The human body is a complex landscape, and that landscape is made up of countless, invisible connections. Without those connections––whether they’re neurological (like synapses in your brain), vascular (part of your veins or arteries), or musculoskeletal (think joints and ligaments)––we would be a collection of different parts, rather than a single, unified body.

Ehlers Danlos Syndrome, or EDS for short, is one of these disorders. It occupies a strange intersection, and it can be described as “rare but not uncommon” as far as genetic diseases go. It is misunderstood both within and without the medical field, and this is partly because it is both incurable and difficult to diagnose.

So, what exactly is EDS? How is it managed, and how do you know if you ought to seek a possible diagnosis? 

In honor of national EDS day (January 31), and our partners at The Fem Word and Restore Motion are here to inform, educate, and explore the little-known world of Ehlers Danlos Syndrome and its many faces.

   

Bent Out of Shape––The What, Why, & Who of EDS and hEDS

Ehlers-Danlos Syndrome is part of a group of disorders known as the hypermobility spectrum disorders. To describe these disorders in layman’s terms, imagine you’re looking at a picket fence.

This fence is made up of many boards held together by nails. If those nails are strong and functioning the way they’re supposed to, the fence is flexible enough to withstand wind or the weight of something leaning against it, but it’s strong enough not to fall over or break under these same conditions.

Someone with a hypermobility disorder has faulty nails. Their connective tissues are too easily bent or pushed out of place. Their joints and other connecting “parts” are unstable, and this instability leads to pain, frequent injury, fatigue, and more.

EDS is a name used to describe several hypermobility spectrum disorders, including Hypermobile Ehlers Danlos Syndrome, or hEDS.

As many as 1 in 3,000 or as few as 1 in 40,000 people suffer from some form of EDS, and some of the rarer types may be present in as few as 1 out of one million people. It is more common in females than males, but anyone can suffer from this pernicious disorder.

The unstable connective tissues characteristic of EDS are caused by a mutation in the genes that produce collagen (and a few related proteins). Collagen is an essential component of skin, joints, veins, and muscles, and therefore EDS can impact any or all of these areas of the body. 

The most common symptoms of EDS relate to the skin and joints, but these are not the only parts of the body to suffer the effects of this disease. We’ll go over specific symptoms later in this article.

Beyond the specifics, it’s important for all of us to understand three things about EDS: it’s real, it’s debilitating, and we need to raise awareness so that researchers can find out more about this rare genetic condition.

From Head(aches) to (Double Jointed) Toe––EDS Symptoms & How They Impact Quality of Life

One of the best parts of being a kid is the freedom to run, climb, and play with others. For a child with EDS, however, these early forms of play may begin to reveal an array of alarming symptoms.

Other EDS sufferers don’t notice their symptoms until much later in life. Compounding this is the relative lack of knowledge present in the medical community regarding this heritable disease. Some patients report waiting 10-20 years to receive a diagnosis, and they are often dismissed or passed from specialist to specialist before anyone even brings up the possibility of Ehlers-Danlos Syndrome.

Throughout this time patients may suffer from a dizzying array of symptoms––and no two EDS sufferers experience the same exact lineup. Here’s a brief overview of common and less-common EDS symptoms, most of them taken from the Ehlers-Danlos Society website.

Joint Symptoms

Joint-related conditions are the most common EDS symptom, and these can include:

• Joint pain
• Frequent dislocations
• Muscle weakness, tension, or soreness
• Early-onset arthritis or similar pain
• Deformities (such as scoliosis or ‘crooked’ limbs)
• Hernias
• Neuropathy
• Pelvic floor weakness/prolapse
• Spinal disc problems

It should be noted that joint-related symptoms will often display themselves throughout the body, especially via the musculoskeletal system.

This is because loose joints cause increased strain on the nearby soft tissues (muscles, ligaments, and tendons) that stabilize them. These soft tissues themselves often are overly lax, and because of their laxity and the increased strain placed on them, they are prone to tearing and spasming. This leads to pain and stiffness around joints.  

The pain may or may not be clearly related to any specific activity. Pain strains your system, wears you down, disturbs your sleep, and makes you irritable and even depressed. When you experience chronic pain––which is common when joint problems are involved––the effects spread all across the body and into the realm of one’s mental health.

Diligent exercise and physical therapy are the best way to handle these problems, regardless of whether you have EDS or not. A good physical therapist can help you relieve muscle tension  and improve the muscle balance around loose joints to stabilize them. 

