The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability

*The names of some subjects interviewed for the post have been changed to protect their privacy. These changes are denoted by an asterisk (*).

Chiari Malformation Awareness Ribbon displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.
September is Chiari Awareness Month

In my first post on Chiari malformation, I outlined the standard procedures for the treatment and diagnosis of craniocervical junction disorders, primarily Chiari malformation, though also touching briefly on Craniocervical Instability. I also highlighted a few of the issues with getting a proper diagnosis, due to the improper use of traditional horizontal (supine) imaging techniques as the standard of diagnosis, which is propelled by a lack of knowledge, training and availability, even in some teaching hospitals and medical centers that tout their use of cutting edge technology.

While my focus in this series is on Chiari malformation and craniocervical instability because these are the two most commons forms of craniocervical junction disorders associated with Ehlers-Danlos Syndrome, it’s important to understand that there are many forms of craniocervical junction disorders and that diagnosis and treatment of all of these conditions are problematic. At times, I will discuss CJD as a whole, because there is research which impacts them all and I feel they’re all interrelated, as are many of the secondary conditions that tend to develop with CJD.

I do this also in part because, as one researcher noted in the literature I reviewed for this series, there is little consensus on the diagnosis and treatment of these disorders, even their classification. For example, while some experts consider craniocervical instability as part of Chiari type I while others have labeled it Chiari 0 and others insist it is an entirely separate entity and shouldn’t be categorized as a Chiari malformation at all. These discrepancies aside, all of these disorders can exist alone or in unison and whether wholly congenital, caused by illness, injury or hypermobility, every patient with CJD deserves a thorough workup with the use of proper imaging to ensure the most successful procedures possible.

The underdiagnosis and mistreatment of Craniocervical junction disorders are experienced worldwide, in both private and public healthcare systems today. We will explore this phenomenon through the use of two primary sources; a review of current literature available on the subject and direct patient feedback I collected through interviews conducted in writing with people who have been diagnosed with Chiari and craniocervical instability (CCI), also known as Occipitoatlantialaxial Hypermobility.

While I am happy to be able to share a few success stories, my review was rather disheartening. Information on the subject of the proper treatment and management of craniocervical junction disorders is readily available, yet it is not being utilized by the people making decisions about the processes and procedures necessary to come to or rule out a diagnosis of a craniocervical junction disorder (CJD), let alone how to treat it with precision for better surgical outcomes for patients, with the exception of a select few “Chiari experts” worldwide. These doctors are few and far between and are often difficult for patients to connect with due to issues of location, socio-economic status (including insurance coverage, if any is even accepted by these doctors).

Poor Training and Availability of Testing Persist in the World’s Richest Countries, Regardless of the Healthcare System’s Structure

The best information I found was out of India, where the prevalence of CJD is higher than anywhere else. Given the range of techniques performed to gain accurate measurements based on positioning (the use of Upright [functional] MRI, flexion and extension positioning in MR imaging) and investigation of CSF flow and movement through the use of dynamic cine MRI, one must ask themselves if perhaps the higher number in cases in India can be partially accounted for by their use of advanced techniques. They have taken the time to carefully investigate the most useful and varied methods of diagnosis, therefore uncovering the actual variety of these disorders that do not show up with the supine positioning of the patient in traditional MRI.

In many cases, available options for patients in publicly funded healthcare settings are even worse than those living in countries with privatized healthcare, where patients with rare disease requiring specialized care are often left to fend for themselves. Privatized healthcare systems can’t attract top experts and are unwilling to pay premium pricing to help what they consider to be a small portion of the population. In Canada and the UK both, patients are forced to seek care in foreign countries, as their own privatized healthcare systems refuse to diagnose these conditions or honor cross-border diagnoses.

Take for example, the case of Marjorie*, a UK resident aged 21. Marjorie had to go to France for evaluation and diagnosis of her symptoms. When the doctor diagnosed her with CCI, she felt utterly triumphant, but the realization that she couldn’t get treatment for her condition, a much needed spinal fusion, in the UK. In order to be treated, Marjorie and her parents have been forced to turn to fundraising, so they can return to France for the needed operation. The price tag for her surgery is estimated to be $60-80K.

While in the US, Gina* aged 38, traveled from Kansas City, MO to a doctor in Florida for diagnosis and treatment of her Chiari Malformation and craniocervical instability, a process which took her over 5 years to complete because she had to crowd source donations to meet the cost of treatment, as well. Even after everything Gina went through to achieve treatment, she continues to live with the same debilitating symptoms as before; her surgery a complete failure.   

