Joint Hypermobility and Ehlers-Danlos Syndrome 

Joint hypermobility affects at least 10% of the general population to some degree and means that a person’s joints move too far and too easily. People with joint hypermobility can often do tricks like bend their thumbs forwards to touch their forearms or put their palms flat on the floor without bending their knees. These people are often referred to as having “loose joints” or being “double jointed.”

Interestingly, most hypermobile people do not develop any problems from their loose joints, in fact some people – such as ballet dancers and gymnasts, may even benefit from the increased flexibility!

Some people, however, can develop unpleasant symptoms due to their joint hypermobility. This can include recurring pain in multiple joints, pain in their muscles or fatigue (extreme tiredness). If hypermobility occurs alongside symptoms such as these, it is known as Joint Hypermobility Syndrome (JHS). This can include a diagnosis of hypermobile type Ehlers-Danlos Syndrome (h-EDS), the most common form of Ehlers-Danlos Syndrome (EDS).

This year, singer-songwriter Sia revealed to fans on twitter that she has EDS. The “Chandelier” singer is not alone in her diagnosis. Internationally, the syndrome is believed to affect 1 in every 2,500 to 5,000 people, although there are suggestions that it is actually much more common than this, with many people not reporting their symptoms, or receiving a diagnosis. So what is EDS and how can a Physiotherapist help?

What is Ehlers- Danlos Syndrome (EDS)?

EDS is an inherited disorder that affects the body’s connective tissue, the tissue that provides support to the skin, bones, tendons, ligaments and blood vessels. People with EDS have faults in their genes that cause problems with their collagen, the protein that acts as a “glue” to add strength and elasticity to connective tissue.  As a result, the connective tissue can be pulled beyond normal limits.

EDS is generally characterised by joint hypermobility, skin hyperextensibility (skin that can be stretched further than normal) and tissue fragility (skin that tears or bruises easily and wounds that take longer to heal). There are 13 types of EDS and each vary in their genetic causes. As a result, each person with EDS is affected differently and often in multiple ways.

What does EDS feel like?

The signs and symptoms of EDS are most often joint and skin related and can have a significant impact on daily function and quality of life.

Individuals with EDS may experience:

  • Joint hypermobility
  • Loose/unstable joints which are more likely to be sprained or dislocated
  • Chronic joint pain and stiffness, most often in larger joints (neck, shoulders, back, hips, knees) as well as smaller joints (ankles, wrists, elbows)
  • Early onset of osteoarthritis
  • Soft velvety-like skin
  • Fragile skin that tears or bruises easily
  • Slow and poor wound healing

EDS can also branch out and affect other bodily systems that seem mysterious and unrelated. Other conditions that can occur include:

  • Mitral valve prolapse, heart arrhythmias
  • Uterine prolapse
  • Hernias
  • Gastroesophageal reflux disease (GERD)
  • Irritable Bowel Syndrome
  • Temporomandibular Joint Dysfunction
  • Depression and anxiety
  • Developmental Coordination Disorder (in children)
  • Autonomic nervous system deregulation (low blood pressure, fainting)

As EDS can often masquerade as a variety of other illnesses, it remains misunderstood and underdiagnosed. In fact, most EDS patients spend an average of 20 years before finding a diagnosis!

How can Physio help manage EDS?

As EDS is a genetic disorder, it has no cure. Treatment is important however, to relieve the associated signs and symptoms and prevent serious complications.

A Physiotherapist can help by prescribing exercises that aim to increase muscle strength and provide stability to joints to avoid pain and improve function. Weight-bearing exercises in particular, are crucial to help maintain bone density and muscle tone. A Physiotherapist can also provide advice around how to stay active while minimizing stress on the body and where appropriate, direct patients to assistive devices such as braces and splints to help support joints and scooters and wheelchairs to aid mobility.

What other types of treatment can help manage EDS?

A patient with EDS may see a range of other health professionals to help manage their condition. A Doctor will monitor patients for associated complications and prescribe important medications. This may include pain-medication to relieve muscle or joint pain, blood-pressure-lowering medication to reduce stress on fragile blood vessels and supplements such as calcium and vitamin D to increase bone density.

Other health professionals might include a pain specialist, dermatologist, rheumatologist, occupational therapist and psychologist.

EDS in the Media

‘We live in constant fear’: the reality of life with Ehlers-Danlos syndromes, The Guardian, published 5th November 2019

Sia reveals she has rare Ehlers-Danlos Syndrome, ABC News, published 6th October 2019

Need help?

If you’d like to see one of our Physiotherapists, you can:

References

2012, ‘Ehlers-Danlos Syndrome’, in H Chen (eds) Atlas of Genetic Diagnosis and Counselling, New York, NY, pp. 705–717.

Christophersen, C & Adams, JE 2014, ‘Ehlers-Danlos Syndrome’, Journal of Hand Surgery, vol. 39, no. 12, pp. 2542–2544.

Pocinki, AG, 2010, Joint Hypermobility, Washington.

Tinkle, B, Castori, M, Berglund, B, Cohen, H, Grahame, R, Kazkaz, H & Levy, H 2017, ‘Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history’, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 48–69.

U.S. National Library of Medicine 2019, Ehlers-Danlos syndrome, Genetic Home Reference, viewed 28 October 2019,   <https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome>.

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