Ehlers-Danlos syndrome

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of conditions caused by your body producing weak or not enough collagen. As the function of collagen is to maintain support across the connective tissues in your body, having the condition can result in overly flexible joints and fragile skin.

There are up to 13 different types of EDS depending on the type of collagen that’s affected. Each has unique symptoms. The most common ones are:

Hypermobile 

This is the most common type of EDS, where the patient will have joint hypermobility and soft and stretchy skin. Some patients will also have heart palpitations, headaches, nausea and tremors.

Classical

The most common symptom is smooth, stretchy skin that cracks and splits easily.

Vascular

This is the most dangerous form but it is also rare, as the defective collagen in the blood vessels can cause them to be fragile and break easier. If you have vascular EDS, you’ll need to be monitored closely in case of internal bleeding 

Kyphoscoliotic 

This rare type of EDS affects babies – they can be born ‘floppy’ and have a gradual curvature of the spine as they grow

What are the symptoms of Ehlers-Danlos syndrome?

Although the symptoms of EDS depend on the specific subtype, the general symptoms can include:

• Hypermobile joints – these are most noticeable when stretching your elbows out or being able to pull your thumb all the way back to touch the forearm

• Joint pain after exercise

• Joints dislocating easier 

• Soft, stretchy skin

• Bad wound healing

How common is Ehlers-Danlos syndrome?

Doctors estimate that around 1 in 5,000 people have one of the subtypes of the syndrome.

What causes Ehlers-Danlos syndrome?

The condition is caused by a mutation in one of your genes that’s responsible for creating collagen. This is a protein that maintains the strength and integrity of many tissues in your body, including the skin, joints, organs, blood vessels and even the tissue that supports these organs, known as connective tissue.

 EDS is a genetic condition, usually passed on if one of your parents has EDS. Some subtypes require both parents to have the faulty gene to inherit the condition. 

In some cases, these genes can turn faulty at random without the need of a parent with EDS, although this is unlikely.

How is Ehlers-Danlos syndrome diagnosed?

Joint hypermobility is the most common symptom but this doesn’t guarantee that you have EDS. 

If you suspect that you have EDS, speak to a doctor who can help to identify it. If they suspect you have EDS, they will refer you to a specialist, who will ask you a few questions about you and your close family, look at your joints and may even carry out a genetic blood test

They will also perform a test known as the diagnostic criteria for hypermobile EDS, which is a checklist to help diagnose EDS and its severity. A section of this criteria is the Breighton score, which looks at the amount of joint hypermobility and excludes other conditions that may cause your symptoms.

How is Ehlers-Danlos syndrome treated?

Sadly, EDS can’t be cured but there is support available. This includes:

• Close monitoring of any complications, as there is more wear and tear of the joints and a higher risk of osteoarthritis

• Physiotherapy to strengthen and stabilise your joints and help you learn to maintain a good posture

• Occupational therapy to improve function

• Medication to help with pain and reduce blood pressure

• The doctor will also make sure you’re not taking any anticoagulants and antiplatelet medication to avoid any further risk of bleeding from weak vessels

It’s also very important to be mindful of the impact of exercise on your joints, so speak to a doctor about what they may recommend for you. Swimming and pilates are great low-impact exercises and can reduce the strain on your joints. 

When should I speak to a doctor about Ehlers-Danlos syndrome?

If you think you have EDS, it’s a good idea to talk to a doctor. Early treatment, education and taking precautions often leads to a better quality of life for people with the syndrome, so get it checked sooner rather than later.

If you’ve been diagnosed with EDS and feel like you need support or help coping with the symptoms, speak to a healthcare professional who can help. 

Always speak to a doctor if you have any of the following symptoms:

• Sudden pain or bruising in your chest or abdomen

• Repeated joint injury

• Pain in your joints

What can Livi do?

Livi’s healthcare professionals can discuss your symptoms and refer you to a specialist for a diagnosis and support plan if needed.