When I was in my post-graduate training, I met a mother who had brought in her two children and a small stack of papers, having spent time researching a condition she felt her children may suffer. She had previously spoke with the nurse practitioner in this clinic about her concerns, but today she was in need of definitive diagnosis because she felt they were in need of an Individualized Education Plan (IEP).
Admittedly, I am not super sure I was familiar with #EhlersDanlos Syndrome previously. I had already had a decade of experience as a clinician and another decade of experience as a nurse, but in those twenty years, I can't recall ever coming across this diagnosis, so I was intrigued. This mother talked about her daughters being especially equipped in gymnastics because of their innate #flexibility and her son demonstrated some cool tricks with his fingers that his friends thought were just a fancy party trick, but they were actually starting to cause him discomfort.
Not too long after, I spent some time working in a pain clinic, and here is where I met a few more sufferers of Ehlers-Danlos, also learning there is some association with #autism and it being strongly genetic. In fact, it's more than flexibility, there are a plethora of associated symptoms and even presentations, so this one is wildly missed in clinical practice. Ehlers-Danlos if known, is recognized for its hyperflexibility, but in reality, this is a genetic disorder affecting collagen formation and function in virtually every organ system in the body. Worst case scenario, we can see arterial rupture, organ rupture, joint dislocation, chronic pain, and fatigue, among many other discomforts. Now I am seeing it in my own clinical practice and here's what I am discovering.
Can you now (or could you ever) place your hands flat on the floor without bending your knees? Can you now (or could you ever) bend your thumb to touch your forearm? As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits? As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? Do you consider yourself double-jointed?
Flexibility is the key here, or hypermobility, but Ehlers-Danlos is a connective tissue disorder, so it can present in a number of ways; it can even present with reduced mobility in a sense that sometimes the joints and connective tissues are so flexible, the muscles tense up to maintain some stability, which causes an overall tightness. It may present though in the skin, the heart, the pelvic floor, chronic pain, or even as a superpower. Let me explain.
Hypermobility Spectrum Disorders
The most common reason primary care providers will hear complaint of symptomatic joint hypermobility conditions in clinical practice is because they fit somewhere on the spectrum of hypermobility disorders, including Ehlers-Danlos syndrome (EDS). Not everyone will have a more severe presentation, but like most things in the animal kingdom, this isn't black and white. It isn't that you either completely relate or you completely don't; hypermobility disorders are on a spectrum. Some aren't symptomatic at all, but even if so, physical exam will identify joint hypermobility.
Ehlers-Danlos is a connective tissue disorder and it is inherited. Scientists have identified genes that underlie abnormalities in the structure, production, and/or processing of #collagen. As of 2017, 13 subtypes of Ehlers-Danlos are recognized. There are individuals without symptoms, then there are individuals who are somewhere between Ehlers-Danlos and those without symptoms, who fall on the portion of the spectrum we call "hypermobility spectrum disorders." Once one is determined to meet diagnostic criteria though, for Ehlers-Danlos, there are the thirteen subtypes: hypermobile EDS, classical, classical-like, cardiac-valvular, vascular, arthrochalasia, dermatosparaxis, kyphoscoliotic, Brittle cornea syndrome, spondylodysplastic, musculocontractural, myopathic, and periodontal.
What is Joint Hypermobility?
This is one of the more common features among EDS subtypes and even other connective tissue disorders, and it's defined as the ability of a joint to move "beyond normal limits along physiologic axes" (Yew et al., 2021). These disorders may impact all joints or they may only impact only a few. When the symptoms are pretty common to most joints though, this is more often a genetic syndrome.
The most common Ehlers-Danlos variant is the hypermobile EDS, representing 80 to 90 percent of all cases, and with this one there is joint hypermobility, but also skin findings, joint pain, and recurrent dislocations. Many times we'll have clients who have joint hypermobility and their symptoms are primarily musculoskeletal, but they don't necessarily meet criteria for EDS. EDS in itself is not common, about seven to ten individuals of about 5,000. Again, it took me twenty years to see it. If we combine hypermobile EDS with the hypermobility spectrum disorders then we reach about three or four of every one hundred adults. Generalized joint hypermobility is even more common, and remember, many aren't even having symptoms, but this can be identified on physical exam. One study found 4 to 11 percent of children have generalized joint hypermobility.
Interestingly, EDS is the only EDS subtype for which a genetic mutation or genetic variant has not been discovered. Hypermobile EDS is considered to be an inherited, autosomal dominant trait, with incomplete penetrance. What scientists seem to understand is that this is a laxity of muscles and tendons, reduced #proprioception, and significantly disordered connective tissue structure, and alterations in gene expression (Yew, et al., 2021).
What You Might be Seeing if You Suspect EDS
This is complex, and largely a clinical diagnosis, so based on expertise and experience; however, there are a range of signs and symptoms and they can vary in degree and even combination so this diagnosis can be a real challenge. Joint mobility declines with age, and this decline is considered when asking historical questions for individuals that don't appear to have overt joint hypermobility. The more significant findings are actually #anxiety, chronic pain, fatigue, orthostatic intolerance, functional gastrointestinal disorders, and pelvic and bladder dysfunction.
