A TREATABLE CAUSE TOO IMPORTANT TO MISS

[bombsh3ll]

This is for everyone whose cause of orthostatic intolerance/POTS is as yet unexplained, particularly if it was of sudden onset, associated with upright head/neck pain & nausea, and typical treatment for POTS has had no or minimal effect. Please also continue reading if you have or suspect a hereditary connective tissue disorder - these are present since birth, yet OI is not. You may have simply been told "people with EDS get POTS" with no explanation as to a possible mechanism, & worse, no further effort made to search for one. Perhaps you have read or been told that EDS patients have "stretchy veins", but wonder why the exact same veins the day before it started were not so stretchy you suddenly couldn't stand up, or why, if that is the problem, compression stockings have made no difference.

It is also for everyone who has ever checked their vitals & found them to be completely normal, yet still feels awful upright.

Yesterday, after five years of searching & racking my brains as to why, having been fit and healthy all my life, at the age of 34 a forceful Valsalva left me instantly unable to be upright without feeling like I am dying, I was diagnosed with intracranial hypotension (spinal CSF leak). I now have a long fight ahead of me for NHS funding for the recommended treatment for this, in my case a series of non-targeted high volume epidural blood patches, and treatment is not effective in every case, but the bottom line is there is a treatment. 

This is not a misdiagnosis of POTS as such, as I do technically meet the diagnostic criteria for POTS, rather it is a missed diagnosis of an underlying cause of secondary POTS.

Valsalvas are not the only cause of a tear in the dura (the lining surrounding the brain, spinal cord and spinal fluid), although one has to wonder how many people with "viral onset" did not as postulated become "deconditioned" or develop rogue autoantibodies, but whilst unwell had a violent bout of coughing, sneezing or vomiting which may have put a rent in the dura; spinal CSF leaks can be caused by a minor trauma such as a fall, whiplash, concussion, car accident, lifting a heavy bag, a sudden twist or collision playing sports & many others. 2/3 of people with a spinal fluid leak do not recall a specific inciting event. Spontaneous leaks are more common in people with connective tissue disorders whose dura is thinner and weaker to begin with. Iatrogenic leaks can also occur for example after a spinal tap, or if the dura is accidentally punctured during an epidural anaesthetic (postpartum onset anyone?), however these are more likely to be diagnosed promptly. 

Obviously POTS is not a disease, simply a description of feeling very unwell upright & having an increased heart rate standing (also found to be universal in one study of CSF leak patients), so this will not be applicable to everyone, but is a recognized cause of this exact symptom complex, & has a treatment, so is too important not to consider if only to rule out. It is not widely known even among medical professionals, so do not assume your doctor has considered & discounted it (or even heard of it). 

The following resources are what helped me discover this diagnosis after five years of being harmed by inappropriate medication and unnecessary investigations (such as the endoscopy for intractable nausea - which completely abates supine unlike any gastrointestinal condition causing nausea), and being sent away to spend the rest of my life supine, syncopal & suffering: 

CSF leaks - what the POTS community should know, by Dr Ian Carroll on vimeo

vimeo(dot)com/243145060 Dr Laurence Kinsella talks about POTS, headache & CSF leak

https://journals.sagepub.com/doi/full/10.1177/2515816318773774

https://www.ncbi.nlm.nih.gov/pubmed/31118385

https://www.csfleak.info/ 

https://spinalcsfleak.org/

There is also a 2003 study by Mokri et al https://www.researchgate.net/publication/9051563_Orthostatic_headache_without_CSF_leak_in_postural_tachycardia_syndrome, which has probably contributed to the failure to suspect/investigate CSF leak in POTS patients, however this study included a whopping FOUR patients, of whom 3 cases had no spine MRI, 2 cases had no CT myelogram, none had digital subtraction myelogram, & 2 had documented temporary benefit from epidural blood patching.

If this information helps just one other person, I want it to be out there & easier to find than it was for me. 

B xxx

 

 

 

 

 

 

[bombsh3ll]

Spinal CSF Leaks have a troubling similarity to POTS –  adapted from Ian Carroll’s 2017 presentation.

