On Thursday night I attended a symposium at Cincinnati Children’s Liberty Campus that Dr. Derek Neilson, a geneticist at the Connective Tissue Clinic, held for those who can not be patients at the clinic (either due to an ever increasing waiting list or because they recently made the decision to stop seeing new patients over the age of 25 in order to better serve children in the area). The focus was on the identification and treatment of Ehlers-Danlos Syndrome – Hypermobility Type (EDS-HT). I am so grateful that he decided to do this type of outreach, because although I completely understand why they chose to set an age limit for the clinic, I am grateful to be able to hear the opinion of an expert in the field who happens to be in my own back yard. For those interested, I believe Dr. Neilson intends to hold these symposiums on a fairly regular basis. The cost is $40 (which I considered to be well worth it).
The following is a summary of my notes, and those provided by Dr. Neilson. This post is not meant to represent the work of Dr. Neilson, but rather my understanding of his presentation. I only hope that some will find it helpful in navigating identification and treatment of this complicated condition.
EDS-HT(Previously known as EDS Type III) is a genetic disorder of the connective tissue. The specific genetic defect has not yet been identified, and there may be multiple genetic causes of the disorder. Therefore, genetic testing is not necessary in a patient that presents with EDS-HT unless there is a family history of organ or aortic rupture.
Because genetic testing is not yet reliable for identifying EDS-HT, the diagnosis is made clinically. The components of clinical evaluation include discussing family history, use of the Beighton Scale to assess joint hypermobility, and assessing for minor criteria including skin differences (stretch marks, mild elasticity, weakened scars, easy bruising). EDS-HT is believed to be inherited in an autosomal dominant manner, therefore there is usually at least one parent who shows signs of EDS (if lacking a formal diagnosis).
Dr. Neilson shared that most recently they have reason to believe that the prevalence of EDS-HT could be as common 1 in 200 persons, with asymptomatic hypermobility occurring in as many as 1 in 5 people. He indicated that hypermobility becomes EDS-HT when associated symptoms disrupt daily living (and therefore minor criteria for the disorder are met). EDS-HT most often seems to take one of three trajectories (1) asymptomatic (2) mild (3) severe.
The symptoms of EDS-HT (as relayed by Dr. Derek Neilson) can be explained by dysfunction occurring in two different systems:
- Musculoskeletal System – Joint instability makes those with EDS-HT more prone to joint dislocations, subluxations, and further damage to already weak connective tissue surrounding joints (ligaments, tendons). Arthritis can occur in those with EDS-HT, but pain without arthritis is also common. This pain comes from the muscles, which show abnormal patterns of tension and weakness from compensating for lax joints. Additionally, people with EDS-HT display a defect in proprioception (ability to interpret messages from our muscles and tendons that allows us to understand where our body is in space). This defect causes EDSers to move excessively in order to keep themselves stable. This increased movement increases muscle tension throughout the body, which causes additional pain.
- Autonomic Nervous System (ANS) – The ANS is the group of nerves responsible for the regulation of automatic processes such as heart rate, blood pressure, breathing, alertness, digestion, and sleep. The ANS can be divided into the sympathetic nervous system (“fight or flight”) and the parasympathetic nervous system (“rest and digest”). EDS-HT symptoms that can’t be explained by musculoskeletal differences can be explained by inappropriate or excessive activation of the “fight or flight” response. Specifically, in EDS-HT there seems to be an insensitivity of the baroreceptor, which maintains proper blood volume and blood pressure. This means EDSers often have low blood volume, are chronically dehydrated, have migraine headaches, have abdominal pain and nausea after eating, have dizziness when standing (orthostatic intolerance) ,and display Raynaud’s phenomenon (blue/white, cold fingers and toes). Our bodies do not release as much norepinephrine (a neurotransmitter) as they should because of the decreased baroreflex, and are therefore constantly forced into a “fight or flight” state in order to maintain blood pressure.
- Address abnormal muscle movement, tension & weakness. Exercises, and stretching should be used to strengthen weakened muscle groups and reduce muscle strain/tightening and therefore pain.
- Identify and address proprioceptive defects with exercise to improve core strength, stability, and balance.
- Address chronic dehydration through blood volume expansion.
- Address overactivity of the “fight or flight” response by decreasing sensitivity of the response and increasing blood flow to the brain.
