What is Ehlers-Danlos Syndromes (EDS)?

EDS are a group of genetic connective tissue disorders caused by issues in the structure, production, and/or processing of collagen. Collagen is what gives connective tissue its strength, and when it’s not being produced correctly it can cause issues.

EDS affects the connective tissues of the body. These are the tissues that hold together our joints, muscles, blood vessels and internal organs. EDS is charcterised by joint hypermobility, skin hyperextensibility, and tissue fragility.

Multiple types of EDS exist, some are extremely rare and not well understood. The syndromes vary in how they affect the body. Some people may have mildly loose joints, while others can have to life-threatening complications. Many different areas of the body can be affected.

Symptoms

Symptoms can be different depending on the person and the part of the body. But, can include:

  • Joint hypermobility – people with EDS often have unusually flexible joints that extend beyond the normal range of motion. This hypermobility can lead to joint instability, frequent dislocations, and chronic pain.
  • Skin Hyperextensibility – people with EDS may have stretchy, fragile skin that is prone to tearing, bruising, and scarring. Skin hyperextensibility is a distinct feature of certain EDS subtypes.
  • Joint instability – where the joints surfaces can separate and cause a lot of pain and discomfort.
  • Dislocations – where a full separation of the surface of a joint occurs.
  • Tissue Fragility – people can have very soft skin that is highly elastic and stretchy. Also, connective tissues affected by EDS may be fragile and prone to injury, leading to problems such as easy bruising, slow wound healing, and internal organ prolapse (extreme & rare cases).
  • Skin that can bruise very easily, and abnormal scarring.
  • In some cases, EDS can cause weak tissues in specific groups, for example in the mouth or eyes.

What causes it?

EDS is primarily caused by genetic mutations that affect the structure and function of collagen, a key protein in connective tissues throughout the body and can cause them to become weaker.

Collagen provides strength and support to various tissues, including skin, joints, blood vessels, and organs. Mutations in specific genes responsible for collagen production can lead to abnormalities in connective tissue, resulting in the characteristic features of EDS.

How is it diagnosed?

Diagnosing EDS can be challenging due to its wide range of symptoms and overlapping features with other conditions. A visit with your GP can help with a diagnosis, they might do a thorough medical history, physical examination, and genetic testing to confirm a diagnosis.

The GP will test the skin elasticity and joint flexibility. Imaging tests can look for other signs and complications of EDS. A blood sample may be taken for genetic testing, which helps confirm the diagnosis

Management of EDS focuses on symptom relief, injury prevention, and supportive care.

What can I do to manage EDS?

There is currently no cure for Ehlers-Danlos Syndromes. Treatment and management aims to prevent complications and to relieve symptoms.

  • Talk to your doctor about medicines – some medicines may help with problems with joints and muscle pain.
  • Look into using assistive devices – these can include wheelchairs, scooters, splinting and braces.
  • Skin Care – proper skin care is essential for people with EDS to prevent injury, minimise scarring, and promote wound healing. Moisturising creams, protective clothing, and gentle handling of the skin can help maintain skin integrity and reduce the risk of complications.
  • Talk with an exercise professional – they can prescribe exercises to strengthen muscles to support unstable joints. Physical therapy can also help strengthen muscles, improve joint stability, and improve mobility. Specialised exercises and techniques may be tailored to address specific joint issues and reduce the risk of injury. It is important to always speak with your GP before starting new exercises.
  • Acknowledge your feelings and seek support – It is natural to feel scared, frustrated, sad and sometimes angry. Be aware of these feelings and get help if they start affecting your daily life.
  • Surgery – in some cases surgery may be discussed to help repair joints damaged by repeated dislocations, as well as addressing joint instability, correct deformities or reduce pain often association with EDS-related musculoskeletal issues.
  • Self Care – work with your GP to make a treatment plan for health and longevity. Practising self-care may include
    • avoiding contact sports, heavy lifting, injuries and falls,
    • cleansing the skin with mild soaps and using sunscreen when outdoors
    • practising meditation and other stress-reliving exercises like tai chi (or modified yoga).

Our friends at Arthritis & Osteoporosis Western Australia have a great story and article on EDS here

Source:

The Ehlers-Danlos Society. What are the Ehlers-Danlos syndromes?. n.d. https://www.ehlers-danlos.com/what-is-eds/ 

National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center. Ehlers-Danlos Syndromes. 2017. https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

Arthritis Foundation. Ehlers-Danlos Syndrome. n.d.  https://bit.ly/3OroxeE 

Updated March 2024