CSF Leak                                                                                              POTS

• Feel worse when upright                                                          • Feel worse when upright

• Headache is prominent                                                             • Headache is prominent

• Lightheadedness/dizziness                                                      • Lightheadedness/dizziness     

• Nausea/vomiting                                                                      • Nausea/vomiting                        

• Brain fog/cognitive impairment                                               • Brain fog/cognitive impairment

• Increased risk of suicide                                                           • Increased risk of suicide

• Predominantly female reproductive age                                  • Predominantly female peak onset 30-40s but can affect any age

• Associated w connective tissue disorders                                • Associated w connective tissue disorders

• Understood                                                                              • Mysterious

• Treatment can be effective                                                      • Treatment: “learning to cope”

[jklass44]

@bombsh3ll I’ll be honest, right now I’m lacking all energy to reply to this properly, but I just wanted to say YES FINALLY!! I know you’ve been searching for so long and I’m glad you finally have some answers - and that it’s treatable!! I sincerely hope the funding comes through for you. Please keep us updated!! xx

[JimL]

Not surprising at all. I had spine surgery 7 weeks before pots and have had 3 fusion surgeries since 2012. The pots surfaced about 7 weeks after my lumbar fusion where I had a CSF leak during surgery that they fixed. It was alleged that a bone spur caused it. I think it was iatrogenic. 

[lieze]

I am so happy for you that you found an answer to your problem. I hope you do not have to wait long and that whatever type of fix they come up with for you helps you. 

[p8d]

I am so happy for you!  It’s unfortunate that you had to go through 5 years of h*ll to get to this realization.  Can you please tell us what tests you had that lead to this diagnosis? Thanks.

[bombsh3ll]

21 hours ago, jklass44 said:

YES FINALLY!! I know you’ve been searching for so long and I’m glad you finally have some answers - and that it’s treatable!! I sincerely hope the funding comes through for you. Please keep us updated!! xx

Thanks, I definitely will do! I remember you posting about headache a while back - wasn't it you who was going to ask Dr Raj about the splitting orthostatic headaches? - could this be something to look into for you too?

21 hours ago, JimL said:

The pots surfaced about 7 weeks after my lumbar fusion where I had a CSF leak

That can't be a coincidence! But you continue to have symptoms after the leak was fixed?

20 hours ago, lieze said:

I hope you do not have to wait long and that whatever type of fix they come up with for you helps you. 

Thanks lieze, I really hope things start to pick up for you also!

B xxx

[bombsh3ll]

19 hours ago, p8d said:

Can you please tell us what tests you had that lead to this diagnosis?

What really clued me into CSF leaks was watching Dr Carroll's video within the past year & for the first time finding something that can be caused by a forceful Valsalva (my mode of onset), that causes these exact symptoms. 

Before then I had systematically worked my way through testing for all listed causes of POTS/OI, such as autoimmune, lyme, addisons etc which were all negative, but there was nothing on there that could be caused by a Valsalva. 

Once I learned that there actually was a recognized condition with these symptoms that valsalvas are known to cause, & that EDS which I have also been diagnosed with is a risk factor, I was pretty sure I was on the right track. EDS was one of the "secondary causes" listed which let to me seeing a geneticist, having features of it in myself & my family, but to me EDS alone cannot "cause" POTS as people are born with EDS & POTS is not congenital, EDS simply increases predisposition to actual secondary causes such as CSF leaks, craniocervical instability & chiari etc. 

I then printed off material from the CSF leak association website, highlighted the relevant symptoms, valsalva being listed as a cause, plus the connective tissue disorder, & asked to be referred to a neurologist that I knew had at least heard of CSF leaks. 

He ordered a MRI brain and whole spine with gadolinium contrast, supine. 

That was reported as negative by the NHS hospital & I was discharged yet again with no further investigation or treatment.  The negative result really surprised me as my onset & symptoms were so classic, however I moved on to explore my next differential, craniocervical instability. 

I sent the same supine brain & spine MRI scan on a disc, plus a couple of upright MRIs to Dr P Bolognese (neurosurgeon) in New York who offers a remote radiological evaluation service for craniocervical instability. I had not disclosed my suspicion of CSF leak to him or that my illness was valsalva induced, and was just expecting either positive or negative for craniocervical instability. 

