Everything you need to know about Ehlers-Danlos syndrome

Current research on Ehlers-Danlos syndrome shows that it affects 1 in 2,500 to 1 in 5,000 people worldwide. However, new clinical studies suggest that the prevalence of this rare condition may be more common than is currently thought, especially with the more common hEDS subtype, possibly affecting at least 1% of the UK population. Other subtypes of Ehlers-Danlos syndrome are considered rare with only a few cases recorded in medical literature.

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndromes (EDS) are a group of hereditary connective tissue disorders. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity in your skin, tendons, ligaments, blood vessels, internal organs and bones. EDS is characterised by a defect in the structure, production or processing of collagen. Collagen is a crucial protein in connective tissues. 

There are several subtypes of Ehlers-Danlos syndrome, with each type having its own specific features and symptoms. The different subtypes are classified based on specific clinical and genetic criteria.

Who does Ehlers-Danlos syndrome affect?

As EDS is a genetic condition, people with a family history of the syndrome are at a higher risk of developing it. However, new genetic mutations can also occur, leading to cases in people with no family history of the condition. 

What causes Ehlers-Danlos syndrome?

The different types of EDS are caused by changes in certain genes that make connective tissue weaker. The faulty gene may have been inherited from one parent or both parents, depending on the type of EDS. Sometimes the faulty gene is not inherited and occurs for the first time in the affected person. 

When there is a fault in the genes responsible for producing collagen, this creates problems for the functioning of connective tissue as collagen is a key component. Collagen provides strength and elasticity to tissues in the body. There are different types of Ehlers-Danlos syndrome, and each type is associated with specific genetic mutations with each affecting collagen production. 

EDS is usually inherited, but it can happen by chance in someone without a family history of the condition. EDS can be inherited by:

• Autosomal recessive inheritance – the faulty gene is inherited from both parents and there’s a 1 in 4 chance of each of their children developing the condition.
• Autosomal dominant inheritance – the faulty gene that causes EDS is passed on by one parent and there is a 1 in 2 chance of each of their children developing the condition.

Only the same type of EDS can be passed on to a child; however, the severity of the condition can vary within a family. 

What are the different types of Ehlers-Danlos syndrome?

There are several different types of EDS, most of which are rare. Some of these include:

• Hypermobile EDS (hEDS) – this is the most common type of EDS. People with hypermobility EDS usually have joint hypermobility and musculoskeletal pain, and often experience chronic fatigue. Skin issues are usually mild compared to other types of EDS.
• Classical EDS (cEDS) – this type of EDS is characterised by hypermobility of the joints, smooth, velvety skin that is easily bruised, and can split easily, wounds that are difficult to heal, and atrophic scars which develop as a result of the skin being unable to regenerate tissue correctly. With this type of EDS, you are more prone to hernias and organ prolapse. Joint dislocations and subluxations are common in people with classical EDS. Classical EDS (cEDS) is less common than hypermobile EDS and tends to affect the skin more.
• Vascular EDS (vEDS) – this is a more severe type of EDS which can lead to life-threatening complications. It is characterised by fragile blood vessels and organs, which can lead to rupturing of the organs and arteries. Thin skin is often seen with visible small blood vessels, particularly on the upper chest and legs and also fragile blood vessels that can bulge or tear, resulting in serious internal bleeding. There is a risk of organ problems, such as the bowel tearing, the womb tearing in late pregnancy and a partial collapse of the lung. People with vascular EDS are also at a greater risk of developing serious cardiovascular problems.
• Arthrochalasia EDS (aEDS) – this rare type of EDS is characterised by severe joint hypermobility and congenital hip dislocation. People with arthrochalasia EDS may also have hyper-elastic skin and skin that may bruise easily.
• Kyphoscoliotic EDS (kEDS) – this type of EDS is severe and is characterised by severe low muscle tone at birth, progressive scoliosis, and joint hypermobility. Weak muscle tone may cause a delay in sitting and walking; curvature of the spine is also seen, which starts in early childhood and often gets worse in the teenage years. People with kyphoscoliosis EDS may also have fragile skin and a risk of having eye issues.
• Dermatosparaxis EDS (dEDS) – this extremely rare type of EDS is characterised by severe skin fragility, sagging of the skin, and skin that easily bruises. Joint hypermobility is also usually present.
• Brittle Cornea Syndrome (BCS) – BCS is sometimes considered a subtype of EDS, although it is distinct in its associated symptoms. It is characterised by thin corneas that may rupture easily, usually leading to vision problems.

What are the symptoms of Ehlers-Danlos syndrome?

There are several subtypes of Ehlers-Danlos syndrome, each with its own specific features and symptoms. The severity of symptoms can vary widely among people with EDS, even among those with the same subtype. EDS can affect people in different ways. For some, the condition is relatively mild; however, for others their symptoms can be completely disabling. Some of the rare, more severe types of EDS can be life-threatening.

Some common symptoms and signs of EDS may include:

• Skin that is hyper elastic (stretchy), becomes easily bruised and may be translucent.
• Blood vessels that are fragile, which can lead to the skin becoming easily bruised and bleeding.
• Joint hypermobility. There may be an increased range of motion in the joints, making them more prone to dislocations and subluxations.
• Chronic joint and muscle pain.
• Gastrointestinal issues, such as irritable bowel syndrome (IBS).
• Cardiovascular problems in some subtypes of EDS.