It’s important that you speak to a professional PT and don’t rely on internet sources or unqualified advice when developing an exercise routine, especially if you have or suspect you have a deeper issue like EDS. It’s far too easy to injure yourself otherwise, and those injuries can compound and worsen your health far beyond the initial problem.

Vascular Symptoms 

Vascular EDS is often considered the most severe subtype of the disorder, especially when it is present in females. The symptoms of Vascular EDS (according to the vEDS movement website) include:

• Gum recession and fragility (often shown as frequent bleeding or a propensity toward gum disease)
• Frequent and seemingly spontaneous bruising
• Ruptures of the veins, arteries, and organs (uterine and aorta ruptures are one of the major complications associated with this disease)
• Early onset varicose veins
• Tendency toward hemorrhaging
• Engorged/bulging eyes, specifically the cornea
• Lung collapse, either total or partial
• Tachycardia, a.k.a. an elevated heart rate
• Dysregulated blood pressure

Vascular EDS is rare, but it is the deadliest form of EDS due to the simple fact that it is often diagnosed after a major complication. It’s not uncommon for women to discover they have this condition during pregnancy and labor, when ruptures occur and blood loss becomes a major problem.

If you suspect that you or a loved one might have vEDS, it’s important that you speak with a specialist and seek genetic testing as soon as possible.

It’s worth noting that many of these symptoms (such as tachycardia, blood pressure irregularities, and associated dizziness/fatigue) can be caused by a much more common disorder known as Postural Orthostatic Tachycardia Syndrome, or P.O.T.S. 

We’ll provide more information about P.O.T.S. in another article, but for now it might be worth talking to a trustworthy physician or specialist about it. The main symptoms of this syndrome are an elevated and/or dysregulated heart rate, frequent dizziness or fainting when standing or shifting posture (i.e. “seeing stars”), fatigue, and lightheadedness.

Skin/Dermatological Symptoms

The skin is our body’s largest organ, and it is connected to a number of invisible systems that many of us rarely think about. This is why many skin-related symptoms are easy to overlook. Some of them include:

• Extremely soft, stretchy skin (it is often described as velvety or satin-like in texture)
• Thin, translucent skin
• Very visible veins (especially under the eyes and around the joints)
• Skin that tears easily
• “Extra” skin that may sag or bunch in certain areas
• Premature aging of the hands and feet
• Blue or blue-tinged sclera, visible in the eyes
• Poor healing, resulting in prominent scars and lesions

There is a skin-related subtype of EDS known as dEDS, or Dermatosparaxis EDS. In patients suffering from this subtype, symptoms may stay within the realm of skin and skin-adjacent systems without impacting other parts of the body.

Other EDS/hEDS Symptoms

Before we look at other or uncategorized EDS symptoms, bear in mind that this disease is still fairly misunderstood. There is a large gap in knowledge among researchers, sufferers, and medical experts regarding exactly how different forms of EDS may present themselves and overlap.

For example, someone may have the genetic abnormality related to vEDS, but that doesn’t mean they won’t show dEDS symptoms (or vice versa).  Some of the “other” or comorbid symptoms of EDS include:

• Specific facial features (especially common in vEDS) that include
  • A thin nose
  • A thin upper lip
  • Prominent eyes
  • A small, tight chin
  • Sunken cheeks
  • Gastrointestinal issues such as delayed digestion, frequent stomach pain, and bloating
  • Dysregulated bowel and bladder function
  • Poor temperature regulation (can display as Raynaud’s disease)
  • Depression
  • Anxiety, including pronounced phobias
  • Generalized inflammation
  • Poor muscle tone
  • Frequent Dizziness
  • Fatigue

As more studies are done and EDS communities form, we hope to learn more about this disease and its many subtypes. We should not discount the power of shared experiences between EDS sufferers, as this real-world knowledge can be both more valuable and more accessible than general laboratory studies.

EDS, Past & Future––Modern Learning Meets Modern Prognoses

Thanks to modern medicine and the power of social media to connect people from all over the world, we know much more about EDS and hypermobility syndrome than we did just a few years ago.

The prognosis for EDS sufferers––even those suffering from vascular EDS, the most severe and life-threatening form of the disease––is much better than it used to be. There is no cure for EDS, but there are treatments and lifestyle adjustments that can make life easier for people who have this disorder.

