Ehlers-Danlos syndrome is the name given to a group of conditions that are inherited through the genes. A faulty inherited gene means that there is a problem with the formation and structure of collagen and connective tissue in the body. This leads to stretchy skin, loose joints and fragile blood vessels and body tissues. Treatment is aimed at trying to protect the skin and joints from further damage.
What is Ehlers-Danlos syndrome and what causes it?
Ehlers-Danlos syndrome (EDS) is the name given to a group of conditions that are inherited through the genes. There is a problem with the formation and structure of collagen and connective tissue in the body.
Connective tissue is a fibrous tissue that gives support and structure and binds, or connects, parts of the body together. Collagen is a type of protein and is one of the main components of connective tissue. There are over thirty different types of collagen, found in different parts of the body. More than 80% of the skin is made up from collagen. Collagen is also found in the tendons, ligaments and cartilage around joints, as well as the blood vessels.
In someone with EDS, faulty genes mean that the amount of collagen in their body can be reduced and/or the collagen and connective tissue can be weaker. It can affect the skin, joints and blood vessels throughout the body leading to:
- Fragile and hyperelastic (stretchy) skin.
- Unstable and hypermobile (loose) joints.
- Fragile blood vessels and body tissues.
There are six main types of EDS that cause different problems and affect the body in different ways. The different types of EDS depend on which of the different types of collagen are affected and in what part of the body.
It is called Ehlers-Danlos syndrome after Edvard Ehlers and Henri-Alexandre Danlos who recognised and described the features of the group of conditions in the early 1900s.
How common is Ehlers-Danlos syndrome and who gets it?
EDS runs in families. It is inherited through the genes. It is thought to affect about 1 in 5,000 people. It affects both males and females approximately equally. Even though the problem with connective tissue and collagen is there from birth, the syndrome is not usually diagnosed until early adulthood. This is because it may take some time before the symptoms and signs become more obvious (see below).
What are the symptoms of Ehlers-Danlos syndrome?
Not everyone with EDS will have the same symptoms. The symptoms can vary according to the type of EDS that a person has.
The six main types of EDS are known as:
- Classic type
- Hypermobile type
- Vascular type
- Kyphoscoliosis type
- Arthrochalasia type
- Dermatosparaxis type
Below are some of the more common symptoms with EDS. One person may not have all of these symptoms.
The joints are loose (hypermobile) and hyper-extensible which means that they have a greater than normal range and degree of movement - they are very flexible. These joint problems are often described as 'double-jointed' by some people.
Dislocations of joints may easily occur. Joint pains are also common and curvature of the spine (scoliosis) may develop in some people. Children with hypermobile joints can take longer than average to sit, stand or walk. Note: people with the vascular type of EDS often do not develop joint problems.
In all types of EDS except the vascular type, the skin feels soft and stretchy - a bit like dough. It is also very easy to pull the skin upwards and away from the body - it appears to be very elastic. When you let go, the skin immediately returns to its normal position.
The skin may also be very delicate so that it bruises and becomes injured easily. This is because blood vessels near to the skin surface may be very delicate and fragile and can be damaged easily. Problems with skin healing and excessive scarring may be a problem in some people. In the vascular type, the skin may look as if you can see through it (translucent) so that you can see blood vessels underneath the skin.
Weakness of the muscles
This may be noticed perhaps by difficulty walking, falling over frequently or because of problems controlling the movements of the body. In more severe cases, people may need a stick or a wheelchair to help them walk or get about. Poor grip and difficulty writing may also be a problem for some people. Sometimes trouble with speaking can occur because the muscles that help the person to speak are weakened.
Other symptoms and problems
- Firm lumps a few centimetres across over the elbows and the knees develop in some people with EDS.
- Varicose veins may also be more common than in the general population.
- Teeth problems, including delay in teeth eruption, can occur. Sometimes not all permanent teeth may ever appear.
- In some women with EDS, pregnancy may be difficult and dangerous because there is a risk of bleeding.
- Weak collagen can also lead to problems inside the body. It may make the heart valves or the walls of the intestine weak.
- Multiple sclerosis has been shown to be associated with EDS.
How is Ehlers-Danlos syndrome diagnosed?
EDS is sometimes quite difficult to diagnose. It is usually suspected because of the typical symptoms. The doctor may ask about close family members and any problems and symptoms they may have had with their skin or joints.
Sometimes, a biopsy of the skin may be suggested to help confirm the diagnosis. The skin biopsy may allow doctors to determine which type of EDS a person has. It is a simple procedure which is usually done under a local anaesthetic. A small sample of skin a few millimetres across is taken (usually from the inner arm). One or two stitches may then be needed to close the skin back up. The skin sample is then examined underneath the microscope in the laboratory. Typical changes in the skin can be seen in the different types of EDS.
What is the treatment for Ehlers-Danlos syndrome?
There is no specific treatment for EDS. Treatment is generally aimed at trying to protect the skin and the joints from further damage.
People living with EDS need to think about and use their joints carefully and sensibly. They should be careful to avoid heavy lifting and contact sports, so as to minimise any trauma to their joints. Protective splints and joint supports may be helpful. Physiotherapists may be able to help and advise about the balance between rest and exercise. Walking aids such as sticks and wheelchairs may sometimes be needed. Occupational therapists may be able to advise about home adaptation and aids to help with daily living.
Painkillers may help with joint pains. Sometimes vitamin C supplements may be suggested. This is because vitamin C is needed for collagen synthesis in the body.
If someone has EDS, it may be helpful for them to talk to a genetic counsellor to discuss the risk of them passing on EDS to any future children.
What is the outlook (prognosis) for Ehlers-Danlos syndrome?
The outlook (prognosis) depends on which type of EDS a person has. If someone has the type that affects the blood vessels (the vascular type), then there is a risk of rupture (bursting) of large blood vessels in the body, as well as rupture of the internal organs. With other types of EDS, there is not this same danger. Most people with EDS are generally able to lead healthy and full lives.
Further help & information
Further reading & references
- Ceccolini E et al, Ehlers-Danlos Syndrome, Medscape, Sept 2011
- Gawthrop F, Mould R, Sperritt A, et al; Ehlers-Danlos syndrome. BMJ. 2007 Sep 1;335(7617):448-50.
- Parapia LA, Jackson C; Ehlers-Danlos syndrome--a historical review. Br J Haematol. 2008 Apr;141(1):32-5.
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.
Dr Tim Kenny
Dr Michelle Wright
Dr Hayley Willacy