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Patient Advocacy Spotlight - The Tarlov Cyst Disease Foundation

SEPTEMBER 23, 2014
James Radke

Tarlov cysts (TCs), or Tarlov/perineural cysts, are a rare spinal nerve pathology in which dilations of the nerve root sheath and abnormal sacs of cerebrospinal fluid (CSF) can cause a progressively painful radiculopathy and numerous other multi-systems issues. They occur most prevalently in the sacrum, just below the lumbar spine, but can occur in any sections of the spine.
 
The Tarlov Cyst Disease Foundation (TCDF) is a non-profit 501 (c)(3) organization that provides patient advocacy, promotes and funds research and works to improve education about this rare and very painful condition.  Recently, we conducted an interview with Reta Honey Hiers RNC, President and Executive Director of TCDF.

RDR: Why does it take so long to diagnose TCs?

Ms Hiers: Persons with TCs tend to have a variety of multi-system symptoms that are dependent on the location of the spine where the cysts are located. Patients are referred typically from one physician to another for years, depending on their most prevalent symptoms. Since most physicians were not taught about TCs in medical school and have not seen them in their clinical practice, many patients with TC can go years before being diagnosed – and some may never be properly diagnosed.
 
Since most TCs are prevalent in the sacrum and since most physicians were not taught about them in medical school nor have not seen them in their clinical practice, clinicians are not looking for TCs. Compounding the problem, most physicians worldwide would order a Lumbar MRI for a patient experiencing “low back pain” to rule out or confirm lumbar bulging/ruptured discs. As such, the sacrum would not be imaged. This delay in diagnosis often causes nerve damage, organ dysfunction and years of intractable nerve pain in the low back, buttocks, hips, legs, and feet.
 
Other common symptoms may include paresthesias (strange sensations) which include numbness, burning, tingling in those areas, as well as pelvic pain, external genitalia and rectal pain and sexual dysfunction.

How common is TC?

There is no current accurate data on the incidence of Tarlov/perineural cysts. Our Foundation is working to develop an international patient registry.
 
Only one previous report, with flawed data, indicated that in a randomized review of only 500 MRIs, they estimated 5% of patients had TCs of which only 5 patients (1%) were symptomatic. However, the MRIs were lumbar, and since most cysts are prevalent in the sacral spine, they would not have been imaged. Another concern is that radiologists often do not report cysts when they are imaged. When the patients were contacted whose MRI imaged Tarlov/perineural cysts, it was unclear/not divulged in the article as to what questions the patients were asked, especially regarding their symptoms, so their determination of 1% as “symptomatic” was likely flawed data, since the reviewer was likely not someone with expertise in the multi-systems symptoms of Tarlov/perineural cysts.
 
While the number of patients with TCs remains unknown, over the past seven years, our Foundation has been contacted by approximately 15,000 patients, from more than 100 countries on six continents.

Why do some doctors believe TCs are asymptomatic?

There is the misconception that TCs never cause symptoms and as a result, clinicians seeing a person in pain may spend years looking for a more common explanation.  This can cause long delays and years of suffering looking for someone who is knowledgeable about the diagnosis.
 
The misinformation that TCs are always asymptomatic actually goes back to the doctor the condition is named after.  Isadore M. Tarlov, M.D. first discovered perineural cysts in 1938 in cadavers and wrote the first cited publication about this pathology. He stated that the cysts were asymptomatic, although, since the patients were deceased, there was no opportunity to discuss any previous symptoms they might have lived with during their lifetime. Much of the older medical literature and literature reviews continue to perpetuate the myth that this pathology is asymptomatic.

What are some of the more common symptoms that would lead a doctor to suspect TC?

Since the international medical community is uneducated about this diagnosis, they would rarely, if ever, suspect this diagnosis. Tarlov cysts are a rare spinal nerve pathology occurring most prevalently in the sacral spine, and when patients present with “low back pain”, they always suspect a disc issue at L4-L5, which is the most prevalent diagnosis of that symptom. Therefore, in almost 100% of cases, the physician would order a “Lumbar” MRI to prove their suspected diagnosis of bulging/ruptured discs in the low lumbar spine. The protocol for imaging the Lumbar MRI the physician ordered is to image the T-12, L1-5, and S1 area of the spine. With that order, the entire sacrum S1 through S5 would not be imaged; therefore, if TCs are present, they would not be imaged on a lumbar MRI. Additionally, many radiologists do not report TCs or they may mention them as “an incidental finding of no clinical significance”. Because of this, the average length of time it takes to obtain an accurate diagnosis of TCs is 15-20 years.
 