Hypermobile EDS (hEDS) is the most common type. People with hEDS may have the following symptoms:

• Joint hypermobility.
• Joint pain and clicking joints.
• Unstable joints that may dislocate easily.
• Extreme tiredness.
• Skin that bruises easily.
• Digestive problems, for example heartburn and constipation.
• An increased heart rate or dizziness after standing up.
• Issues with bladder control.
• Problems with internal organs.

If you have joint hypermobility but you do not have any other symptoms, you are unlikely to have EDS as joint hypermobility is common, affecting about 1 in every 30 people. 

Living with Ehlers-Danlos syndrome

EDS can vary widely among people. What works for one person may not work for another person. Living with EDS can present unique challenges, as it can affect the skin, joints and blood vessels. The different types of EDS each have their own set of symptoms and severity levels. Some general advice for living with EDS is:

• Pain management – this may involve some trial and error in managing pain, and working closely with your healthcare professional to get the correct advice and support will be an important aspect of this.
• Avoiding activities that may put you at risk – you may be advised to avoid some activities entirely, such as heavy lifting and contact sports. Engaging in low-impact exercises, such as swimming or stationary cycling may be of benefit, as this can help to maintain joint flexibility and muscle strength.
• Learn the best ways to protect your joints – learn joint protection techniques in order to avoid excessive strain on your joints. You could use devices like braces, splints or canes if these are recommended by your healthcare provider.
• Lead a healthy balanced lifestyle – this includes being as active as possible for your capabilities, eating a healthy balanced diet and getting enough good quality sleep. You should avoid overexertion, as fatigue can make symptoms worse.
• Stay informed – make sure you understand about your specific type of EDS and work closely with your healthcare team to manage symptoms effectively.
• Adaptions at home – you can consider making adaptions at home if this is needed. Modifying your living space could reduce the risk of falls or joint injuries.
• Consider counselling or therapy – this can help to manage the emotional impact of living with a chronic condition.
• Prioritise your emotional wellbeing – seek support from friends, family or support groups who understand your condition. The Ehlers-Danlos Society provide details of support groups and charity organisations in various parts of the UK.

Early diagnosis and management of the condition are important for people with EDS, as this can help prevent or minimise the impact of symptoms and complications and can improve outcomes. With the right care and support, people with EDS can live full and meaningful lives. 

How is Ehlers-Danlos syndrome diagnosed?

If you have more than one troublesome symptom of EDS, you should make an appointment with your GP. If you have a few symptoms but they are not causing you any problems, you do not need to worry. 

If there’s a possibility you may have one of the rare types of EDS, your GP can refer you to your local genetics service where they can do an assessment. This may involve them asking about your medical history and your family history and asking about and assessing your symptoms. To confirm a diagnosis, you may need to have a genetic blood test or skin biopsy. 

In some cases you may be referred to the EDS National Diagnostic Service which is a highly specialised service commissioned by NHS England. The service is for individuals and families who are suspected of having complex Ehlers-Danlos syndrome. The aims of the service are to:

• Correctly investigate and diagnose cases where there are suspected rare EDS types.
• Develop guidelines and plan care for the different types of EDS.
• Provide information and support for patients and carers of patients with EDS.
• Conduct research for rare types of EDS.

If you are referred to the service you will also be seen by a genetic counsellor. Genetic counsellors can give people information about genetic conditions and how they are inherited, and they work very closely with clinical geneticists. Clinical geneticists are qualified to diagnose genetic conditions. The role of a genetic counsellor is primarily to help a family to understand better the implications of a diagnosis of a genetic condition within a family. Having genetic counselling in this case may help you to:

• Understand your condition better.
• Make informed decisions regarding the diagnosis.
• Feel more confident in discussing the condition with other family members who may be at risk.
• Feel more confident in communicating about your needs regarding the condition.

How is Ehlers-Danlos syndrome treated?

There isn’t any specific treatment for EDS as a condition in itself, but it is possible to manage many of the symptoms with the support and advice of a professional. Treatment and management of EDS is often by using a multidisciplinary approach that focuses on preventing disease progression and complications that can arise as there is no cure for the disease. Specialists in whatever field the concerns are in will usually take the lead on overseeing your care.

Some examples of healthcare professionals who may support you are:

• A physiotherapist – in this case a physiotherapist can teach you exercises to help strengthen your joints, avoid injuries and manage your pain. For further reading about physiotherapy, please see our knowledge base.
• An occupational therapist – in this case an occupational therapist can help you manage daily activities and give advice about different equipment that could help you.
• A cardiologist – in the case of any cardiovascular concerns this would be monitored by a cardiologist.
• Accessing counselling and cognitive behavioural therapy (CBT) may be useful if you are struggling to cope with chronic pain. CBT is a talking therapy that can help you manage your problems by changing the way you think and behave.
• Your GP may refer you to a joint specialist called a rheumatologist if you have problems with your joints and EDS is suspected.
• Regular scans – for certain types of EDS, regular scans carried out in hospital can detect any problems with your internal organs.
• Surgery – in some cases surgery may be needed if joint damage is particularly bad or in the event of an injury as a result of the condition.
• Genetic counselling – genetic counselling can help you learn more about what has caused your condition, how it’s been inherited, and what the chances are of passing it on to your children.
• Medication to treat the symptoms of EDS – the medication recommended will be dependent upon the specific symptoms that you are experiencing and how EDS affects you.
• Pain management – pain management is a field of healthcare that works towards reducing a person’s pain.

Ehlers-Danlos Support UK and Mind Body EDS are charities in the UK that offer advice and support for people living with EDS.