What Is Ehlers-Danlos Syndrome (EDS) & Are You Misdiagnosing It?
By: Luke Gregg, BKin, MScPT student; Maggie Bergeron, BSc, MScPT, Co-Founder of Embodia

A Personal Story

Don’t confuse the dots for the line.

Patient care involves lots of clinical dots that, more often than not, have a relationship.

But it can be very difficult to connect the dots to see the full picture and potential significance of seemingly unrelated symptoms. This happens for many reasons - what the patient is willing to share (or what they think is best to share with a physiotherapist), knowledge of the clinician, time, and resources (including referral network).

I am going to introduce this blog with a personal story.

I have seen dozens of HCPs including specialists, PTs, chiros, and MDs - and no one was able to see the forest for the trees (myself included until recently). So many seemingly unrelated symptoms that, as it turns out, are very much related.

Each specialist and clinician has their own area of focus and expertise, and it can be difficult to see beyond that.

About a year ago I mentioned to my GP that I thought I may have EDS - she did a quick assessment and said ‘yes, you’re very likely right. Has no one ever told you that?’

I smiled (and thought of about a dozen sarcastic comments in return), but instead politely said ‘no, this is the first time I have suggested that this may be the cause of my symptoms.'

Unfortunately, this seems to be a common experience for those with hypermobile type Ehlers-Danlos syndrome (hEDS).

I am 38 years old and have been hypermobile my entire life. I have had many joint subluxations, tendinopathies that never seemed to heal, and the ability to perform an array of ‘fun’ circus tricks for my peers.

I’ve also always had a sensitive GI system - my nickname in elementary and high school was 'skeletor' because, as you may have guessed, I was very thin (I didn't like to eat much and loved playing competitive sports). It turns out that I have Celiac disease (GI conditions are common for those with EDS).

When I started getting UTIs (urinary tract infections) every 2 months I was put on antibiotics after antibiotics. I saw urologists who told me a variety of things including ‘it’s all in your head’ and to ‘stop thinking about UTIs’. Anyone who has ever had a UTI knows that it is incredibly difficult not to think about the pain of a UTI. (Bladder conditions are common for those with EDS)

When I experienced mysterious pain in my MTP joint, my doctor told me that we would likely have to fuse it. (This was a rather large leap to make, would you agree?)

The challenge with EDS is that everyone who has it presents it differently. It's a disease that affects the connective tissue of your body - that stuff that gives your body structure and support.

It’s a condition that you have very likely seen in your clinical practice but may not be aware of. While it is currently considered a rare genetic disease (about 1 in 5000 people have it), it's hypothesized that it is not actually rare, it's just under-diagnosed.

Recently I traveled to Mexico City to see a geneticist who specializes in Ehlers-Danlos Syndrome. He used the Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS), among other tools to make the diagnosis.

I recognize that I am in a privileged position to have the choice to travel and pay for a medical appointment. But through my experience, I am hoping that I will be able to contribute to the knowledge and awareness of HCPs of this condition.

This was one of the best healthcare appointments I have ever had:

Quick response times
Phone call with the geneticist before committing to the appointment
2+ hours spent with the geneticist & his resident
Full genealogy & clinical assessment
A compassionate listening ear & no interruptions
A diagnosis that involved him looking me straight in the eyes & saying “Maggie, you do have hypermobility Ehlers-Danlos Syndrome. Welcome to the club. A diagnosis can be a significant moment in which we allow ourselves to begin to heal, rather than searching for answers.”
A lengthy discussion about other important diagnostic tests to do in Canada to make sure critical systems (such as heart and spine) are not impacted
A wide-ranging discussion about management strategies
An invitation to his open-door policy - contacting him by phone, WhatsApp, or email at any time

All for $1500 pesos (or $95 CAD)

Since I initially wrote this blog in May 2022, new evidence has emerged that suggests that EDS may be driven by a polymorphism in the MTHFR gene that leads to high levels of unmetabolized folate (and a deficiency of the active form of folate). You can read more about this new, and potentially life-altering discovery, in this article.

I will now hand it over to Luke, a second-year University of Toronto physiotherapy student who is completing a placement with us at Embodia. He's researched and written this blog for you with the goal of educating and informing about this potentially under-diagnosed condition that you likely have seen in the clinic.

I will wrap up the blog in the conclusion with a few of more personal tidbits.