So I was blown away when he wrote back that I had no apparent instability but thought I had, guess what, a CSF leak! 

And he should know, because he causes them. Not by doing anything bad, but when you operate on the spines of EDS patients, a few duras get pierced. 

That was it for me, I found a UK specialist in CSF leaks & went private to get a diagnosis. He agreed my presentation was absolutely classic & should have been picked up 5 years ago when it first happened. 

It is a long journey still ahead with no guarantees, but finally I feel I am on the right track with a credible mechanism for how my illness was caused by the forceful valsalva.

B xxx

 

[Random-Symptom Man]

That is great @bombsh3ll. And a helpful lesson to the rest of us. Persistence! 

[bombsh3ll]

13 minutes ago, Random-Symptom Man said:

Persistence! 

Absolutely! I believe 100% that identification of orthostatic intolerance should represent the beginning, not the end, of the diagnostic journey. 

Sending someone away with a diagnosis of "POTS" is like sending someone away with a diagnosis of "breathlessness". 

It is a symptom, not a disease. Something is always causing it, & a condition is only ever idiopathic when all known causes have been looked for. 

B xxx

[DizzyPopcorn]

2 hours ago, bombsh3ll said:

 

It is a symptom, not a disease. Something is always causing it, & a condition is only ever idiopathic when all known causes have been looked for. 

B xxx

Nicely said

[dancer65]

Really pleased you have at last found some answers I hope all goes well for you from now on ! 

[bombsh3ll]

@dancer65 thanks  

I still have a long way to go in terms of NHS process to get funding for the treatment, we are considering paying privately for at least the first blood patch as it could take up to a year to even get on the NHS waiting list if I am successful in applying for out of area funding, however I am grateful to finally receive an explanation & answer as to how a forceful valsalva could instantly destroy a perfectly happy, healthy life like that, rather than being disbelieved & treated like I had a mental disorder each time I explained that I had been completely well until I tried to blow up a water bomb, & unable to be upright since, just because nobody could explain it & every test kept coming back normal!

#orthostaticnotpsychosomatic

B xxx

[dancer65]

I feel for you trying to get out of area funding it’s so hard to fight when you are not well ! It’s exhausting I always find you never have the right phone number and get passed around departments ! 

I know someone who had a cfs leak I think she was treated in Birmingham she is back to work as a carer for a disabled client .

I just hope you get this sorted ASAP ! 

[bombsh3ll]

Thanks! I am so pleased your friend was successfully treated. I think diagnosis is the main barrier to treatment - the mean time from onset to diagnosis is 13 months, without counting all those who are never diagnosed at all, then after that is access to somebody experienced in patching for this indication. 

B xxx

[DizzyPopcorn]

15 hours ago, bombsh3ll said:

Thanks! I am so pleased your friend was successfully treated. I think diagnosis is the main barrier to treatment - the mean time from onset to diagnosis is 13 months, without counting all those who are never diagnosed at all, then after that is access to somebody experienced in patching for this indication. 

B xxx

Who has the knowledge to patch such issue, if you don't mind me asking? 

[bombsh3ll]

4 hours ago, DizzyPopcorn said:

Who has the knowledge to patch such issue, if you don't mind me asking? 

Epidural blood patching is usually done by a neuroradiologist or anaesthetist.

B xxx

[Scout]

I'm so happy for you @bombsh3ll! So wonderful that you found a cause.

Do you mind me asking how you were diagnosed officially? The tests etc? 

Also, very sorry if that was mentioned above and I missed it. Very brain foggy today.

 

[edriscoll]

On 9/30/2019 at 11:22 AM, bombsh3ll said:

Absolutely! I believe 100% that identification of orthostatic intolerance should represent the beginning, not the end, of the diagnostic journey. 

Sending someone away with a diagnosis of "POTS" is like sending someone away with a diagnosis of "breathlessness". 

It is a symptom, not a disease. Something is always causing it, & a condition is only ever idiopathic when all known causes have been looked for. 

B xxx

There is not always an underlying cause for POTS.  It can also be the end result after the body being stressed by illness (such as flu or virus), trauma and surgery.  To suggest that there is always an underlying cause or condition that is ongoing in addition to POTS is not correct.  

