Ehlers-Danlos syndromes (EDS)

Ehlers-Danlos syndromes are inherited from your parents, which means you are born with the condition. The type of syndrome you inherit is always the same — if your parent has a certain type, that is the one you will inherit. 

EDS affects the collagen in all organs, with the most common symptoms occurring in your connective tissues:

• skin
• muscles
• tendons and ligaments.

If you have EDS, your connective tissues can stretch more than other people. This can lead to injury, strain, organ prolapse or blood vessel rupture depending upon the type of EDS you have inherited. 

There are different types of EDS. Twelve types of EDS are due to genetic collagen alterations. The most common collagen type is classical EDS. The second most common collagen type is vascular EDS.

Types of EDS and how they are inherited — Ehlers-Danlos Syndromes Aotearoa New Zealandexternal link

The most common effects are:

• joints that move more than normal (joint hypermobility)
• very soft, stretchy skin
• easily damaged tissue.

Hypermobile EDS (Hypermobile Spectrum Disorder, HSD) is not due to a collagen alteration and is covered separately.

Hypermobile EDS (Hypermobile Spectrum Disorder, HSD)

Because EDS is a collective term for a variety of disorders, each person with EDS may experience different symptoms. There are common symptoms of the EDS subtypes.

Classical EDS

Symptoms include:

• stretchy skin
• stretchy joints
• joint dislocation.

There will be a family history of the same.

Vascular EDS

Symptoms include:

• translucent skin with prominent veins
• large blood vessel aneurysm (blood vessel stretching), or large blood vessel rupture in the affected person or their family (for example, brain aneurysm, aortic aneurysm, carotid artery dissection)
• uterine rupture.

There will be a family history of the same.

Brittle cornea syndrome (an eye condition)

There will be:

• a thin cornea
• keratoconus
• risk of eyeball rupture or retinal detachment.

There will be a family history of the same.

All other EDS types

Symptoms include:

• stretchy skin
• stretchy joints
• joint dislocation.

Diagnosing EDS can take time because symptoms are similar to symptoms of many other conditions. Your healthcare provider might not think to check for EDS because these syndromes are rare. It is important to talk to your healthcare provider and explain your concerns. Tell them about:

• any symptoms in other members of your family
• your history of past injuries or illness.

They will look at your skin and how flexible your joints are. There are checklists they can use and a score for joint hypermobility (too much mobility or flexibility) that will help with the diagnosis.

They may suggest tests such as:

• genetic testing
• echocardiograms
• other imaging tests to look at your joints and blood vessels
• referral to radiology or vascular specialists for screening if you have 2 or more first degree relatives with brain aneurysm.

Life expectancy is normal for most people with EDS, except for those with vascular EDS. If you have vascular EDS, you may need long-term care from specialist doctors. You are likely to get the most benefit from seeing several different health professionals. Each will help in their own way.

• A counsellor helps you learn to live with a long-term condition and deal with symptoms such as pain.
• Your healthcare provider can help with pain management such as prescribing medication such as pain relief for injuries, or referring you to a pain clinic or physiotherapist.
• A genetic counsellor helps you understand how you inherited EDS and how other whānau could be affected. A common question can be how EDS can be passed on to your current or future tamariki.
• An occupational therapist helps you manage your daily activities.
• A physiotherapist helps you strengthen your muscles and joints. They need to know you have EDS as some exercises can cause more damage. They might suggest wraps or braces to protect your joints.
• A dietitian helps support you to eat well, manage your nutrition and help with any associated DGBI (disorder of gut-brain interaction) symptoms.

Rarely you may need surgery which may help make your joints more stable.

There are several ways to manage your symptoms and improve your quality of life. These include:

• doing low-impact exercise to increase joint stability and reduce pain
• avoiding activities that may cause injury or stress to joints, such as contact sports
• wearing wraps or braces to protect your joints
• keeping a healthy lifestyle and weight to reduce stress on your joints
• wearing protective clothing and sunscreen to prevent skin injury.

It may be helpful to meet other people who have EDS. Consider contacting support groups and online communities.

Regional support hubs — Ehlers-Danlos syndromes Aotearoa New Zealandexternal link