Through the looking glass with Dr. Ian Carroll: Cerebral spinal fluid leaks and hEDS as alternate reality to ME/CFS?

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 Sydrome (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 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. He tells stories of people who spent years suffering with a 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 there is a fairly simple and effective fix for it, unlike most else in ME/CFS.

Many clues tipped off my autonomic specialist and Dr. Carroll for possible leaks. 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, Toys R Us, the grocery store, etc. A few years ago, 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. 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. 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.

He 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, until my post-exertional malaise (PEM) kicks in and the cranial pressure mounts, rendering me incomprehensible. PEM is the cardinal symptom that sets ME/CFS apart from all other illness and involves a worsening of neurological and immunological symptoms following exertion. He had me lie backwards on the examination table, which meant that my head was slightly lower than my heart. This 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.

Through the looking glass

There are many conditions that overlap with ME/CFS, namely hEDS and spinal leaks. 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 is essential). 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 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. He did a quick assessment and suggested that I might have the condition. When my autonomic specialist tested me more formally last month, he winced a bit as he watched me do the various contortionist acts that comprise the diagnostic test for hEDS. 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 is also an orthostatic issue even at this fine scale. 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. 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 (whereas some on the more severe end of the ME/CFS spectrum get PEM from reading, writing, and even watching Netflix). He said the fact that I can function cognitively when in certain positions, but not others, suggests problems with cranial pressure. 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.

When I received my hEDS diagnosis last month some people encouraged me to consider how hEDS might be contributing to my illness, apart from ME/CFS. Some have even gone as far to suggest that many, like me, 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 vanilla ME/CFS – known onset and trigger (mono), classic post-exertional malaise (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 am still convinced 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 – all of which speaks to immune activation, which is not part of hEDS or spinal leaks to my knowledge. Might I be mistaking some of these symptoms as being immunological? I don’t think so. I can also get PEM from emotional or cognitive exertion, having nothing to do with orthostatic position. Other symptoms during PEM are less clear – worsening of POTS, extreme fatigue, and brain fog. These are symptoms that 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 opening to the idea that all three conditions could 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 the above?

Dr. Carroll’s take is that I’m complex. He thinks I have spontaneous leaks and pseudotumor cerebri. A pseudotumor cerebri refers to a condition in which there is an excess of CSF in the brain, causing an increase in 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). I learned something very important yesterday – doxycycline and minocycline – two drugs I’ve been on for the past year to treat a chronic mycoplasma infection – can increase cerebral spinal fluid (CSF) and cause pseudotumor cerebri. Because my head pain worsened when my head was slightly lower, Dr. Carroll thinks I have a pseudotumor. But he also thinks I have leaks, because of the orthostatic symptoms I experience. This creates a conundrum because treatment for the leaks could cause the pseudotumor to worsen by increasing cranial pressure. For now, he wants me off the minocycline and we will do an MRI to see if leaks are a possibility.

Evaluating leaks is just as much art as it is science. Most people will miss the subtler spontaneous leaks and require a trained eye. Even then, a CT myelogram might be required. A myelogram involves injecting a dye into the spine canal fluid (yes, another possible cause of a leak, so doctors are wary to do this 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 they will want to know what I’ve tried for headaches. He 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, for which I successfully use the drug Imitrex. I am also to do a 48-hr bed challenge where I lie completely flat on my back (no pillow) for a weekend, getting up only to 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. 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 if they don’t have ME/CFS, they likely don’t understand the neurological symptoms that can arise following over-exertion. 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 have suspect I would be able to stand for longer periods, but I would still end up back in bed with PEM. One would think we would all do well to keep an open mind. Do I have a leak? Too soon to say. Until then, I’m going to remain open to all diagnoses, with ME/CFS remaining the top contender for now. Stay tuned.

Here is a look at the rubric (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 quality

  • 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)
  • Tinnitus
  • Sense of ear fullness– like ears need to be popped
  • Photophobia
  • Altered taste
  • Unusual or non-present smells
  • Nausea with or without emesis

Spinal manifestations

  • Interscapular pain
  • Radiculopathy

Subdural fluid collections

  • Subdural hygroma
  • Subdural hematomas

Central dural sinus thrombosis

Central nervous system

  • Seizures
  • Cognitive dysfunction
  • Tremor

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
  • Amenorrhea

Inciting events:

  • 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

Additional symptoms:

  • Well identified time at which head symptoms began or became markedly worse
  • Orthostatic lightheadedness
  • Orthostatic tachycardia
  • Orthostatic syncope
  • Fatigue

In addition to Stanford, there are a few other doctors in the US who can assess leaks, including ones found at Cedars-Sinai and Duke.

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