Have I got your attention now? Not quite what it seems when you just skim the surface of this diagnosis. Common presenting features are clumsiness, motor or speech delay in childhood, extreme flexibility or double-jointed as a child, recurrent or chronic joint pains which can be limited or widespread, joint subluxation or dislocations without significant trauma, or recurrent hernias, pelvic organ prolapse, or rectal prolapse.
There's more though. Unusually soft, silky, or velvety skin and really stretchy skin are additional components of EDS. Can you easily pull up the skin on the top of your hand or on your neck? Mild scar atrophy, even those stretch marks on the back that extend horizontal are suggestive of EDS. This occurs when skin isn't able to regenerate fast enough to create a nice, smooth scar or in the case of striae, fast enough to allow the skin to grow with the demands of adolescence so with scars, for example, the skin may be sunken in a bit, wider or more shallow than normal, and stretch marks may not be associated with weight gain or pregnancy. Ehlers-Danlos is also associated with small fat herniations, similar to balls just beneath the skin on the outside of the foot or heels. These are called piezogenic papules.
Still more. EDS is also associated with symptoms within the autonomic nervous system, such as low blood pressure or passing out, feeling lightheaded when you stand, or even POTS. Mitral valve prolapse or insufficiency, as well as low progressive aortic root dilation are seen with EDS. There are also neurologic, gastrointestinal, musculoskeletal, mucocutaneous, ocular, and gynecologic symptoms associated with EDS, as well as psychological. Fibromyalgia, flatfoot, high arches, narrow palate, involuntary muscle contractions, an arm length greater than one's height, reduced bone mass, nonsurgical pectus excavatum, temporomandibular joint dysfunction, headaches, migraines, impaired memory and concentration, sleep disturbances, nearsightedness and strabismus, ADHD, chronic fatigue, depression, obsessive-compulsive disorder, panic attacks, phobias, resistance to local anesthetic drugs, light blue sclerae, keratosis pilaris, hernias, gingival inflammation, easy bruising, atrophic scars, tight frenulum, severe menstrual cramps, painful sex, heavy or too light menstrual flow, pelvic organ prolapse, urinary stress incontinence, chronic upset stomach, difficulty stooling, gastroesophageal reflux, hiatal hernia, various food intolerances, and a number of other symptoms stemming from the same underlying pathology.
There are No Confirmatory Tests for Diagnosing EDS
Overwhelmed? Yep. One study has found that from the onset of symptoms to diagnosis, individuals are typically running after a diagnosis for about ten years before EDS is identified (Yew et al., 2021). There are a few screening tools that have proven helpful to clinicians, but when symptoms are systemic and not just local, and there is a history of joint hypermobility or joint pain then EDS should be considered. The diagnosis though, really is a clinical decision based on history and exam, and ultimately ruling out other potential pathologies. It may be too that EDS isn't quite a fit but a hypermobility spectrum disorder is a better fit.
Family history typically assists with diagnosis as well, but beyond joint hypermobility, we ask about musculoskeletal symptoms, aneurysms, and genetic conditions. Understanding gene encoding the collagen or proteins interacting with it can help us identify the type of EDS. If Ehlers-Danlos syndrome is suspected, the clinician would then work to determine the degree and pattern of hypermobility using a validated tool known as the Beighton score. From here, the remainder of the hypermobile EDS criteria are sought. The clinician will dive in a bit more into musculoskeletal symptoms, evaluate for abdominal hernias and organ, and mitral valve prolapse, even examining the skin, testing for arachnodactyly, and measuring the ratio of arm span to height. It's important to recognize the potential for Ehlers-Danlos syndrome on the various body systems, because for example, when an individual has the vascular type, arterial rupture and organ perforation can prove life-threatening (Miklovic & Sieg, 2023).
While there are no tests to confirm the diagnosis of EDS, a screening echocardiography should be performed to evaluate for aortic root dilation or mitral valve prolapse in those with possible hypermobile EDS. Specific genetic testing should be performed for other EDS variants, Marfan and Loeys-Dietz syndromes, and other genetic conditions when suspected (Yew et al., 2021). Admittedly, it can take several visits to really confirm the diagnosis and if a client's EDS includes anxiety and panic disorder, or mast cell activation, this can be a really difficult case to discern. Many don't entirely meet hypermobile EDS criteria and they don't have clear evidence for another specific syndrome within the hypermobility spectrum. The referral here, when unclear is to a genetics specialist. We do have more information in our Epigenetics program though on obtaining and understanding your genetics, including information specific to Ehlers-Danlos.
Now What? So You Have Ehlers-Danlos
Empowering you through education is now my best approach following diagnosis. There really is quite a bit available on YouTube and even Tick Tock to get you more familiar with EDS and how it impacts different individuals. These testimonials may really help you better identify how it might be impacting you as well, and share even more of your experience so we can better coordinate resources for your own health and wellness.