- Physical Therapy – Physical therapy directed by a therapist who is EDS literate can address poor balance and stability, as well work on the abnormal patterns of muscle tension and weakness caused by joint laxness. Patients who have tried site-specific physical therapy (knee, neck, etc…) without success may try again with a therapist who takes an “inside out” approach and starts by stabilizing core muscles. Aquatic therapy can be helpful for those who are unable to tolerate upright exercise as a result of pain or autonomic dysfunction. Consider orthotics, if necessary to correct alignment of joints.
- Exercise – Hear me out! I (and Dr. Neilson) know that most EDSers find upright or standing exercise to be difficult or even harmful. It can increase pain and trigger the “fight or flight” response which results in racing heartbeat, nausea, exhaustion, and a sense of impending doom. This is why Dr. Neilson recommends The Levine Protocol – which utilizes seated exercise (recumbent bicycle, rowing machine, NuStep), or exercise in a pool (swimming, aerobics, etc…). Patients should work up to 30 minutes a day, 5 days per week of pool or seated exercise where their heart rate reaches 80% of maximum (220 – age x 80%).
- Fluids – Because of lower blood volume, EDSers should take in more water than is recommended for others – 90-100 oz. daily. We should do this even if we don’t feel like it, because we often do not feel thirsty even when dehydrated. 3 to 5 g (about a teaspoon) of additional salt should be added to food to help with fluid retention. IV fluids are sometimes used regularly, but as a last resort.
- Autonomic Control Beyond Fluids – Medications, if needed, should be used in addition to fluid increase and exercise, not as a substitution. Medications that improve fluid retention or increase blood flow to the brain include fludrocortisone, and midodrine. Avoid diuretics, which may make blood pressure fluctuations worse. Beta-blockers may be helpful, and are typically prescribed for autonomic dysfunction. They mask symptoms but do not address the underlying cause of autonomic dysfunction. Some patients sleep better while on beta-blockers. Beta-blockers also have many negative side effects such as depression, an increase in low blood pressure, and greater mast-cell activation. Therefore the use of beta-blockers should be well thought out, and not a first line of treatment.
- Controlling Histamines – Some EDS-HT patients have episodes of flushing, hives, itching, and/or diarrhea when exposed to a particular food or environmental allergy or intolerance. These are signs of mast cell dysfunction. Mast cells release histamine, which in turn causes blood vessels to dilate and leak. This can make autonomic dysfunction worse. Some EDSers notice improvement of overall symptoms including GI difficulties with daily use of Zyrtec and Zantac which come over-the-counter, and are known to stabilize mast cells. If this protocol is not helpful, an allergist may be able to help come up with a plan of care. Recognizing and avoiding triggers is also important. Keeping a food diary can be helpful for this purpose.
- Pain Medication – Pain management is similar to that in Fibromyalgia (Dr. Neilson estimates that at least 50% of those with a Fibromyalgia diagnosis would meet the criteria for EDS-HT). He mentioned that medications such as Cymbalta, Savella, and Lyrica may be useful for pain management. Regular use of narcotics and/or muscle relaxers is not recommended (although he did not rule out use of these medications periodically).
- Surgery – Dr. Neilson indicated that surgery for various difficulties including capsule tear, cervical instability, and Chiari malformation should be considered carefully. Less invasive treatments should be considered first. In the case of Chiari malformation, if untreated dysautonomia could be causing the symptoms, this should be treated first (treatment for dysautonomia is less invasive). Surgery to create “stability” can often be unsuccessful in EDSers. Obviously, each case should be individually considered!
Looking back on this night, I know that I learned a lot from this symposium. At times, when Dr. Neilson was running through case studies, I felt he was describing me to a T. Personally, I have found standing exercise to be difficult and possibly harmful, and while I await testing for POTS, a form of dysautonomia, I plan to begin increasing my fluids and to start a seated or pool based exercise regimen. I feel hopeful that I have more direction in how to address treatment, and am looking forward to discussing this with my doctors. I hope you find something useful to take away (and discuss with your doctors) as well!
Source: Neilson, D., MD. (2016, April 21). Principles of Therapy for Ehlers-Danlos Hypermobility Type. Lecture presented at Hypermobile Ehlers-Danlos Syndrome Educational Symposium in Cincinnati Children’s Hospital Medical Center – Liberty Campus, Cincinnati, OH.
Disclaimer: I am not a doctor, and this post is not to be interpreted as medical advice. It is merely intended to be informational. If you have any concerns or questions about your medical treatment please see a physician.