While these problems have differing sources, it’s the same for patients in both settings; the rarer the condition, the more expensive the doctors and treatments. Both situations leave treatment attainable only to those who can afford travel expenses and exorbitant charges for their healthcare needs.

Poor Surgical Outcomes Due to Inadequate Testing

A comprehensive investigation on why many patients with CCI, Chiari Malformation and other CJDs are being left with no where to turn.

Even when you do luck out enough to gain access to medical intervention, these surgeries are only successful for some. In the course of my research, I came to understand this was largely due to the outdated use of imaging techniques which provides a lack of clarity in both the severity and variety of issues faced in this population. It is my feeling that many patients are undergoing these surgeries without successful outcomes because surgeon are effectively going in blind, or with only a partial view and understanding of the full problem. Because of this, many patients are no better off post-operatively than they were before or experience only mild improvements.

Atul Goel, department head of neurosurgery at K.E.M. Hospital and Seth G.S. Medical College in Mumbai states

The treatment of basilar invagination [a form of craniocervical junction disorder in which a vertebra at the top of the spine moves up and back, toward the base of the skull (3)] must be based on the understanding of its pathogenesis. As complications related to an inappropriate treatment can be devastating in nature, exact anatomical and biomechanical evaluation and precise surgical treatment is mandatory in these patients.

(1)

How does Goel recommend this investigation take place for basilar invagination and other conditions within CJD? Through the extensive use of modern day MR imaging techniques, including those mentioned earlier, dynamic MRI, upright (functional) MRI, and MRIs performed in the flexion and extension positions. In addition to MRI, Goel recommends the use of CT (over that of x-ray) to get accurate measurements of the size and bony features and protrusions of the neck, foramen magnum and posterior fossa, which could further complicate treatment or need to be addressed through the use of additional surgical techniques.

His argument that the origin of CJD is necessary to treatment plans are best explained in his own words:

In our recent study, we identified patients in whom there was ‘vertical mobile and reducible’, wherein there was basilar invagination when the neck was flexed, and the alignment was normal when the head was in extended position. Although such mobility is only rarely identified, it does indicate the need for dynamic flexion-extension studies to preoperatively assess the craniovertebral instability. In Group B the alignment of the odontoid process with the anterior arch of the atlas and with the inferior aspect of the clivus remains normal and there is no instability in these patients.

Majority of patients (58%) with Group A basilar invagination had a history of minor to major head injury prior to the onset of the symptoms. The pyramidal symptoms formed a dominant component. Kinesthetic sensations were affected in 55% of patients. Spinothalamic dysfunction was less frequent (36%). Neck pain was a major presenting symptom in 77% of patients. Torticollis was present in 41% of patients. The analysis of radiological and clinical features suggests that the symptoms and signs were a result of brainstem compression by the odontoid process.

(1)

This view is quite a bit different from doctors in the US who often seem to believe Chiari and similar malformations of the foramen magnum are always congenital in nature. It could also explain why some surgeries are much more successful than others.

Traditional MRI may be the least helpful type in diagnosing CJD, while uprightand dynamic MRIs are the preferred methods of imaging among top experts.

In “Image Based Planning for Spine Surgery,” Elsig and Kaech note

“The planning of decompressive and reconstructive spine surgery is based on clinical findings and diagnostic imaging. The evaluation of segmental instability, but also of the risk of destabilization following a needed decompression of the spinal canal and/or neural foramina make complex spine surgery a challenge, bearing in mind the risk of failures in case of an inadequate operation. The insufficient correlation between imaging and clinical symptoms originating from the spine and its nerve roots has been frustrating for some decades.”

(2)

They list several of the same problems with relying on traditional horizontal MRI and note the need for the use of the same modern imaging techniques to ensure successful outcomes for more patients overall. Problems which are only present in load bearing positions can easily be hidden in a patient laying on their back (2). Positioning can have dramatic outcomes on diagnosis.

Another study by Elsig and Kaech notes some of the differences seen in patients in the horizontal position versus dynamic upright MRI throughout the spine, noting an increase in positive outcomes for surgeons who have this information prior to intervention:

A Postion-dependent appearance or increase of posterior disc protrusions, a varying degree of central canal and foraminal stenosis, and of mobile spinal instability was demonstrated in cases with preceding less remarkable or even negative recumbent MRI examinations.