Sincerely,

Maggie Bergeron
PT, Co-Founder of Embodia

Outline:

What Is Ehlers-Danlos Syndrome
Causes of Ehlers-Danlos Syndrome
Signs & Symptoms of Ehlers-Danlos Syndrome
EDS Clinical Presentations
Management of Ehlers-Danlos Syndrome:
- Pharmaceutical Management
- Surgical Management
Physiotherapy Assessment of EDS:
- Red Flag Assessment
- Subjective Assessment
- Objective Assessment
Physiotherapy Management
Conclusion

What is Ehlers-Danlos Syndrome?

Although it may sound like a single condition, Ehlers-Danlos Syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing, and easy bruising. 14 different types of EDS are recognized, of which the molecular cause is known for 13 types. Most of the disorders affect the genes responsible for the body’s ability to produce collagen, a protein important for maintaining tissue structure.

This results in many signs and symptoms of the skin, joints, blood vessels, as well as other body systems that use collagen.

Causes of Ehlers-Danlos Syndrome

EDS can develop from a new mutation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Although all EDS disorders are inherited, the specific etiology depends on the EDS type. In all but one subtype (hypermobile EDS), specific genes have been identified as the cause.

The 13 types with a known molecular cause are caused by variants in 20 different genes, the majority of which encode the fibrillar collagen types I, III, and V modifying the processing of enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans.

The geneticist that Maggie saw in Mexico City said that there is great excitement among the EDS community as a big announcement is expected at the upcoming International Scientific Symposium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

Signs & Symptoms of Ehlers-Danlos Syndrome

As connective tissue is ubiquitously distributed throughout the body, manifestations of the signs and symptoms of EDS can present in virtually every organ system. This can make these disorders particularly challenging to diagnose and manage.

Some of the more commonly reported include:

Joint and Muscle Related Symptoms

Joint hypermobility
Joint and muscle pain
Frequent sprains
Dislocations
Spinal curve changes such as scoliosis or kyphosis

Skin Related Symptoms

Soft velvety-like skin
Skin hyperextensibility
Fragile skin that tears or bruises easily
Slow wound healing

Some people with EDS may also experience cardiovascular issues such as arterial fragility, gastrointestinal issues, or bowel/bladder problems. Cognitive challenges such as difficulty concentrating or persistent fatigue have also been reported.

EDS Clinical Presentations

Clinical presentation of Ehlers–Danlos syndrome (EDS)

Image source: Malfait et al., 2020

Management of Ehlers-Danlos Syndrome

The treatment of EDS usually involves a multidisciplinary approach. As there is currently no cure for the disease, treatment generally focuses on slowing disease progression, symptom management, and prevention of secondary complications. Medical treatment may involve pharmaceutical management or surgery.

Pharmaceutical management

NSAIDs for inflammation and minor pain
Opioids may be used for chronic pain management

Surgical management

Joint instability leading to subluxations and joint pain may require surgical intervention
Surgical procedures may include joint debridement, tendon transfers, and arthroplasty
Surgery may also be required for those with serious cardiovascular complications

Additionally, physical therapy is now widely considered one of the mainstays of EDS management.

Physiotherapy Assessment

Red Flag Assessment

In the initial assessment, it is important for physical therapists to rule out other conditions which may be present similarly to EDS such as Marfan syndrome, Osteogenesis Imperfecta, or Loeys-Ditz. If any of these conditions are suspected, the patient should be referred to follow up with a physician.

Additionally, if the patient demonstrates a racing heart rate, low blood pressure, gastrointestinal problems, or bowel/bladder problems that are not already being monitored by a physician, a referral is warranted.

Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome

Click here to download a PDF that you can use in your assessment. This PDF outlines the diagnostic criteria for hEDS.

Subjective Assessment

The subjective assessment for a person with EDS will include all of the standard components such as:

History of presenting illness
Past medical history
Medications
Prior interventions including what has/hasn’t worked
Social history
Functional history and difficulties
Pain assessment including location, characteristics, irritability, and severity

Additionally, when assessing a person with EDS, it is also important to gather information on the following:

Dislocation/subluxation history
Presence of fatigue
Presence of dizziness
Digestive issues
Most problematic areas for treatment prioritization

Objective Assessment

Similar to the subjective assessment, much of the objective assessment of someone with EDS will include standard physiotherapy objective measures.

