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The Ehlers Danlos Syndromes and Hypermobility Spectrum Disorders are little known in the world at large and to add to the difficulties that causes, those of us with EDS and HSD are more likely to develop a number of additional conditions which can seem even more rare and misunderstood. One of these medical mysteries is Spontaneous Intracranial Hypotension (SIH) also known as a CSF leak (cerebrospinal fluid leak).

CSF leaks can be extremely debilitating and life limiting. There is no escape from the crushing pain and symptoms and many sufferers exist horizontally, unable to be upright for any length of time. Diagnosing and finding spontaneous leaks can be challenging as there are few experts in the world.

It is well known within the EDS community that ligaments, tendons, vascular structures and organs, skin and bones can be weak because of poor collagen in our tissues. However, there is a structure protecting our central nervous system, spinal cord and brain which is also at risk. The Dura Mater. The Dura is a leathery skin surrounding the brain and spinal cord. It holds a liquid called Cerebrospinal Fluid (CSF) which bathes these delicate areas, cushioning them from knocks and bumps and keeps the brain afloat. It also feeds these vital body parts and takes waste away. The dura is made up of quite a few types of collagen, it is a very flexible and elastic structure and is also very strong. It has to flex and stretch as we move and when the dura isn't in tip top condition there is a risk of it tearing or becoming damaged. For most people who spring a CSF leak, it will heal itself in days to weeks. For some it takes months. For those with a connective tissue disorder it can take years, if it heals at all, and they may develop new leaks throughout their life. A leading CSF leak specialist, neurosurgeon Dr Wouter Sheivink (Cedars Sinai, LA) has surgically treated more CSF leaks than anyone else and states that over 99% of spontaneous leaks occur in those with some form of connective tissue problem.

The link between CSF leaks and connective tissue disorders is already recognised by some of the EDS experts we know of and for many sufferers, a CSF leak is the first major presentation of EDS. So far it seems that the most common co morbidity is spinal CSF leaks in those with hEDS. However, as with most ‘other issues’ in EDS, the link is not proven and more research needs to be carried out.

It's important for those of us with EDS and HSD to be aware of the increased risk of damage to the dura, the symptoms to recognise and to know the types of medical procedures to potentially cause trauma in this area. We are less likely to heal well and when a CSF leak becomes chronic, it also becomes more difficult to treat

Some of you may have had lumbar punctures or a spinal anaesthetic and may have experienced a Post Dural Puncture Headache. This is caused by cerebrospinal fluid leaking from the site where the needle went into the dura to take CSF samples or inject anaesthetic.

The best way to avoid problems after these treatments is for the doctor performing the procedure to use a specific type of needle. An atraumatic, pencil tip or non-cutting needle of a small gauge is best. This type of needle will part the fibres of the dura rather than cutting into them. The higher the number of the needle, the smaller it is (a 22 gauge needle is smaller than an 18 gauge).

These procedures are not supposed to pierce the dura and should be performed just outside it. However, we are talking millimetres of difference and mistakes happen. Often after epidural for childbirth there is so much else to attend to, that the symptoms go unnoticed at first. Symptoms can appear weeks after the procedure.

There are many risks associated with cranial and spinal surgery. As with the above procedures, CSF leaks will be mentioned on the medical consent forms but are usually downplayed by medical professionals. Most don't have any experience of leaks becoming chronic and have no idea how debilitating they can be. If a surgeon is aware of cutting the dura by mistake, you may not be told about it because in most cases, a CSF leak is considered to heal itself. As you know, those with connective tissue problems don't heal so well, so that's often not the case with us.

If you have EDS or HSD and are having these procedures, you should make your doctors aware that you may be at increased risk of a CSF leak.

