Caroline returns with a not uncommon story of a complicated chronic fatigue syndrome (ME/CFS) diagnosis. From fibromyalgia to Ehlers-Danlos syndromes to postural orthostatic tachycardia syndrome (POTS) to mast cell activation syndrome (MAST) to intracranial hypertension to mold sensitivity (and more), the number of alternate or comorbid diagnoses associated with ME/CFS is growing. Now Caroline brings to our attention a new one – cerebral spinal fluid leaks.
I saw Dr. Ian Carroll, an expert in cerebral spinal fluid (CSF) leaks from Stanford University, for the first time recently. He spent 1.5 hours with me and was very thorough, asking me a series of detailed questions he uses to assess patients for possible CSF leaks (see below). I have ME/CFS and hypermobile Ehler-Danlos Syndrome (hEDS) and was referred to him by my autonomic specialist at Stanford because my orthostatic intolerance (OI) picture is a bit muddy and because hEDS, a connective tissue disease, is a risk factor and can cause aneurysms and spontaneous leaks from the dural sac (the tough outermost membrane of the spinal cord and brain).
Spinal leaks can be caused by an abrupt event, such as whiplash or a spinal tap, or can be spontaneous, which is often the case for people with hEDS. Although abrupt leaks are often spotted by doctors because they cause characteristic orthostatic headaches (headaches that arise or worsen upon standing), spontaneous leaks are often much harder to detect and require a specialist like Dr. Carroll to catch and diagnose because the symptoms, such as fatigue, nausea, and postural orthostatic tachycardia syndrome (POTS), are non-specific and thus overlap with other conditions.
Carroll told me stories of people who spent years suffering with an ME/CFS or POTS diagnosis only to go on to recover with a simple blood patch, a surgical procedure that uses your own blood to close holes in the dura. People with this condition report getting a new lease on life after a successful patch. For this reason, if a leak is suspected, it is worth looking into because, unlike most everything else in ME/CFS, there is a fairly simple and effective fix for it.
Several clues tipped off both my autonomic specialist and Dr. Carroll to the possibility that a cerebral spinal fluid leak could be causing my symptoms:
- Heart Rate Not Greatly Increased During Standing but very symptomatic nonetheless – I have been diagnosed with adrenergic POTS, but don’t experience the big rise in heart rate (HR) like many with ME/CFS do. Yet I experience symptoms as if my HR is much higher – mainly dizziness, nausea, extreme fatigue, sweating and other symptoms that elicit an overwhelming need to sit or lie down. For years I had no shame and would plop down to the ground wherever I was – in line at Target, etc. I finally got a rollator for these instances and now use an electric wheelchair, both of which have helped immensely in managing my orthostatic intolerance. All of this is suggestive of a leak…or POTS.
- Standing worsens migraines – I don’t get orthostatic headaches, but standing does worsen my migraines when I have them, and I have pulsatile tinnitus, another sign of a leak. I had a spinal tap for a C-section and fell ill shortly after.
- Spinal tap – I had a spinal tap for a C-section and fell ill shortly after, but this could be explained by ME/CFS as well (pregnancy is a trigger for many because it lowers immune status)..
- Mother died of brain aneurysm – Also, my mother, who likely had hEDS, died of a subarachnoid brain aneurysm at the age of 53. While this is not the same as a CSF leak, it is indicative of weak connective tissue. I also have bone lesions on my spine, which may be impacting the dura. Amazingly, I’ve never had an MRI done.
Dr. Carroll started by asking me about head pain while I was sitting. I always have head pressure but quite honestly it is the least of my concerns, that is, until I do too much and post-exertional malaise (PEM) kicks in and cranial pressure mounts. PEM is the cardinal symptom that sets ME/CFS apart from all other illnesses and involves a worsening of neurological and immunological symptoms following exertion.
Dr. Carroll had me lie backwards on the examination table leaving my head slightly lower than my heart. That position brought on stabbing pains in the crown of my head and a sensation of mounting pressure. Next, he had me spin around and put my head in the usual position on the table, slightly elevated, and the pressure and pain went away. It returned when I sat up, but not nearly as bad as when my head was slightly lower than my body.
One thing I said seemed to catch Dr. Carroll’s attention: I told him that I’ve always been lucky because I have been able to use my brain for the most part. I spend countless hours in bed and enjoy doing research and writing. Some days this will give me PEM, but most days I can handle it. ((I am moderate to severe and am obviously very different from people on the more severe end of the ME/CFS spectrum who can get PEM from reading, writing, and/or even watching Netflix).
