on medication is 60bpm, and up to about 80-90 if I don't take it (the dosage is up to me they say). It was the spikes up to 170 that I would sometimes get that they were trying to eliminate with the drug, and they're completely gone now, on or off medication. My rhythm is also classed as sinus tachycardia, although my blood pressure isn't affected much, so it's probably a borderline case of POTS. I am hopeful that this fact and being only 21 improves my chances of recovery over the next few years.As for these antibodies, I doubt I will be able to ask for such a specific test in the UK, but it's useful to know that there is an option out there if my doctor is so inclined.
I'm curious, did you ever have the ACHR neuronal test performed as you planned TwitchBFS? If so I assume they were negative due to the lack of update? Here's an update on my followup since the ACHR ganglionic neuronal antibodies were detected:After the test came back positive I was scheduled for a PET scan and was also in the process of being referred to Mayo by my neurologists. But when it came time to do the PET scan the radiology team decided against it because I've been exposed to so much radiation in the past year (I had over a dozen CT scans while admitted to the hospital in June), and they felt it was unlikely that I had a tumor. Instead they decided to perform a single Chest CT scan with contrasting agent to check for lung cancer...I found out last week that the test results all looked normal. In light of this the neurologist cancelled my referral to Mayo and sent me to a neuroscientist associated with UW, who then performed a battery of tests to check high-level brain functions such as Memory, Reasoning, Comprehension, etc... I received those test results yesterday and they came back well above average.I was told this meant that while the underlying illness was affecting central nervous systems such as sweating, heart rate, eye sight, motor skills, etc... It did not appear to be directly impairing my cognitive abilities. Instead the neuroscientist suggested it was likely due to stress overload from the underlying illness interfering indirectly with execution function. She referred me to a psychologist who specializes in 'illness anxiety'. Meanwhile my neurologist will follow-up with me in January. He has stated he will likely diagnose me with Issac's Syndrome or another to be unnamed syndrome (I won't put the name here because it is associated with both minor and terrible illnesses alike, but in cases such as this, is considered idiopathic). Whatever my illness is, it appears to have some form of improvement followed by relapses. Though the mechanism is unclear, as MS has been almost entirely ruled out. I've had my symptoms for almost 1 year now (~7 months twitching/pain/stiffness/sweating, ~11 months of ringing in the ears)... So I'm fairly optimistic it is not caused by something more sinister, but will continue testing to attempt to identify a cause and potential treatment path.
Here's an update on my followup since the ACHR ganglionic neuronal antibodies were detected:After the test came back positive I was scheduled for a PET scan and was also in the process of being referred to Mayo by my neurologists. But when it came time to do the PET scan the radiology team decided against it because I've been exposed to so much radiation in the past year (I had over a dozen CT scans while admitted to the hospital in June), and they felt it was unlikely that I had a tumor. Instead they decided to perform a single Chest CT scan with contrasting agent to check for lung cancer...I found out last week that the test results all looked normal. In light of this the neurologist cancelled my referral to Mayo and sent me to a neuroscientist associated with UW, who then performed a battery of tests to check high-level brain functions such as Memory, Reasoning, Comprehension, etc... I received those test results yesterday and they came back well above average.I was told this meant that while the underlying illness was affecting central nervous systems such as sweating, heart rate, eye sight, motor skills, etc... It did not appear to be directly impairing my cognitive abilities. Instead the neuroscientist suggested it was likely due to stress overload from the underlying illness interfering indirectly with execution function. She referred me to a psychologist who specializes in 'illness anxiety'. Meanwhile my neurologist will follow-up with me in January. He has stated he will likely diagnose me with Issac's Syndrome or another to be unnamed syndrome (I won't put the name here because it is associated with both minor and terrible illnesses alike, but in cases such as this, is considered idiopathic). Whatever my illness is, it appears to have some form of improvement followed by relapses. Though the mechanism is unclear, as MS has been almost entirely ruled out. I've had my symptoms for almost 1 year now (~7 months twitching/pain/stiffness/sweating, ~11 months of ringing in the ears)... So I'm fairly optimistic it is not caused by something more sinister, but will continue testing to attempt to identify a cause and potential treatment path.