Other symptoms common to TCs that can delay or confound a proper diagnose include: difficulty sitting, pain in low back/buttocks/legs/feet, pelvic pain, external genitalia pain, bladder and bowel dysfunction, sexual dysfunction, headaches, loss of balance, eye pressure, pain behind the eyes and visual disturbances, tinnitus, paresthesias such as numbness, burning and tingling (nerve pathology symptoms).

How is TC currently treated?

While symptoms management is extremely important and can be handled with the patients’ local physicians, most are not comfortable managing chronic nerve pain and multi-systems symptoms, therefore most patients are referred to numerous specialists, such as neurologists, pain management doctors (anesthesiologists or physiatrists), physical therapists, chiropractors, gynecologists, urologists, gastroenterologists, who may be uneducated and misinformed about TCs.
 
Symptoms management options typically include: pain medications, muscle relaxants (due to muscle spasms), NSAIDs (non-steroidal anti-inflammatory drugs or patches) due to inflammation, TENS (transcutaneous electronic nerve stimulation), heat application, etc.
 
Currently, there are very few physicians worldwide who have expertise in actually treating the TCs.  
 
The two treatment options are:
1) Surgical treatment, which is performed by a very small number of neurosurgeons worldwide. Currently, there are only three neurosurgeons in the U.S. who have considerable experience and expertise in the surgical treatment of TCs and who treat in significant numbers with good outcomes. The “Find a Dr.” page of the Foundation’s website at www.tarlovcystfoundation.org  provides the physician names and contact information for the neurosurgeons that treat TCs. The actual surgical procedure/technique is a bit too complex to explain briefly here. The TCs cannot be “removed” or excised, because there are nerves inside the cyst wall.
 
2) Aspiration and Fibrin Glue Injection (AFGI), which is performed by an Interventional Neuroradiologist.
 
This procedure is less invasive than surgery, but not every patient is a candidate for the procedure. The premise of the procedure is to aspirate the CSF out of the cyst and in an attempt to seal the neck of the cyst, to inject a fibrin glue product inside the cyst. In most cases, if there is benefit in symptoms reduction, it is considered to be temporary.

What is the Tarlov Cyst Disease Foundation?

The TCDF is a 501(c)(3) non- profit organization established to provide information and resources for TC patients and physicians. Our major goals are patient advocacy, promotion and funding for TC research, and improving education in the medical community and the public.
 
TCDF began in 2000 and was was incorporated in July 2006 and approved by the IRS as a 501(c)(3)non-profit organization in September 2007. It was registered with the Division of Charitable Solicitations and Gaming that same year. The Foundation’s website went online in September 2007, and our efforts in patient advocacy, fundraising for TC research, and improving education about this diagnosis began. In January 2008, the Foundation provided funding for the first TC research grant; the National Organization for Rare Disorders (NORD) implemented the research grant for the Foundation. The current Board of Directors is a seven member volunteer board.

What is its mission and objectives?

Our Mission
The Tarlov Cyst Disease Foundation is a volunteer-based, 501(c) (3) non-profit foundation dedicated to the research, improved diagnosis and development of successful treatments and outcomes for symptomatic Tarlov cysts.
The Foundation is incorporated exclusively for scientific, educational, and charitable purposes that will seek to improve the level of understanding, diagnosis and treatment of Tarlov cysts.
Our Objectives
The objectives of the Foundation are to:
  • promote and fund research for Tarlov Cyst Disease
  • collaborate with and educate those in the medical field and the general public about Tarlov Cyst Disease internationally
  • provide support and resources to Tarlov cyst patients, their families and friends, physicians, and the public
  • conduct surveys with Tarlov cyst physicians and patients to identify prevalence, determine etiology, and clarify symptomatology as well as share and analyze outcomes of surgery and other treatments of Tarlov cysts
  • publish research results including trends in diagnosis, prognosis, treatments, outcomes and other relevant medical information
  • encourage support and raise funds to promote and accomplish these specific objectives and purposes of the Foundation.

Are there any studies being conducted to improve outcomes in TC patients?

There have not been any clinical studies to date to improve treatment outcomes, although the most experienced neurosurgeon who treats Tarlov cysts follows his patients for two years postoperatively. The reason he follows patients for two years postoperatively with MRIs and patient questionnaires, beginning at three months and ending at two years, is because the nerve healing is a slow process; therefore short- and long-term outcomes must be collected.

At the upcoming NORD Rare Diseases and Orphan Products Breakthrough Summit in October 2014, outcomes data will be presented from the first 200 patients he treated surgically.
 
Note – Rare Disease Report will provide coverage of that poster presentation during the NORD Rare Diseases and Orphan Products Breakthrough Summit (October 21-22, 2014).
 
 
MRI image of TCs courtesy Wikimedia commons.

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