Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect collagen proteins in the body. Typical features are stretchy skin, loose joints and fragile body tissues.

 

EDS is caused by a defect in the synthesis of collagen, specifically mutations in the COL5A and COL3A genes, these alterations in certain genes make collagen weaker.

 

Sometimes the amount of collagen in the body is reduced. The faulty genes can be passed from parents to their children.

 

Collagen is a protein in connective tissue which acts as a 'glue' in the body, adding strength and elasticity, it is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and viscereal organs. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive. 

Video courtesy & kind permission of Bethanie's Battle 

The syndrome is named after two physicians, Edvard Ehlers from Denmark, and Henri-Alexandre Danlos from France, who identified it at the turn of the 20th century.

Edvard Laurits Ehlers (26 March 1863 Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of genetic misfunctions of connective tissue, called Ehlers–Danlos syndrome (EDS).

 

Edvard Lauritz Ehlers grew up as the Mayor of Copenhagen's son and qualified in medicine in 1891. In the following years he went into further studies in Berlin, Breslau, Vienna and Paris. In Iceland he studied the decline of leprosy and was rewarded for his studies with a prize from the National Leprosy Fund in London. In 1906 he was appointed chief of the dermatological polyclinic at the Frederiks Hospital in Copenhagen. From 1911 to his retirement in 1932, Ehlers was director at the municipal hospital of Copenhagen.

Henri-Alexandre Danlos (March 26, 1844 – September 12, 1912) was a French physician and dermatologist born in Paris.

 

With Edvard Ehlers, the Ehlers–Danlos syndrome is named.

 

He studied medicine in Paris, and during the early part of his career performed research in the laboratory of Charles-Adolphe Wurtz (1817-1884). In 1881 he became médecin des hôpitaux, and four years later was chef de service at the Hospital Tenon in Paris. In 1895 he received an appointment at the Hospital Saint-Louis.

 

Danlos was pioneer in the use of radium for treatment of lupus erythematosus of the skin, and in 1901 with physicist Eugène Bloch (1878-1944), he was the first to apply radium on tuberculous skin lesions.

Common features of EDS

 

There are various different forms of EDS. All share some common features, such as loose joints, abnormal skin and fragile body tissues, but each form of EDS has unique characteristics too.

 

The forms of Ehlers-Danlos syndrome (EDS) can be defined as follows:

  • Classical - the skin is stretchy, soft, fragile and elastic. The joints are loose and flexible.
  • Hypermobility - the joints are noticeably loose, flexible and sometimes painful, particularly after exercise. Unlike with other types of EDS, the skin is virtually normal, except for easy bruising.
  • Vascular - this is the most severe type, as it means organs and blood vessels can easily burst. 
  • Kyphoscoliotic - the spine is severely curved in childhood.
  • Arthrochalasia - this causes short stature, fragile skin and joints that easily dislocate.
  • Dermatospraxis - the skin is doughy and wrinkly, and tends to sag and fold. This type is exceptionally rare, probably affecting fewer than five patients in the UK.
  • Periodontal - this form resembles classical EDS, but also causes very fragile gums.

 

The general features are described in more detail below.

 

Hypermobile joints

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

 

Hypermobility EDS is the most common form. The joints can sometimes be very unstable and may dislocate easily.

 

In other forms of EDS (such as kyphoscoliotic and arthrochalasia EDS), the looseness of the joints tends to be more disabling and dislocations may happen frequently. Joint instability may occasionally lead to osteoarthritis but this is uncommon and occurs mostly in adults.

 

Abnormal skin

In most forms of EDS the skin is stretchier than normal. It easily pulls away from the body and springs back once released (this is best tested at the neck, elbows or knees).

 

Bruising of the skin is common in most forms of EDS because small surface blood vessels may be fragile and break easily.

 

In classical EDS, skin can also be extremely fragile and can split easily, especially over the forehead, knees, shins and elbows. The scars can be wide and papery.

 

In the very rare dermatospraxis form of EDS, the skin is severely fragile, saggy and wrinkly. There may be obvious looseness of the facial skin.

 

In vascular EDS, the skin is often transparent, particularly over the chest, and the veins underneath are easily visible.

 

People with other forms of EDS may also have slightly thinner skin than usual.

 

Fragile body tissues

Increased stretchiness and fragility of ligaments, tendons and joint tissues makes them prone to overstretching or even tearing (ligaments are tissues that connect bones together at a joint, and tendons connect bone to muscle). Therefore, limbs may be floppy because they are not properly supported.

 

In vascular EDS, certain body tissues and organs are particularly delicate. Blood vessels, bowel walls and lung linings may be easily torn, causing internal bleeding. Pregnancy in women with vascular EDS can be dangerous because the womb lining is fragile.

Issues with my Tissues

Issues with my Tissues follows the epic emotional journey of Lara Bloom. The documentary also highlights the devastation of vascular EDS.

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Vascular EDS Conference 2017

We are proud to announce that Annabelle's Challenge and Ehlers-Danlos Support UK will be jointly hosting the first ever UK Vascular EDS Conference on Saturday 6th and Sunday 7th May 2017 in Manchester.

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