Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is an umbrella term which is used to describe a number of connective tissue conditions that affect the skin and joints. It includes inherited conditions which cause the collagen – a glue-like protein that enables strength and movement in the connective tissue – to become faulty. Ehlers-Danlos syndrome has various affects on the body, including skin that bruises easily, loose joints and blood vessels that can be easier to damage. There are six main types of Ehlers-Danlos syndrome and they are classified according to the symptoms they cause. The syndrome affects people in different ways and can be mild, moderate or potentially life-threatening. Individuals cannot inherit the different types of Ehlers-Danlos syndrome, so it is not possible for someone with Vascular Type Ehlers-Danlos syndrome to have a child with Classical Type Ehlers-Danlos syndrome.

How common is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is not common and in the UK it is estimated that 1 in 5,000 people are affected. There is no evidence to suggest that the condition affects people of certain ages, genders or ethnicities more than others.

Types of Ehlers-Danlos syndrome

There are six main types of Ehlers-Danlos syndrome and they are all caused by a defect in the connective tissue. The different types can cause different symptoms.

  • Hypermobility (formerly known as Type III)

Joint hypermobility is the main symptom of Type III Ehlers-Danlos syndrome, which affects the larger joints, such as the elbows and knees, as well as smaller joints like the fingers. Dislocations are common in people who have Hypermobility Ehlers-Danlos syndrome and some joints, including the shoulders, knees and temporomandibular joints, are particularly susceptible to dislocation. Hypermobility Ehlers-Danlos syndrome causes joint pain, which can be chronic and severe. This type of Ehlers Danlos syndrome has autosomal dominant inheritance.

  • Classical (formerly known as Type I & II)

Hyperextending skin (very stretchy skin) is the dominant symptom of Classical Type Ehlers-Danlos syndrome, but joint hypermobility is also very common. The skin tends to be fragile, soft and bruises easily. Scars are also common and can be found over the knees, elbows and chin. Joint hypermobility increases the risk of dislocation, subluxation, flat feet and problems with hernias can also develop. Classical type Ehlers-Danlos syndrome has autosomal dominant inheritance.

  • Vascular (formerly known as Type IV)

Vascular type Ehlers-Danlos is the most serious form of the condition, because there is a risk of blood vessel rupture and organ damage. The skin is usually thin enough for you to see veins through it and some people have distinctive facial characteristics, including lobeless ears, thin hair and larger than average eyes. Arterial rupture is the most common cause of unexpected death and this occurs most commonly when people are in their 30s or 40s. Joint hypermobility is not common with Vascular Type Ehlers-Danlos syndrome. However, some people do have hypermobile fingers and toes. There can also be problems with club foot and muscle and tendon rupture. Vascular Type Ehlers-Danlos syndrome has autosomal dominant inheritance.

  • Kyphoscoliosis (formerly known as Type VI)

The major symptoms of Kyphoscoliosis Ehlers-Danlos syndrome are weak muscle tone (hypotonia) and joint laxity, which are both usually present at birth. Weak muscle tone often contributes to delayed development and growth. Kyphoscoliosis Ehlers-Danlos syndrome is progressive and most people will be unable to walk once they reach their 20s or 30s due to increasingly severe scoliosis. Problems also include sclera of the eye, fragile tissue, bruising easily and skeletal osteopenia, which means there is a lowered bone density. This type has autosomal recessive inheritance.

  • Arthrochalasia (formerly known as Type VII A&B)

The major symptom of Arthrochalasia Ehlers-Danlos syndrome is congenital hip joint dislocation. It also causes severe joint hypermobility and an increased risk of dislocation. Other symptoms include stretchy, fragile skin that bruises easily, scarring and a lack of muscle tone. Arthrochalasia Ehlers-Danlos like Kyphoscoliosis Ehlers-Danlos also causes skeletal osteopenia, which is a precursor to osteoporosis and muscle hypotonia (weaker muscle tone).

  • Dermatospraxis

This form of Ehlers-Danlos syndrome causes extremely fragile skin and sufferers often have severe bruising and saggy skin. Hernias are also common and some people lack facial characteristics. The skin often has an extremely soft texture, with no tension. Dermatospraxis Ehlers-Danlos syndrome is not common and has autosomal dominant inheritance.

What causes Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a group of inherited conditions which are caused by abnormal genes. There are two known inheritance patterns, including autosomal dominant and autosomal recessive.

Symptoms of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome affects people in different ways. Some people experience mild symptoms, while others have severe symptoms. Symptoms include:

  • Loose joints.
  • Hypermobility (this means an increased range of movement in the joints).
  • Bruising easily.
  • Skin that is vulnerable to damage.
  • Problems with vision.
  • Increased risk of joint dislocation.
  • Joint pain.
  • Slow healing (if the skin is wounded or damaged).
  • Lack of muscle tone.
  • Lowered bone density.

Ehlers-Danlos syndrome can also contribute to the following complications:

  • Early onset osteoarthritis.
  • Hollow organs.
  • Precursor to osteoporosis.
  • Damaged blood vessels.

Treatment for Ehlers-Danlos syndrome

There is currently no cure for Ehlers-Danlos syndrome and treatment is usually administered according to the type of symptoms and when they appear. The aim of treatment is to ease symptoms and make life more comfortable. Measures are also taken to try and reduce the risk of serious injury and health problems. Children are often advised to wear supports to protect their elbows and legs when they first start to walk and occupational therapists work with patients to try and make the home safer to avoid injuries.

Pain control

Research shows that pain is linked to an increased risk of depression and it is important to treat pain before it starts to cause psychological problems. If you are suffering pain make sure you see your doctor, so that they can prescribe medication to help. In most cases, analgesic medication will be described, which is the medical term for painkillers. Other medications, including non-steroidal anti-inflammatory drugs, can also be prescribed and, if your doctor diagnoses depression, anti-depressants can be taken. Other pain controlling methods may be beneficial, such as using ice, heat pads and massage can also help to ease pain. However, make sure the person massaging you uses a medium (non-greasy oil, for example) and presses very gently.

What is the prognosis for individuals with Ehlers-Danlos syndrome?

The prognosis for people with Ehlers-Danlos syndrome is generally good. Life expectancy is not usually affected but may be shortened in the case of Vascular Type Ehlers-Danlos syndrome, as it can cause blood vessels to rupture and organ damage in severe cases.

Living with Ehlers-Danlos syndrome

Living with Ehlers-Danlos syndrome can be difficult and you may need to take steps to protect your joints, conserve your energy and manage pain. Here are some pointers to make life easier:

  • Rest when you need to.
  • Try to sit down to carry out tasks. In most cases, you will be able to work as effectively sitting down as standing up.
  • Prioritise things that need to be done and make lists.
  • Avoid over-exertion.
  • Avoid heavy lifting.
  • Avoid activities that require awkward or strenuous movements.
  • Wear splints and supports to protect your joints.
  • Pace yourself.
  • Exercise to strengthen your muscles, but stick to your recommended regime to prevent damage and over-exertion.
  • Think about your posture.
  • Sit in high-backed chairs to support your back.
  • Wear supportive footwear.

Support and information

As there is no cure for Ehlers-Danlos syndrome and no specific treatment, it can be difficult for patients to get their head around the condition and what it means for the way they live their lives. In the majority of cases, Ehlers-Danlos syndrome can be effectively managed. Genetic counselling is available for parents with a family history of Ehlers-Danlos syndrome and antenatal screening tests can be carried out. Information, advice and support are also available from the Ehlers-Danlos National Foundation.

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