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Ehlers-Danlos syndrome (EDS) - A Guide

Ehlers-Danlos syndrome (EDS) is commonly described as a collection of inherited conditions
that fit into a larger group, known as heritable disorders of connective tissue.

Some History

Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs.
It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC.
Edvard Ehlers, in 1901, recognized the condition as a distinct entity.
In 1908, Henri-Alexandre Danlos suggested that skin extensibility and fragility were the cardinal features of the syndrome.
In 1998, Beighton published the classification of Ehlers-Danlos syndrome according to the Villefranche nosology.
From the 1960s the genetic make up was identified. Management of bleeding problems associated with Ehlers-Danlos has been slow to progress.

Br J Haematol. 2008 Apr;141(1):32-5. doi: 10.1111/j.1365-2141.2008.06994.x.

Introduction

EDS is known to affect men and women of all racial and ethnic backgrounds. Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are different types of EDS that may share some features, including:

  • joint hypermobility – increased range of movement of joints
  • stretchy skin
  • fragile skin tissue

The fragile skin and unstable joints found in EDS may be the result of faulty collagen.

Collagen is a protein in connective tissue that acts as a "glue" in the body, adding strength and elasticity. There are many different kinds, including collagens I, III and V. The type of EDS depends on which collagen is involved.

The different types of EDS are caused by alterations in certain genes that make collagen weaker. Sometimes the amount of collagen in the body is reduced. The faulty genes can be passed from parents to their child (inherited).

This information is for anyone who has been recently diagnosed with EDS, or for anyone whose child has the condition. It explains:

  • hypermobile joints
  • different types of EDS
  • living with EDS
  • managing pain

Hypermobile joints

People with EDS typically have loose joints, which means the limbs bend more than usual. This can cause floppy joints in infancy, and some affected children take longer to sit, stand and walk.

The Different types of EDS

There are many types of EDS based on different gene mutations affecting the structure or assembly of different collagens. Many syndromes overlap and it may be difficult to differentiate one from the other. All share common features of fragile skin and laxity of joints and ligaments, to a greater or lesser degree.

The seven most common types of EDS are described below.
New genes have been found that explain other rare types of EDS.

Hypermobile EDS (formerly known as type III)

Hypermobile EDS is the most common form. However, there is some debate over whether it is the same as joint hypermobility syndrome. Both conditions may be part of a group of several similar conditions.

There are no tests available to confirm the diagnosis or distinguish between hypermobile EDS and joint hypermobility syndrome. The diagnosis is made based on a physical examination and a person's medical history.

People with hypermobile EDS may have:

  • joint hypermobility – the joints have a wider range of movement than usual
  • loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)
  • joint pain and fatigue
  • joints that "click" and are easily bruised
  • gastrointestinal complications
  • symptoms that affect the autonomic nervous system (the nervous system that controls your automatic functions, such as breathing and urination) – this includes postural tachycardia syndrome, which causes fast heart rate, dizziness and fainting
  • mitral valve prolapse – a heart valve abnormality
  • uterine, rectal or bladder prolapse
  • urinary dysfunction
  • dental problems
  • low bone density (osteoporosis)

Classical EDS (formerly known as types I and II)

Classical EDS (previously known as EDS types I and II) is a rare condition and many health professionals will not be familiar with the symptoms and how to treat it.

People with classical EDS may have:

  • joint hypermobility
  • loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)
  • stretchy (hyperextensible) skin
  • fragile skin that can split easily – especially over the forehead, knees, shins and elbows
  • smooth, velvety skin that bruises easily
  • wounds can be slow to heal and leave wide, papery scars
  • fragile and stretchy tissues can also result in hernias and prolapse
  • in rare cases, there may be problems with the veins and arteries

Vascular EDS (formerly known as type IV)

Vascular EDS is a rare type of EDS and considered to be the most serious form. The condition is sometimes associated with life-threatening complications, as the blood vessels and large bowel wall are prone to rupture, causing internal bleeding.

Women with vascular EDS who become pregnant may have an increased risk of vascular complications. There is an increased risk of womb rupture in later pregnancy.

People with vascular EDS may have:

  • skin that bruises very easily because of fragile tissues
  • thin skin with visible small blood vessels, particularly on the upper chest and legs
  • fragile blood vessels – this can lead to major complications, such as blood vessels tearing (dissection) and arterial aneurysms (artery widening with a risk of rupture)
  • risk of damage to hollow organs, such as bowel perforation or uterine rupture (where the womb tears)

Occasionally there may be other features, including:

  • hypermobility of small joints (such as fingers and toes)
  • premature ageing of the skin on hands and feet
  • unusual facial features, such as a thin nose and lips, large eyes, small earlobes and fine hair
  • joint contractures (permanent shortening of a joint)
  • partial collapse of the lung (pneumothorax)
  • gum problems, such as bleeding or receding gums
  • varicose veins in early adult life
  • wounds may take longer to heal

Kyphoscoliotic EDS (formerly known as type IV)

Kyphoscoliotic EDS is a genetic condition caused by having an alteration, also known as a mutation, in a gene called PLOD1. This gene is the instruction for making the enzyme lysyl hydroxylase 1. When this gene is altered it reduces or stops the activity of the enzyme and affects cross-linking between collagen fibres which weakens the connective tissues.