On community pages such as the Ehlers Danlos Society Facebook group or the vEDS Movement social accounts, people with EDS share their experiences and gain a sense of validation from the stories of others like them. 

They are also able to share valuable information about treatments and lifestyle choices, whether these are options the general medical community is aware of or not. It isn’t uncommon for physicians and researchers to rely on these shared perspectives for direction when studying EDS and possible treatments for it.

For example, here are some tips that people and communities with EDS have shared.

A physical therapist or personal trainer who is familiar with EDS is another valuable resource, especially in helping to develop an appropriate home exercise program.  Many people with joint discomfort start exercising, only to find that their symptoms get worse. The basic rules of exercise are:

Certain kinds of exercise can worsen symptoms (especially when you have vEDS or pronounced joint/muscular symptoms), while others can improve them. 

Low-impact exercises such as swimming, tai chi, pilates, or some forms of gentle yoga are generally helpful for people with EDS, while high-impact activities such as long-distance running, weightlifting, wrestling, gymnastic, ballet or team sports such as soccer and rugby are more often harmful than useful.

AVOID over stretching. Stretching further strains and loosens joints.  Stretching your hamstrings is OK.

AVOID heavy lifting, pulling, and pushing. 

AVOID hyper-extending your joints.  

DO light resistance exercises, which are the cornerstone of strengthening and stabilization.  Any degree of straining will only lead to injury.  

For weights, a good rule of thumb is that if you can’t do 8 repetitions (reps) without straining, then the weight you have chosen is too heavy for that exercise.  You should not consider increasing weight or resistance level until you can do two sets of 15 reps without straining.  In general, more reps with a lighter weight are preferable to fewer reps with a heavier weight.  Most people find no need for weights heavier than 10 pounds; hand weights of 2 or 3 pounds for some exercises and 5 pounds for others are often sufficient. 

DO be persistent and consistent. Exercise is not a sprint––it’s a marathon!

Diets that help people with high blood pressure or heart conditions also improve symptoms in those with EDS. A heart healthy diet involves cutting out excess sugars, avoiding high quantities of caffeine, improving cholesterol levels, and seeking out non-dairy alternatives to things like coffee creamer and milk. Whole grains, legumes, and of course, fresh fruit and vegetables are all part of a heart-healthy diet. Making sure you have sufficient electrolytes daily is key. At the same time, EDS communities often encourage members to enjoy life and not overdo things when it comes to their diets.

Mental health struggles are a major feature of life with EDS. For both obvious and not-so-obvious reasons (including physiological ones), people with EDS often experience mental health difficulties both before and after diagnosis. On the one hand, those with EDS experience plenty of stress due to their mobility constraints and other symptoms. On another level, there is some evidence that suggests a link between physical/systemic issues like inflammation and the anxiety, depression, and phobias associated with EDS. Seeking out good mental health care is important for an EDS sufferer’s quality of life.

Preventative care allows those with most forms of EDS to live normal, happy lives in spite of their symptoms. We know so much more about EDS than we used to, and it is now easier to enjoy life even if you have vEDS or another severe subtype. People with EDS can have children, enjoy exercise and other hobbies that may have been off-limits before, and look forward to a much higher life expectancy than they would have had a decade ago. Taking the time to learn, adjust one’s lifestyle, and engage in healthy, proven treatments for EDS can prevent major complications from occurring.

There is a great deal of fear involved in getting an EDS diagnosis. Thoughts of a shorter life, potential injuries, and a sense of being a “ticking time bomb” can plague those who learn that they have this condition. But if you or a loved one does have EDS, know this: you’re not alone, and the future is bright and getting brighter every year.

As we raise awareness, share stories, and learn more about EDS, we can both save and improve countless lives. Check out these additional resources, or comment below if you have more questions! 

RESOURCE LIST:

• Ehlers-Danlos Society community resource page
• “Faces of EDS” photo project
• “EDS Toolkit,” courtesy of Ehlers-Danlos Support (UK)
• Advice for managing EDS, courtesy of Canada’s ILC Foundation
• ISSWSH talk, with multidisciplinary focus on EDS
• List of community-approved EDS specialists, organized by country

 

This article was made possible by our partners at The FEM WORD. We’d like to thank the founders and staff of this incredible organization for empowering women and sharing this important knowledge with our audience!