Obviously the Ehlers-Danlos Society's conference had quite a bit to say about EDS... This post will cover highlights, but also links to all of the slides are provided below if you would like to learn more.
Dr. Francomano (my doctor, EDS specialist/researcher in Baltimore, very kind woman)
There are now 14 known types of EDS. Genes for 13 of the types have been identified. Unfortunately the 14th, hEDS, is the most common. The EDS Society has received a grant to find the responsible gene for hypermobility type, but odds are it's actually a conglomeration of multiple genes and other factors (like MCAS?), so it will likely not be an easy discovery.
The most common types are autosomal dominant, while some of the rarer types are recessive. It is usually inherited, although some cases may be the result of new mutations (I have a theory here, for another time). All types of EDS mutations affect structural proteins in connective tissues, as well as the enzymes responsible for processing these proteins. Examples of tissues involving significant amounts of connective tissue: tendons, ligaments, bone, cartilage, dura (the membrane around the rain and spinal cord). All types involve joint laxity. Most types also involve skin hyperextensibility, fragility, and abnormal bruising or scarring. Other organs may be affected as well, depending on the type. Connective tissue is found in every organ of the body, so the symptoms can be widespread and multi-systemic. As a result, treatment requires multi-disciplinary care.
About two years ago, new diagnostics were developed for EDS, and can be found here.
Common complications with EDS include headaches (for a variety of reasons), chiari malformation, cervical instability, autonomic dysfunction (including POTS), allergy issues (MCAS?), neuropathic pain, tethered cord, a wide variety of GI and urinary issues, pelvic pain/dysfunction, autoimmune disorders, etc. Specific types can cause more serious symptoms. Vascular EDS, in particular, can cause major blood vessels to rupture, but most types do not have life-threatening complications. Obviously, the most common issues with EDS, especially hEDS, are musculoskeletal. With tendons, ligaments, cartilage, and bone all made from connective tissue, joints are very affected. Common issues are subluxation (partial dislocation), dislocation, hyperextension, and susceptibility to injury. Once injured, EDS patients do not heal normally. Also, since the skeleton is not sufficiently held together, muscles over-compensate by spasming. So pain can come from many directions, and once chronic pain occurs, it causes additional complications (more on central sensitization later).
Other thoughts:
EDS and fibromyalgia are not mutually exclusive
Anxiety common -- maybe caused by autonomic dysfunction and/or medical PTSD from going so long without a diagnosis (and traumatic medical experiences)
80-90% of EDS patients are female-bodied, so there must be an unknown hormonal (or other) factor
Toni Kline, Pediatric EDS
It can be difficult to diagnose children because not all symptoms develop in childhood. 85% of her EDS patients have hEDS. The Beighton test, while helpful, is not comprehensive. It does not include laxity in hip/shoulder joints, for example. She looks for pain in more than one joint, recurrent pain in a joint, excessive pain after joint injury, flat feet, easy bruising, skin abnormalities, scoliosis, hypermobility, and fatigue.
She recommends strengthening muscles and minimizing contact sports. Quitting sports altogether may not be the right choice, however, since fitness/strength is so important to upkeep. Swimming, biking, and walking are most recommended. PT is the most important part of treatment. Writing in school can be difficult, so she recommends pen/pencil accommodations, ring splints, and typing rather than writing when possible.
Of Dr. Kline's patients, 10% have already developed POTS and 20% have GI issues. She also sees excessive fatigue, brain fog, poor sleep quality (especially in females), pain, migraines, and hypotonia (decreased muscle tone). Despite the brain fog, she sees average or lower than normal rates of cognitive issues and autism.
Alan Hakim (Rheum)-- Hypermobility Spectrum Disorders
Researchers realized that the criteria are fuzzy and often in flux. Some patients who don't meet the criteria for EDS still have significant, and similar, symptoms. They've coined a new umbrella term: Hypermobility Spectrum Disorders (HSD). This spectrum spans all the way from perfectly healthy individuals who happen to have hypermobile joints to people with dozens of symptoms and comorbidities. **Note: Severity of pain and joint issues can exist equally at both ends of the spectrum.
At the medical professionals day on Sunday, Dr. Hakim urged physicians to approach new EDS patients with the following:
Time (this cannot be fixed in 15 minutes. He recommends an hour or two for the first appointment)
Listen (your training is insufficient when it comes to EDS, so listen to what the patient intuitively knows and/or has researched. This also helps patients to not become re-traumatized by experiences with providers who did not let them feel heard)
Question (probe deeper -- patients may not think to share important details because they seem less crucial or just never occurred to them. For example I never once mentioned to a physician that my joints pop. Why would I think that had to do with my GI symptoms or headaches?)
Physical examination
Considerable thought
Follow through
Ask for help (this is new research! Doctors shouldn't expect themselves, or be expected, to be experts here)
Misconceptions:
Presence of hypermobility doesn't necessarily mean a hypermobility syndrome
Low Beighton scores do NOT necessarily mean absence of hypermobility
Leslie Russek -- importance of physical therapy in EDS treatment
This cannot be overstated. Maintaining mobility and strength are crucial tools for managing symptoms like pain, anxiety/depression, and POTS. I would not be where I am today without my PT and exercise regimen. I'll use this opportunity to make another plug for Muldowney PT in RI, and their book.
For Dr. Russek's thoughts on the matter, check out her slides.