The goal then becomes managing symptoms, preventing joint injury, and really investing in understanding how this condition can manifest itself and of course, how to optimize outcomes in each individual it impacts. There isn't a ton of evidence to guide management, so expert opinion is really the guide here. Physical and occupational therapy, psychological support, and self-management is the best understood approach for resolving symptoms, but this is a lifelong condition with no curative treatments. The many different systems involved in EDS means treatment strategies are diverse. A multidisciplinary team coordinated by the primary care provider may include both physical and occupational therapists, orthotists, nutritionists, lifestyle coaches, psychologists, nurses with various specialties, and community support. Specialty care may also prove necessary, including dermatology, cardiovascular, orthopedics, gastrointestinal, and even pain management specialists.
Treatment most often does include physical therapy and non-steroidal anti-inflammatory drugs, heat and cold application, improved ergonomics and posture, relaxation techniques, massage, hydrotherapy, and joint stabilization techniques with bracing and taping are all approaches that can be advantageous. Medications that diminish platelet function should generally be avoided, because EDS individuals do bruise rather easily. Physical therapy is typically centered on strength training, proprioceptive exercises, and joint protection. Upper extremity and hand muscle strength is often the focus of occupational therapy, as well as identifying ways to improve activities of daily living, and introducing adaptive writing instruments and other similar tools. Tai chi has demonstrated many benefits, particularly for those with osteoarthritis, fibromyalgia, and low back pain.
Education focuses on lifestyle modifications, management options, and expectations. Sleep is vital and really understanding how to protect joints, even weight management, avoiding substance abuse and consuming a healthy diet is also key. Supporting mobility and functionality may take thinking outside the box, as presentation can be wildly different from person to person. Sadly, studies have recognized that individuals with EDS often have their experience, their discomfort minimized and invalidated in their social circles and even with medical professionals because they appear normal and because EDS is still a bit of a mystery for many. This is especially risky when invasive testing and procedures are performed because bleeding, inadequate response to regional and local anesthesia, and iatrogenic injuries are real risk.
We can't ignore mental health either. Investing in talk therapy, cognitive behavioral therapy, and even psychotherapy may help reduce anxiety, depression, catastrophizing, and kinesiophobia (fear of pain due to movement), with improved physical function and self-efficacy.
What Does This Diagnosis Mean for My Life?
When EDS is diagnosed in childhood, the natural progression seems to move from a generalized joint hypermobility, with or without joint pain, to having musculoskeletal pain, falls, mixed headache, and functional gastrointestinal disorders by the second and third decades of life. By the third and fourth decades of life, individuals develop inflexibility, widespread pain, and limiting fatigue. The prognosis of hypermobile EDS or even hypermobility spectrum disorders varies widely and is difficult to predict for individuals (Yew et al., 2021).
The literature does seem to suggest that disease severity and progression is best understood by whether the condition impacts multisystems, whether pain and fatigue are factors, and what level of postural control the individual maintains. Variable outcomes are the rule though. In adults, chronic pain, gastrointestinal and genitourinary problems, fatigue, restricted mobility, and frequent injuries were most often associated with the functional outcomes of decreased perceived quality of life and decreased participation in activities of daily living (Yew, 2021).
Addendum: newer study published in October of 2023 titled, Clinical Trajectory of Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders in Older Adults
Aging can have a significant impact on our joints and connective tissue, leading to systemic changes over time. This may manifest itself as aging skin, osteoarthritis and osteoporosis. Ultimately, multisystemic, nonspecific, and unpredictable symptoms can occur but because most studies on Ehler-Danlos is on young people, this condition is often unrecognized and undiagnosed in the older population; not to mention we use to think this was a fairly rare disease, at only about one in 5,000 affected, but today we recognize its prevalence is a bit closer to one in 500 (Anderson & Lane, 2023).
Earlier symptoms are typically reported as musculoskeletal such as muscle weakness, joint dislocations or subluxations, and soft tissue injuries. These tend to worsen over time and do impact function. The progression of the disease though will many times include cardiovascular and autonomic dysfunction, even gastroinestinal symptoms at some point. Sleep disturbances, neurological, psychological, skin and genitourinary symptoms are also common into advancing years, as are headaches, chronic pain, depression, anxiety, and suicidal ideation (Anderson & Lane, 2023). Clinicians really do need to be cognizant of this condition, and inquire your own primary care practitioners knowledge if you suspect you have EDS, because most have to see several practitioners before a diagnosis is made, especially into their senior years. If you have fibromyalgia or joint pain, consider the potential.
References
Anderson, L., & Lane, K. (2023, October). Clinical trajectory of hypermobile Ehlers-Danlos syndrome/hypermbility spectrum disorders in older adults. Journal of the American Association of Nurse Practitioners, 35(10), 605-612.
Miklovic, T. & Sieg, V. C. (2023). Ehlers-Danlos syndrome. StatPearls. https://www.ncbi.nlm.nih.gov/books/NBK549814/
Yew, K. S., Kamps-Schmitt, K. A., & Borge, R. (2021). Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders. American Family Physician, 103(8), 481-492.