[Pistol]

Yes, I totally agree with @edriscoll. Some times a cause can be found and maybe even corrected but in many people there is no treatable - or even recognizable - cause. In my case there are three generations of women with hyperadrenergic POTS but no underlying cause. We are all completely healthy individuals with a severe ANS malfunction. I personally do not waste my time trying to determine the cause, I try to find ways to deal with my symptoms. However - if there is reason to believe that a treatable condition might cause the Dysautonomia I would be relentless in finding it. 

[CarolS]

Congratulations @bombsh3ll! What a relief to know there is treatment out there and to finally know what you're treating. Keep at it. The NHS should be for everyone, not just people with the "right" illnesses.

My daughter's acute phase of ME and POTS started after a weekend wind orchestra residential where she played clarinet for hours and hours. She was already under the weather with an upper respiratory infection, had her period and then subjected herself to what is essentially hours and hours of valsalva. I've been wondering for a while if this might have caused a leak, but then she hasn't had any nausea or any GI symptoms and traditional POTS treatment (Ivabradine in her case) has made a big difference. CSF leaks do self repair sometimes and my daughter has had vast improvement over the last 4 months. Another reason I wonder about this. She's 17 and I imagine self healing is much more likely at that age than it might be for older patients. 

Wishing you very good luck going forwards.xx

[Scout]

Very much so agree @Pistol @edriscoll. For some, there is a secondary cause, and I am so pleased for them when they can treat that!

But for a lot of us, Dysautonomia is a stand alone illness. It can exist on its own. 

 

 

[bombsh3ll]

On 10/3/2019 at 11:57 AM, Scout said:

Do you mind me asking how you were diagnosed officially? The tests etc? 

I had a MRI whole brain and spine with contrast, which was initially read as normal here then identified as suggestive of a CSF leak by a US neurosurgeon, then I consulted a UK expert in CSF leaks. Further tests such as myelogram can be done but will be only be done in my case if I do not respond to the initial treatment of 3 blood patches. 

I do not mean to suggest that everyone should be on an endless quest for a treatable cause once all known or suspected currently diagnosable conditions have been reasonably eliminated, as some cases at the present time will remain unexplained by the science available to us today, ie idiopathic, however if a person is born completely healthy and functioning normally, & subsequently becomes disabled, there IS always a reason, even if we are not currently able to identify it, just like other conditions were mysterious before the advent of MRI scans or specific lab tests.

Researchers continue to actively look for things that can cause orthostatic symptoms, such as autoantibodies. 

Additionally some causes, for example genetic abnormalities, may become identifiable before a specific treatment exists for that type. 

My message is simply that when a person presents with symptoms, all known conditions potentially causing that clinical picture should be eliminated before declaring it idiopathic & untreatable. 

I just wanted to present my own diagnosis as one example, particularly as I am quickly finding within CSF leak groups a prior POTS label is not uncommon. It is very easy to see how one could be confused for the other, with orthostatic heart rate testing not differentiating between the two, so there will potentially be other people reading this forum who would benefit from looking into this diagnosis.

B xxx

 

[bombsh3ll]

22 hours ago, CarolS said:

CSF leaks do self repair sometimes and my daughter has had vast improvement over the last 4 months.

That's great to hear! It would certainly explain some cases of spontaneous remissions. I personally have never experienced remission other than for 24 hours after a long flight, twice. I recently found a medical paper on disorders of intracranial pressure reporting high altitude to be associated with improvement of intracranial hypotension. I think that probably relates to transient increased CSF production though rather than actual sealing. 

I hope your daughter continues to do well.

B xxx

[CarolS]

18 hours ago, bombsh3ll said:

I personally have never experienced remission other than for 24 hours after a long flight, twice. I

I wonder if you've been able to give yourself any very prolonged periods of rest. I took my daughter out of school for a year and she spent most of that time in bed. If there was any chance of spontaneous healing I would think rest would be absolutely essential. Having said that, there's a huge chance that she never had a CSF leak. Like you, we're in the UK, so testing is something you have to beg for and I decided to go in different directions. I think her clarinet is going to stay packed away indefinitely, though!