What would you do if you couldn’t depend on your body to hold you together? What if, at any time, some part of the glue that holds you together fails? Ehlers-Danlos syndrome (EDS) is a group of conditions that center on dysfunctional collagen—the main ingredient in our connective tissues.

“When you hear hoof beats, think horses—not zebras.” This is a saying in medicine that encourages practitioners not to be distracted by the possibility of rare or unusual explanations for common signs and symptoms—but sometimes this advice leaves people without an adequate strategy to cope with their challenges. For this reason, people with EDS are sometimes referred to as “medical zebras.”  
This article has been much informed by my conversations with a massage therapist who lives with the hypermobility form of EDS (hEDS). She only learned that her long history of chronic pain—along with many other symptoms—was related to hEDS when her daughter, who has a more severe version of the same problem, was diagnosed. I am grateful for her generosity in sharing her story.

“I don’t remember when I didn’t have pain. I feel like a giant Jenga tower. I never know what’s going to pop in or
pop out.”

Collagen Primer

Collagen molecules in humans are found in at least 16 distinct types and sizes. This substance is produced mostly by fibroblasts, although some epithelial cells also produce collagen. Procollagen molecules form in the endoplasmic reticulum of the producing cell, and then they are extruded into the extracellular matrix. A complicated series of chemical reactions causes the molecules to take a triple helix shape. Then, they may align and make chemical bonds to form fibrils in tight formation (the building blocks of many tough connective tissues, including tendons and ligaments). Alternatively, fibrils may become arranged in a three-dimensional packet that allows a structure to bear compressive and shearing force—this is articular cartilage. Collagen also provides the scaffolding for our bones and organs, providing stretch, strength, and resilience throughout the body.
It takes a lot of steps going exactly right for collagen to be produced in precise amounts and locations, forming the correct triple helices, joining to make fibrils, and then linking up to compose our many connective tissue structures. Because this is such a complex sequence of events, collagen is especially susceptible to malformations. In the absence of adequate ascorbic acid, for instance, the correct bonds cannot form between fibrils, and certain types of collagen fail—we call this scurvy. A whole collection of genetic mutations affecting a variety of mature collagen molecules, along with procollagen precursors, lead to the conditions grouped under the umbrella name of EDS.

What Is Ehlers-Danlos Syndrome?

Medical records of patients with easily injured skin and unusually lax joints date back to 400 BCE. Although descriptions had appeared in the medical literature before, in the early 20th century two doctors, Edvard Ehlers and Henri-Alexandre Danlos, combined their findings to identify and label this group of inherited connective tissue problems. The name Ehlers-Danlos syndrome was adopted in 1936.
The common factor in EDS is that some kind of genetic disruption occurs during collagen production. EDS encompasses many different genetic anomalies. Some are extremely unusual—only a few cases have been documented. Others appear to be more common, but it is hard to gather exact statistics because affected people may not be identified. One thing that is clear, however, is that each subtype of EDS is inherited separately. In other words, if a person has a certain type of EDS, then that person’s child might inherit the same genetic mutation—and won’t develop a different subtype of EDS.
EDS is considered to be a rare disease, which has a couple of important implications. One is that many general practitioners are not well informed about it, and may miss the combinations of seemingly disconnected physical problems it can cause. Being a so-called rare disease also means that EDS is not the subject of a lot of research, so our understanding of these conditions remains limited.

How Does EDS Affect Function?

The main ways EDS affects physical function depend on what kind of collagen is affected, and how severe the problem is. Some specialists categorize the consequences of EDS into how these disorders affect joints, the skin, and other miscellaneous tissues.

Joint Problems

The main joint problem seen with most types of EDS is hypermobility, which is not to be confused with healthy flexibility. Hypermobility is the result of pathologically lax ligaments and joint capsules—not healthy, stretchy muscles. Hypermobility of the joints leads to frequent subluxations and dislocations: people with EDS often dislocate fingers, shoulders, and even hips. These dislocations may resolve without intervention (“Don’t worry about that hip, it’ll pop back in” was the advice given to one young patient), but tissues are damaged in the process. And cumulative trauma can lead to both lost joint stability and a high risk of early-onset, painful, and irreversible osteoarthritis.

Skin Problems

People with EDS may have unusually stretchy skin, and one rare form of the condition leads to disfiguring skin laxity. The skin often has a characteristic soft, velvety texture. But while it is highly extensible, the skin of many EDS patients is fragile and prone to bruising and easy tearing. The injury repair process tends to be slow, with delicate scar tissue. In addition, many people with EDS have lesions called molluscoid pseudotumors. These are spongy nodules that develop with scars over areas that are frequently traumatized.

Other Problems

The genetic anomalies that cause EDS can affect the tissue integrity of many other organs. Bones are often shorter than average, leading to undersized stature. Muscles tend to be hypotonic and weak. The spine is prone to scoliosis, which can develop in infancy. Hollow structures may lack the ability to withstand internal pressure. In this way, people with some types of EDS are susceptible to aneurysm of blood vessels, painful constipation, intestinal perforations, and rupture of the uterus or bladder. Poor-quality collagen can compromise the valves of the heart, leading to mitral valve prolapse and a risk of arrhythmia, heart failure, and heart valve infection. Weak or insufficient collagen in the gums can lead to gum disease and tooth loss. If this occurs in the eyes, then the sclerae may have a bluish tinge and may lack the structural strength that protects the delicate working parts of the eye.