A Type I Chiari Malformation, with positional increase of cerebellar tonsils downward herniation and brainstem compression was identified in a patient studied for a c5/6 degenerative disc disease. At this level an increased disc protrusion and segmental kyphosis was seen during upright imaging.

(4)

Other Issues Barring Positive Outcomes for CJD

Of course the failure to thrive post-operatively can’t always be blamed on outdated imaging or surgical techniques. In the case of Chiari I, researchers found “that abnormal changes in the DTI metrics in patients with Chiari I malformation indicate microstructural abnormalities in different brain regions that may be associated with neurocognitive abnormalities (5).” In other words, in some cases, Chiari 1 malformation may drive the development of microstructural abnormalities throughout the brain that could be affecting patient symptoms.

Dr. Pellay notes in another study that “the presence of syringomyelia implies a less favorable response to surgical intervention,” with only 9 of 20 syringomyelia patients seeing significant post operative improvements versus 13 out of 15 patients without syrinogomyelia seeing significant improvement (6).

According to research, age can also have an effect on outcomes, which also seemed to hold true in my interviews. In the case of Graeson, whose Chiari I malformation wasn’t addressed until age 2 and a half due to one surgeon deciding his problems weren’t pronounced enough despite his CSF flow being completely blocked. Once the surgery was completed after his mother, Angela sought a second opinion. For Graeson, the outcome was good despite the delay. Now a year older, Graeson’s speech and swallowing problems have all disappeared. Angela’s advice to other mothers and patient who suspect chiari is to keep pushing to find a doctor who is truly knowledgeable of the condition.

Unfortunately, not all young Chiari patients see the same results. In the case of Tom*, a young man with chiari in the US, developed a CSF leak after his decompression surgery and contracted meningitis during a lumbar puncture. He must now undergo spinal taps every 6 months to relieve ongoing intracranial hypertension. A year after surgery, Tom describes a surreal feeling, as if waking from a fuzzy dream. His headaches remain and he is under pain management to try to keep them under control.

Conclusions and Further Considerations

Craniocervical Instability Awareness Image displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.

There are many reasons which affect the level of access to the diagnosis and treatment of this condition, from proper training of the doctors doing these procedures, to the processes and standards set forth by the healthcare organization, to standards and regulations which bar the use of non-native diagnosis and testing. In addition, not all of the imaging techniques mentioned are widely available, which can create further barriers.

All of these obstacles to proper treatment affect the lives of people with CJD, from diagnosis to treatment, to overall successful outcomes after treatment. I continue this discussion in the final portion of this series in which I present information about several people with CJD in the United States and UK. That post is now available here: 7 People with Chiari and CCI Share Their Stories

Resources and Related materials

  1. Goel, Atul, et al. “Basilar invagination, Chiari malformation, syringomyelia: A review.” Neurology India.
  2. Elsig, Jean Pierre and Denis Kaech. “Imaging Based Planning for Spine Surgery.” Taylor & Francis Online.
  3. “Basal Invagination.” The Spine Hospital at the Neurological Institute of New York, Columbia Spine.
  4.  Elsig, Jean Pierre and Denis Kaech. “Dynamic Imaging of the Spine with an Open Upright MRI: Present Results and Future Perspectives of FMRI.”
  5. Kumar, Manoj, et al. “Correlation of Diffusion Tensor Imaging Metrics with Neurocognitive Function in Chiari I Malformation.” Science Direct.
  6. Pellay, Prem K, et al. “Symptomatic Chiari Malformation in Adults: A New Classification Based on Magnetic Resonance Imaging with Clinical and Prognostic Significance.” Neurosurgery; Congress of Neurological Surgeons.
  7. Mossman, SS, et al. “Convergence Nystigmus Associated with Arnold-Chiari Malformation.” JAMA Neurology.
  8. Furtado, Sunhil. “Correlation of Functional Outcome and Natural History with Clinicoradiological Factors in Surgically Managed Pediatric Chiari I Malformation.Neurosurgery; Congress of Neurological Surgeons.
  9. All interviews were conducted through internet correspondence from September 5-11, 2019.

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An exploration of the barriers to the diagnosis and treatment of craniocervical junction disorders such as chiari malformation  and craniocervical instability (CCI) for patients worldwide in both public and private healthcare systems in the US, Canada and the UK. Includes a review of current literature on treatment & dx, plus patient interviews in this awareness month investigation.

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