Other causes of CSF leaks include trauma such as car accidents or falls and bone spurs piercing the dura - those of us with hypermobile spines, degenerative disc disease and spondylolisthesis take note.
Intracranial Hypertension and IIH (too much CSF causing increased pressure in the skull due to CSF not draining properly) can cause both cranial and spinal CSF leaks as the increased pressure 'blows a leak', wears down the bones of the skull base or thins the spinal dura. Skull base irregularities can also lead to cranial CSF leaks. Acquired Chiari can occur with spinal CSF leaks - due to a lack of fluid, the brain cannot float and it slumps into the skull base, showing 'brain sag' and tonsillar descent. Once repaired, the brain lifts and is positioned normally.

The most common symptom is a headache which is usually postural. It will come on or get much worse when you sit or stand. It can be severe and frightening. It is usually felt at the back of the head but not always. It is usually felt on both sides of the head. Often there will be other symptoms involved from the list below:

A feeling of pressure within the skull, a sense of your brain being sucked down into your neck, sensitivity to light and noise, nausea and vomiting, tinnitus, blurred vision, vertigo and balance problems, neck pain and stiffness, pain between the shoulder blades, numbness, tingling or weakness in arms or legs, facial pain or numbness, brain fog and memory problems, no ability to concentrate. Sometimes, a chronic spinal CSF leak can mimic POTS or exacerbate symptoms in those who have it.

The biggest clue to diagnosis is that all of the above symptoms usually get better when lying flat.
A spinal CSF leak is usually diagnosed by a neurologist, as the most common first presentation is headache which is worse upon being upright. Due to the clinical terminology 'headache', the pain is usually underestimated by most. Over the years there has been little to no research carried out due to it being seen as a 'headache' syndrome and classed as a benign condition.

Treatment for spinal CSF leaks usually involves strict bed rest, increased hydration and caffeine as the first step. If this fails, an IV caffeine infusion is often tried, though this has shown limited success in most patients. The standard treatment is a Blood Patch, where blood is drawn from your arm and injected into the epidural space, just outside the dura. This is thought to start a healing process causing scar tissue to mend any tears or holes in the dura. It often takes a few patches before relief is found. It seems a simple fix but if the location of the leak is unknown, this procedure is less likely to be a success. Finding spontaneous CSF leaks is a very tricky process.

The most common symptom is seeing or feeling the fluid drip out of the nose or ears. Sometimes it can leak through the eyes. CSF usually leaks from just one side, however it can leak from both left and right sides. Fluid can also drip or run down the back of the throat. It tastes metallic and can cause a sore throat. The fluid will drip faster or sometimes gush out when you bend forward, strain or lie down. Headaches are less common but they do occur. Pulsatile tinnitus is common. With cranial leaks, there is an open route from the outside world into the brain and a real risk of contracting meningitis. It's important to get a diagnosis and repair the leak.

Cranial CSF leaks are often mistaken for allergies and people are sent to an ENT specialist. Testing the fluid which drops or pours out of your nose, ears or throat is a tricky task as it must be handled in a specific way and tested within hours. Do some research and give the protocols to your consultant to enable them to carry out the tests for you

Treatment for cranial leaks depends on where the leak originates. Some repairs to the skull base can be done endoscopically through the nose, other leaks may need a craniotomy, where the skull is opened and the dura repaired inside. These are usually very successful procedures.

Most people who experience CSF Leaks will have either a cranial or a spinal leak. It is not usual to have both, however it is not unheard of.

At present, CSF leaks are similar to EDS in that even the specialists you are seen by don't know much at all about the condition or have little experience treating it. As with EDS, being knowledgeable can make some doctors wary of you and label you as a hypochondriac. It can be frustrating, scary and lonely. However, there is much more information and advice available online than there was as little as 2 years ago. There are a few Facebook support groups and 2 charities set up to inform, educate, raise awareness and support those affected by the condition. The UK charity, The CSF Leak Association has information which you can download and take to your GP and consultants (these have been approved by experienced neurologists in the U.K.) and the charity is there to support anyone affected by CSF leaks.

You can find more information on CSF leaks and Spontaneous Intracranial Hypotension (SIH), symptoms, tests and treatments from The CSF Leak Association www.csfleak.info.