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 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.
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.
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.
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.
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.
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.
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
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 lead Dr. Carroll to think I have a pseudotumor.
The orthostatic symptoms make him suspect I have cerebral spinal fluid leaks.
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.
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.