“I have super elastic skin—my face is stretchy. I live with chronic, totally random pain. I had endometriosis and abdominal surgeries, which led to massive amounts of scar tissue in my abdomen. I have Raynaud’s syndrome, scoliosis, and migraines. I had lots of complications with pregnancy: I had an umbilical hernia, my pubis symphysis separated, and my feet were so hypermobile that bearing weight caused me excruciating pain. Later, when I had a hysterectomy, my surgeon was amazed that I was able to have a baby at all, given the state of my uterus.”

A list and brief descriptions of the 13 discrete subtypes of EDS is provided in the “Connective Issues” video that accompanies this article.

How Is EDS Treated?

At this point, cases of EDS are treated according to symptoms. People with hypermobile joints are taught how to preserve joint function and are discouraged from stretching joints beyond a healthy range of motion. They are also warned away from contact sports or other activities that put them at risk for injury. Skin wounds are typically treated with bandages or wound glue rather than sutures, because the skin is so delicate. Any surgery or dental work is conducted with extreme care because of poor wound healing, and because people with a risk of mitral valve prolapse are also at risk for a bacterial infection of the heart called endocarditis, a possible complication of dental work.
 
“My main painful areas are my spine (my scoliosis makes my vertebrae poke into my quadratus lumborum) my hips, and my feet—my feet are probably more hypermobile than my hands. My legs kill me all the time. If I walk, they’ll throb. I assumed everybody had that—I was surprised when I learned that isn’t so.”

Effective and well-rounded care for people who live with EDS means working with a team that might include physical and/or occupational therapists to find coping mechanisms for the activities of daily living, a psychotherapist to help with the frequent mood challenges that accompany chronic pain, and possibly even a massage therapist to help with pain, function, and self-efficacy.

“I can do things ‘regular’ folks can do, but I may have to pay the consequences. I have to weigh my choices: if I scrub the bathtub, will I be able to do massage later today or even tomorrow? It’s unlikely … so I have to choose.”

Implications for Massage Therapy

Most people with EDS have hypermobile joints, so any bodywork that challenges range of motion must be done with respect for this problem. However, this doesn’t mean we need to treat them like delicate flowers.

“I need firm pressure massage. If you were to give me just light touch, I wouldn’t punch you in the face—but I would want to. I might crave intense deep work. But is that what’s best for me? That’s where we have to be careful listeners, and work on creating a safe space for clients.”

Because joints tend to be loose, people with EDS may experience muscle tightness or weakness, pain, and inefficient movement. Bodywork that focuses on stress reduction and functional muscle tone may be especially helpful for people living with a genetic disorder that impacts their quality of life.

“My goal is to not trigger the flight-or-fight response—that is completely counterproductive. There’s a big emotional component to living with pain. I feel like part of my job is to say, ‘I see you. You’re not crazy. I know how painful it is. I know there are consequences to every movement.’ ”

The guiding variables about working with clients who have EDS are not very different from those we might apply to working with any client with chronic pain problems: we listen attentively, offer validation absent of judgment, and proceed based on what we discern is in the client’s best interest—with special cautions about skin health, joint stability, and cardiovascular function.
EDS is a genetic disease, and as such, no “cure” currently exists, but massage therapy can be a part of an overall strategy to help cope with the challenges of this condition, which is probably more common than we know. We won’t repair the genetic anomalies that interfere with healthy collagen production, but with care and education we can improve our clients’ life experience.

Resources

Cravero, Cora et al. “Case Report: Cornelia de Lange and Ehlers-Danlos: Comorbidity of Two Rare Syndromes.” BMJ Case Reports (2016). Accessed October 2019. www.ncbi.nlm.nih.gov/pmc/articles/PMC4746515.
Defendi, G. L. et al. “Genetics of Ehlers-Danlos Syndrome: Background, Pathophysiology, Epidemiology.” Updated September 5, 2019. Accessed October 2019. https://emedicine.medscape.com/article/943567-overview.
Ehlers Danlos Society. “What Are the Ehlers-Danlos Syndromes?” Accessed October 2019. www.ehlers-danlos.com/what-is-eds.
Fragoulis, George and Iain McInnes. “Hypermobility Syndromes: Marfan’s, Ehlers-Danlos.” Rheumatology Advisor (2019). Accessed October 2019. www.rheumatologyadvisor.com/home/decision-support-in-medicine/rheumatology/hypermobility-syndromes-marfans-ehlers-danlos.
Lee, Samantha and Katryna Kofton. “What It’s Like to Have a Body That’s Literally Falling Apart.” The Cut (January 17, 2019). Accessed October 2019. www.thecut.com/2019/01/what-its-like-to-have-ehlers-danlos-syndrome.html.
Lodish, Harvey et al. “Collagen: The Fibrous Proteins of the Matrix.” Molecular Cell Biology. 4th ed. (2000). Accessed October 2019.         www.ncbi.nlm.nih.gov/books/NBK21582.
Malfait, Fransiska et al. “The 2017 International Classification of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics 175, no. 1 (March 2017): 8–26. Accessed October 2019. https://doi.org/10.1002/ajmg.c.31552.
Meetze, Murray. “It’s Not About ‘Flexibility.’” Accessed October 2019. www.murraymeetze.com/uniquelystriped/its-not-about-flexibility.
National Organization for Rare Diseases. “Ehlers Danlos Syndromes.” Accessed October 2019.                         www.rarediseases.org/rare-diseases/ehlers-danlos-syndrome.