Dr. Carrol said the fact that I can function cognitively when in certain positions, but not others, suggests problems with cranial pressure are present. He seized on this to suggest that perhaps it is not PEM I am experiencing, but a leak. Both PEM and CSF leaks overlap substantially.
Through the looking glass
Many more conditions probably overlap with ME/CFS than most doctors are aware of. Ehlers Danlos Syndrome, intracranial hypertension and spinal fluid leaks are three possibilities that are probably missed by most doctors.
I was first diagnosed with Lyme, another similar illness, but this was a likely misdiagnosis. I was relieved to finally find a medical home with ME/CFS after being sick for 11 years (as much as one can be relieved about having ME/CFS, but having the right diagnosis, whatever its prognosis, is essential for getting the right treatments). ME/CFS is a much better fit for my symptom picture than Lyme because I get PEM quite readily.
Last April, another Stanford neurologist explained to me that he is seeing an increasing number of patients with a suite of symptoms similar to mine – migraines, dysautonomia, GI problems (nausea, lack of appetite, vomiting), and fatigue. These patients, he reported, typically have hEDS.
This was the first time in my 11-year medical career as a patient that a physician brought up hEDS with me. The neurologist’s quick assessment suggested that I might have the condition. During more formal tests by my autonomic specialist last month, he gave me a 9 out of 9 Beighton Score, meaning I am extremely hypermobile. (The guidelines for diagnosing hEDS have recently been revised and underscore some of the other serious complications that can arise from this condition.)
I’ve always noticed that I do best when I’m in bed – not flat, but with one or two pillows to prop me up. Dr. Carroll said that even at this fine scale orthostatic issues can exist in patients with cerebral spinal fluid leaks? Sitting up is far too fatiguing, unless I am reclined substantially and my head and back are supported (which is true of many with ME/CFS and POTS). Standing up is out of the question.
It Is What It Is
When I received my hEDS diagnosis last month some people encouraged me to consider how hEDS, apart from ME/CFS, might be contributing to my illness. Some have even gone as far as to suggest that I and similar patients don’t actually have ME/CFS and that all of my symptoms can be explained away by hEDS, and more recently, spinal leaks. At first I bristled because I have always thought of myself as having fairly straightforward ME/CFS – known onset and trigger (mono), PEM (or so I thought), and the many symptoms so many of us deal with on a daily basis.
In thinking this through more, I’m still convinced that I experience PEM. When I overexert, I experience a burning sensation in my limbs, brain and spine and get horrible brain fog. I may get a slight fever and sore throat – suggesting immune activation has occurred – which is not part of hEDS or spinal leaks to my knowledge. I can also get PEM from emotional or cognitive exertion, which have nothing to do with orthostatic position. Other symptoms during PEM are less clear – worsening of POTS, extreme fatigue, and brain fog. These symptoms could be explained by a spinal leak as well.
I have had to open my mind and consider that many of my symptoms could be explained by hEDS and leaks, while also being open to the idea that all three conditions can occur simultaneously. In this case, the challenge becomes learning how to parse symptoms and determine which condition is giving rise to particular problems. At the end of the day I’m less concerned about labels, and more interested in the truth. On this journey I have been amazed at how dearly people want to hold on to their diagnoses and shoehorn others into theirs. I get that to some extent because each illness has its own culture. My motto these days seems to be, “It is what it is.”
So, what is it? ME/CFS, hEDS, CSF leaks, pseudotumor cerebri? All of the above?
Dr. Carroll’s take is that I’m complex. He thinks I have spontaneous leaks and pseudotumor cerebri. Pseudotumor cerebri refers to a condition of excess CSF in the brain, causing increased cranial pressure. (It is called a pseudotumor because many people present as if they have a brain tumor – yet there is no actual tumor involved). The worsening of my head pain when my head is slightly lower leads Dr. Carroll to think I have a pseudotumor. The orthostatic symptoms make him suspect I have cerebral spinal fluid leaks.
I learned from him that two drugs I’ve been on for the past year to treat a chronic mycoplasma infection – doxycycline and minocycline – can increase cerebral spinal fluid (CSF) and cause pseudotumor cerebri. This creates a conundrum because treatment for the leaks could cause the pseudotumor to worsen by increasing cranial pressure. For now, Dr. Carroll wants me off the minocycline and we will do an MRI to see if leaks are a possibility.