People with kyphoscoliotic EDS may have:

  • curvature of the spine – this starts in early childhood and often gets worse in the teenage years
  • loose, unstable joints that frequently lead to dislocations
  • weak muscle tone from childhood – this may cause a delay in sitting and walking, or difficulty walking if symptoms progress
  • fragile eyeballs that can easily be damaged
  • unusual shape or size of the clear front part of the eye (cornea)
  • soft, velvety skin that is stretchy, bruises easily and scars

On occasions other features present can include:

  • Fragile arteries which can lead to complications.
  • Tall stature with long limbs, fingers and toes.
  • Osteoporosis (weakened bones).
  • Clubfoot, apparent at birth.

Arthrochalasia Type-EDS (formerly known as types VII A and B)

  • Severe main features, short stature, hip dislocation, dentinogenesis imperfecta.
  • Dysmorphic features such as micrognathia and sparse hair may be present but tend to improve as the child gets older.

Dermatosparaxis type (formerly known as type VII C)

  • The condition is very rare. It is usually diagnosed by the age of 2.
  • Anomalies during the first years of life include premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanelles, blue sclerae, puffy eyelids, micrognathia, umbilical hernia and short fingers.
  • Joint hypermobility becomes increasingly prominent with age.
  • The most significant risk is rupture of internal organs.
  • Orofacial features include micrognathia, a frontal open bite and gingival hyperplasia with varying degrees of hyperkeratosis. The appearance can be diagnostic.
  • Dental complications are the most common features and include abnormal morphology of the deciduous molars, obliteration of the tooth pulp and severe enamel attrition. The main feature is variable, early tooth loss with severe periodontitis. The permanent dentition shows agenesis and microdontia of several teeth, with tooth discolouration, dysplastic roots and tooth pulp obliteration.

The Tenascin-X Deficient Type of EDS is characterized by:

  • joint hypermobility, hyperelastic skin, and fragile tissue. Lacking multiple shrinking (atrophied) scars in the skin that is often seen in the Classic Type of Ehlers-Danlos Syndrome.
  • inherited as an autosomal recessive genetic trait (not seen in family members or only in one generation of members of the same family).

Living with EDS

Fatigue is common in most types of EDS. If you have been diagnosed with the condition, you may find you need to conserve your energy and pace your activities.

You should avoid heavy lifting, contact sports and keeping your joints in one position for lengthy periods.

Simple measures can help protect some of your joints and help reduce pain. Exercise is important to strengthen the muscles that support the joints and so help minimise joint dislocations. Swimming, pilates and exercises that strengthen core muscles are recommended.

For children with classical EDS, it may be helpful to pad or bandage your child's lower legs and elbows during activity and pad sharp corners on furniture. This may reduce the risk of skin injury, scarring and bruising.

However, it is important that parents are not overprotective and allow their children to live their life as normally as possible.

It is especially important that people with vascular EDS avoid contact sports and activities that involve lifting very heavy weights, sudden changes of acceleration (sprinting), or weight training.

Strenuous household tasks involving lifting or pushing large or heavy objects should also be avoided.

It is recommended that those with vascular EDS wear a medical alert bracelet.

Read more about living with EDS on the EDS Support UK website for more tips and advice on joint care, and finding a balance between rest and exercise.

EDS Support

If you or your child are having problems with pain and movement, you can ask your GP to refer you to a physiotherapist with an understanding of hypermobility.

If necessary, your GP can refer you to an occupational therapist to help you manage daily activities and give advice on equipment that may help you.

Counselling and cognitive behavioural therapy (CBT) may be useful in helping you to cope with long-term pain. Your GP should be able to advise about local counselling services. Patient support groups such as EDS Support UK can also be helpful.

If you want to find out more about the cause of the condition and the chance of other family members also having EDS, you can ask your GP to refer you to your local genetics service. Genetic counselling, where you can discuss the chance of passing the condition on to future children, is available.

A specialist EDS diagnostic service was set up in 2009 for patients in England and Scotland. This service is for complex EDS, where the diagnosis of the specific form of EDS requires further investigations.

Hospital consultants can refer you to this service, but not GPs. The clinics are held in Sheffield and London. Individuals in Northern Ireland or Wales require separate funding from their health authority.

Pain Management

For advice about persistent pain, you can speak to your GP, who may refer you to a rheumatologist or pain specialist. Read more information about living with pain.

The EDS Support UK website also offers advice about overcoming sexual difficulties associated with pain.

Resources:

The following links offer further information, advice and support:

Ehlers-Danlos Support UK

Hypermobility Syndromes Association (HMSA)

British Medical Journal (2007): a patient's journey

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