When researchers, observers, and hypothesizers begin to make connections, it can become very interesting. I recently came across listings for research studies which involve patients living with one of two disorders: multiple sclerosis and Ehlers-Danlos syndrome.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome (EDS) is the name given to a diverse group of inherited connective tissue disorders involving a genetic defect in collagen. Ehlers-Danlos syndrome, characterized by joint hypermobility, skin extensibility and tissue fragility, can affect the skin, joints, and blood vessels. The prevalence of EDS is estimated to be approximately 1 in 400,000 in the United States, but mild cases may be under diagnosed. In comparison, prevalence of MS is estimated to be approximately 90 in 100,000 in the United States according to the Cleveland Clinic.
There are 11 variants of EDS which have been identified to date, each with differences in genetic, biochemical, and clinical presentation. The specific collagen defect has been identified in only six of 11 variants or types of EDS. Overlap between variants is common and more than one third of persons with EDS do not clearly fit into a single type.
One type of Ehlers-Danlos syndrome, Type IV, is severe and life-threatening due to spontaneous arterial rupture or the perforation of internal organs. Type VI is also dangerous, but very rare. Other types of EDS are usually not as dangerous. Patients can often life a healthy life, even if somewhat restricted.
Is there a connection between EDS and MS?
Not much evidence is available to suggest that MS and EDs are somehow related, but I have one blogger friend who has been diagnosed with both conditions. Just as people find my blog because I have MS and RA (and they are looking for information on both diseases), people searching the internet for information regarding multiple sclerosis and Ehlers-Danlos syndrome will find her blog, Life with MS and EDS.
It is known that EDS has various neurological manifestations, including peripheral neuropathies, muscle weakness, impaired proprioception, and abnormality of gait. More common are the vascular features, such as intracranial aneurysms, subarachnoid hemorrhage (bleeding between the brain and the thin tissues which cover the brain), and spontaneous arterial rupture. Various congenital malformations of the vessels and brain anatomy have been reported.
A study published in 2008 suggests that patients with EDS may be more susceptible to developing MS. (Multiple Sclerosis 2008; 14 : 567 570) Researchers report four MS patients out of 1,892 seen at MS outpatient clinics in Nottingham, UK, were diagnosed with both disorders. Authors quote statistics on the prevalence of EDS in the general population as 1 in 5,000 (which is considerably higher than the stats listed above for the United States alone). Thus, data collected by study authors based on this higher prevalence rate suggest that MS patients are 10 to 11 times more likely to have EDS than the general population. Based on a lower prevalence rate, this increased susceptibility may be even higher.
A retired optometrist in Texas who lives with Ehlers-Danlos syndrome and who has been treated for CCSVI (chronic cerebrospinal venous insufficiency) is recruiting subjects for three approved clinical trials involving EDS and/or MS patients. If you are interested in participating, contact the study director, Diana L Driscoll, O.D. (https://www.prettyill.com) Details regarding two trials are given below, summaries unedited from ClinicalTrials.gov.
TITLE: Head Circumference Growth in Children who Develop Multiple Sclerosis Later in Life (ClinicalTrials.gov identifier: NCT01356134)
DESCRIPTION: Multiple sclerosis patients commonly develop generalized ventricular dilation with or without cerebral atrophy over time. Case studies in the literature have noted some multiple sclerosis patients develop the typical "normal pressure hydrocephalus" triad of dementia, gait disturbance and incontinence which were responsive to shunts.
Many patients with connective tissue disorders (Ehlers-Danlos Syndrome) develop Multiple Sclerosis and studies indicate that in the Multiple Sclerosis population, there exists over 10% more Ehlers-Danlos patients than in the normal population.
Because studies are indicating a form of external communicating hydrocephalus in the Ehlers-Danlos population, the author hypothesizes the same type of hydrocephalus may occur in the Multiple Sclerosis population.
To evaluate this hypothesis, investigators will retroactively evaluate the head circumference of Multiple Sclerosis patients between birth and 15 months (before the skull sutures have closed).
High pressure on the brain (even if subtle) could be evidence of congenital CCSVI (cerebrospinal venous insufficiency), increased cerebrospinal fluid (CSF) production, the poor drainage of cerebral spinal fluid, or a combination of all. Retrospective examination of skull expansion is a necessary step to ascertain these possibilities, allowing for early treatment and the hope of avoidance of the neurological symptoms, and often disabling effects. It is the author’s belief that “Benign External Hydrocephalus” is not a benign condition.
ELIGIBILITY:Diagnosis of multiple sclerosis; excludes diagnosis of clinically isolated syndrome (CIS)
TITLE: Vascular Fundus Changes in Patients with High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI) (ClinicalTrials.gov identifier: NCT01356134)
DESCRIPTION: Chronic Cerebrospinal Venous Insufficiency (CCSVI) has been proposed as the cause of numerous neurodegenerative diseases of the brain. CCSVI is the result of poor drainage of blood (and cerebral spinal fluid to some degree) from weakened or stenosed veins usually located in the cervical area (most notably the internal jugular veins). Although current focus and treatment of CCSVI is on multiple sclerosis, CCSVI has also been implicated as a potential cause of Alzheimer’s disease and Parkinson’s Disease. Additionally, patients with Ehlers-Danlos Syndrome (EDS) – a disorder of connective tissue – are more prone to developing multiple sclerosis than the general population.
Many EDS patients are known to have weakened and abnormal blood vessels and 40-70% of EDS patients develop autonomic dysfunction in addition to numerous other symptoms found in patients with CCSVI. In the small subset of EDS and multiple sclerosis patients seen at Total Eye Care, the investigators have noticed a vascular irregularity (using the optomap® and examining the results under high magnification) which offers credence to the theory of CCSVI. Such objective data has been elusive, excepting for fMRI, ultrasound (to a limited degree) and venous angioplasty results.
Current treatment of CCSVI involves the ballooning and sometimes stenting, of abnormally stenosed veins. The treatment of CCSVI offers hope to many patients suffering from multiple sclerosis. Although CCSVI research is in its infancy, many doctors believe that CCSVI is a significant portion of the solution to patients with neurodegenerative diseases of the brain. Because CCSVI is a vascular disorder, the investigators hypothesize that the investigators are able to screen candidates for CCSVI via the optomap®.
ELIGIBILITY: Patients with diagnosed or suspected Ehlers-Danlos Syndrome and/or diagnosed or suspected Multiple Sclerosis and age-matched healthy controls.Persons living with diabetes and patients unable to sit inposition for testing are excluded.
Lisa Emrich is a patient advocate, accomplished speaker, author of the award-winning blog Brass and Ivory: Life with MS and RA, and founder of the Carnival of MS Bloggers. Lisa uses her experience to educate patients, raise disease awareness, encourage self-advocacy, and support patient-centered research. Lisa frequently works with non-profit organizations and has brought the patient voice to health care conferences and meetings worldwide. Follow Lisa on Facebook, Twitter, and Pinterest.