Evaluating leaks, unfortunately, is as much an art as it is a science. A trained eye is required to catch the subtler spontaneous leaks Dr. Carroll believes I am experiencing. Even then, a CT myelogram which involves injecting a dye into the spinal canal fluid might be required. (Because this test itself can cause a leak, doctors are wary about doing it unless they have a very good reason for suspecting a troublesome leak). This type of imaging allows for a closer look at the spinal canal, cord, and nerve roots.
My work up will consist of starting with an MRI and being referred to a headache specialist. Dr. Carroll works with an assessment team, and the first question they will ask him before agreeing to more invasive explorations like a CT myelogram will be “What has she tried for managing her headaches?”’. Dr. Carroll rattled off at least five headache drugs I had never heard of, which surprised him given I’ve been such a head-achy person my whole life, and developed migraines in 2013.
He also wants me to do a 48-hr bed challenge where I lie completely flat on my back (no pillow) for a weekend, getting up only to use the toilet with the aid of my electric wheelchair. If my nausea, head pressure, and fatigue abate, he says this is some compelling evidence for a leak. Personally, I appreciate that he is not rushing in with a myelogram.
A criticism about ME/CFS I sometimes hear from the hEDS community is that of course you are going to feel worse over time if you stay in bed (exercise is one of the most important treatments for people with hEDS). When you do get up, you will feel bad due to deconditioning, or so the argument goes.
I get why my hEDS friends think this, but you don’t have ME/CFS it could be hard to understand the neurological symptoms that extend well beyond orthostatic symptoms. Another version is that all of this could be explained by a CSF leak, and in this case of course you feel better while in bed than when standing up. Again, this is different from PEM in my experience.
Still, I need to keep an open mind. If I have leaks and they can be fixed, I would love to know which of my symptoms would peel way and which would remain. I suspect I would be able to stand for longer periods, but I would still end up back in bed with PEM. Until I know more, I’m going to remain open to all diagnoses, with ME/CFS remaining the top contender for now. Stay tuned.
- Take the Beighton test to see if you might have EDS.
- Losing a Beloved Career to a Chronic Illness: Caroline’s ME/CFS Story – read Caroline’s blog on her wrenching transition from being a conservation biologist to disabled.
Here is a look at the questionnaire (yes/no) Dr. Carroll and his team use to assess patients. It is easy to see why there is so much overlap with ME/CFS!
- Headache worsened within 30 minutes by upright posture?
- Headache improved within 30 minutes of becoming recumbent?
- Headache largely absent upon awakening in the morning?
- Headache worse as the day progresses with prolonged upright activity?
- Headache worsened by dehydration?
- Headache worsened by exertion?
- Occipital area prominent in headache location?
- Head or neck pain worse on bending over?
- Pain worsened by sneezing, coughing, bowel movement or Valsalva?
- Adventitious sound in the head especially the sound of fluid rushing in the back of the head upon going from lying to sitting or sitting to standing?
- Neck pain or stiffness?
Symptoms related to brainstem compromise or cranial nerves:
- Visual blurring
- Double vision
- Facial numbness or pain
- Sense of imbalance
- Hearing changes (phonophobia, muffled hearing, tinnitus)
- Sense of ear fullness– like ears need to be popped
- Altered taste
- Unusual or non-present smells
- Nausea with or without emesis
- Interscapular pain
Subdural fluid collections:
- Subdural hygroma
- Subdural hematomas
Central dural sinus thrombosis
Central nervous system:
- Cognitive dysfunction
Endocrine disorders (due to pituitary stalk traction):
- Hx of elevated prolactin
- Hx of galactorrhea
- Hx of any endocrine disorder
- Hx of hypothyroid
- Hx of any pituitary anomalies
- Headache started with a defined trauma
- Whiplash accident
- Chiropractic care
- Spinal surgery or trauma
- Known osteophyte impinging on spinal dura
- Neck trauma
- Intentional or unintentional dural puncture as in lumbar tap or spinal anesthesia
- Skull trauma (bilateral black eyes, intranasal surgery)
- Transphenoidal surgery
- Well identified time at which head symptoms began or became markedly worse
- Orthostatic lightheadedness
- Orthostatic tachycardia
- Orthostatic syncope
In addition to Stanford, there are a few other doctors in the US who have this level of specialty, including Cedars-Sinai and Duke.
After years of work it’s time to attempt what we’ve never been able to do before – get Congress to force the NIH to double its funding for ME/CFS. Support the historic bill to increase research funding, add new ME/CFS research centers, require the development of a strategic plan, etc.. It will take less than 5 minutes.