Some of the most important measures to include are:

Postural Analysis

Posture should be analyzed from the front, back and both sides; generally the physiotherapist should look for signs of joint hypermobility or instability such as hyperextended knees, flat feet, and so on.

Range of Motion Testing

ROM testing should be completed around each joint, including those of the spine. Attention should be paid towards finding joints where there is apprehension to movement, reproduction of symptoms, or excessive mobility.
The Beighton score is a popular screening technique for generalized hypermobility. The Beighton score is included on the diagnostic criteria PDF, which was included previously and is here again in case you missed it.

Strength Testing

Muscle strength assessment is very important when evaluating a person with confirmed or suspected Ehlers-Danlos Syndrome. Making sure that muscles surrounding hypermobile joints have enough strength to provide support can be helpful when developing a treatment plan.

Proprioceptive Testing

People with Ehlers-Danlos Syndrome have been found to have poorer proprioceptive performance than their age-matched counterparts. This combined with the associated hypermobility may increase injury risk significantly. Testing should include static (position sense) as well as dynamic (kinesthesia) assessments.

Mobility Testing

Objective assessment should include some form of functional mobility assessment. For most people, this will include a gait assessment looking for deviations from the norm. For some people with more serious cases, assessment of transfers may provide information on functional independence.

Cardiorespiratory Assessment

Assessment of aerobic fitness and respiratory function is sometimes indicated as people with EDS may report respiratory symptoms such as shortness of breath or exercise limitation.

Physiotherapy Management

The approach for Ehlers-Danlos Syndrome management should be individualized as every person with EDS will have unique manifestations. As is true with treating any other population, the management plan for EDS should be based on the relevant findings from the objective assessment.

With that being said, some strategies that can help with common signs and symptoms include:

Pain management strategies

Modalities
Manual therapy
Pacing and activity monitoring

Proprioception training
Inspiratory muscle training
Graded aerobic exercise
Strength training

Muscles surrounding hypermobile joints
Large leg muscles such as the glutes and quads

Joint bracing
Balance training
Mobility aid prescription

If you would like to learn more about the management of conditions causing joint hypermobility, Assessing & Treating Dancers and Artistic Athletes by Geneviève Renaud is a great next step. Week 4 of this online course provides a deep dive into various causes of hypermobility and how to treat them if indicated!

Conclusion

Having a chronic condition or chronic pain can be very isolating and confusing, but it doesn't have to be. Having a healthcare team that has been selected by the patient and who provides the care that they need and find effective, can drastically change someone's experience. It can take months or years to find the right team, and I believe it's an ongoing process.

On the note of treatment, the most effective form of care I have ever received is myofascial work. Before you start writing me an email about the lack of evidence for this approach, please keep in mind I am sharing my own personal experience - and the most important metric in healthcare is N=1, right?

I have taken many myofascial courses, and have found the most effective to be those that teach a holistic, gentle approach. Ones that teach how to respect someone's nervous system and that takes a biopsychosocial approach in manual therapy.

I have also taken several of Eric Franklin's embodied movement and imagery courses which changed the way I exercise and the way that I teach exercise to my patients. Carolyn Vandyken has put together a resource package on Embodia that contains embodied movements you can use with your patients.

Along with myofascial work and mindful movement, I have found that the most effective combination of care for me includes meditation, acupuncture, physiotherapy, rock climbing, swimming, proper sleep and nutrition, time in nature, and a supportive group of friends.

Finally, I'd like to leave you with this quote (unknown source):

"To encounter another human is to encounter another world."

Every patient that we encounter is unique, and every person has a wide range of unique experiences, opinions, values, and beliefs. Respect them and perhaps you can even learn something from them.

Resources:

Week 4 in Assessing & Treating Dancers and Artistic Athletes
Week 5 in The Performer’s Pelvis: Managing Pelvic Floor Dysfunction in Dancers and Artistic Athletes
Resource Package - Novel Exercises for a Sensitive Nervous System by Carolyn Vandyken
The Ehlers-Danlos Society
The hypermobility MD

References:

Written May 2022
Last updated April 25, 2023

What Is Ehlers-Danlos Syndrome (EDS) & Are You Misdiagnosing It? By: Luke Gregg, BKin, MScPT student; Maggie Bergeron, BSc, MScPT, Co-Founder of Embodia