What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. EDS mainly affects your joints, skin and blood vessel walls. Read more on connective tissue diseases. Most types of EDS are rare, but the hypermobile EDS type is thought to be the most common. Hypermobile EDS is a multi-system disorder which can affect health in various ways and can cause multiple symptoms.

Each type of EDS has its own genetic causes and unique symptoms.

What causes Ehlers-Danlos syndrome?

Most types of Ehlers-Danlos syndrome have a genetic cause.

For more information on how genes affect your health, read the guide to genetic disorders.

What are the symptoms of Ehlers-Danlos syndrome?

While each type of EDS has its own unique symptoms, symptoms common among the different types of EDS include:

• flexible and loose joints — being ‘double-jointed’ (hypermobility)
• stretchy skin (skin hyperextensibility)
• fragile skin, that bruises easily or heals poorly

Other symptoms can include:

• chronic musculoskeletal pain (pain that affects bones, joints or muscles)
• fatigue
• cognitive impairment
• clumsiness or poor coordination
• muscle weakness
• headaches
• anxiety
• gastrointestinal problems

Some people with EDS have distinctive facial features such as a thin nose, thin upper lip, large eyes and ears without lobes.

When should I see my doctor?

You should see your doctor if you have symptoms associated with EDS. It’s important to remember that most of these symptoms will have another cause.

If your doctor thinks you might have EDS, they may refer you to a geneticist for testing.

How is Ehlers-Danlos syndrome diagnosed?

Your doctor will first assess you by:

• asking about your symptoms
• asking about your personal and family medical history
• doing a physical examination

You might be referred to a specialist doctor such as a Rheumatologist or a Geneticist. Some types of EDS (usually the rarer types) can be tested with genetic testing via a blood test. There is no gene testing available for the more common type (hypermobile EDS (hEDS))

How is Ehlers-Danlos syndrome treated?

As there is no cure for EDS, treatment focuses on managing your symptoms and complications. It can include:

• pain management
• physiotherapy treatment to
  • help manage joint hypermobility
  • provide joint support
  • develop a low impact exercise program to develop strength
  • provide education on injury prevention
  • rehabilitate from injury
• assistive or mobility devices to help manage everyday tasks

You should be careful when doing activities that can put stress on your joints and increase the risk of injury, such as contact sports.

You may be cared for by a team of specialist doctors and allied health professionals including:

• occupational therapists
• podiatrists
• psychologists
• dietitians
• physiotherapists

Your healthcare team will provide you with education about EDS to help you advocate for yourself and get the care you deserve.

Your doctor may work with you to create a chronic disease management care plan, to help you access a Medicare rebate for allied health services. You may also be eligible for NDIS funding to help with the costs of treatment.

Complications of EDS

Some of the problems associated with EDS, such as joint dislocations and other symptoms, tend to get worse over time. Maintaining your health and wellbeing, in partnership with your medical team, may reduce or slow the rate of any complications.

Resources and support

• For help and support for people with EDS, contact Connective Tissue Disorders Network Australia (CTDNA).
• You can read more about genetic conditions and genetic counselling at NSW Centre for Genetics Education Genetic Alliance Australia.
• Contact Pregnancy, Birth and Baby for information on genetic counselling or call 1800 882 436 for advice, support and guidance.