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Epidemiology

• Ehlers-Danlos syndrome (EDS) affects approximately 1 in 5,000 live births.¹
• Inheritance is usually autosomal dominant.

Presentation

Abnormalities of collagen production result in:

• Bruising, bleeding from the gastrointestinal tract.
• Dissecting aortic aneurysm at an early age.
• Wide scars.
• Laxity of joints.
• Herniae.
• Hyperelasticity of skin.

The first presentation may be premature rupture of the membranes.

Types of Ehlers-Danlos syndrome

There are many types of Ehlers-Danlos syndrome (EDS) based on different gene mutations affecting the structure or assembly of different collagens. All share common features of fragile skin and laxity of joints and ligaments. The Villefranche classification of EDS substituted descriptions for earlier types numbered with Roman numerals:²

• Classic (formerly known as Type I and II):
  • Classical features of EDS (soft, doughy, hyperelastic skin) with atrophic scars.
  • Multiple bruises, especially on the legs.
  • Easy skin-splitting shows in childhood over the forehead, elbows, knees and chin.
  • Other features are epicanthic folds, blue sclerae, fibrous nodules over knees and ankles.
• Hypermobile type (formally known as Type III):
  • Most common and often not diagnosed.
  • Characterised by tall stature, blue sclerae and ready bruising.
  • Shows marked joint hypermobility but moderate skin elasticity and no scarring.
• Vascular type (formally known as Type IV):³
  • Appears as thin skin with venous patterns readily visible, ecchymoses over the knees and shins, premature ageing of the skin on the dorsum of the hands, feet and shins with a 'Madonna' face with large eyes, nasal thinning and small ear lobes.
  • The main problem is spontaneous rupture of medium/large arteries at any age from mid-adolescence to late adult life. Arterial aneurysms are also common.
  • Death results from arterial rupture but rupture of the sigmoid colon is also common.
  • Recent studies showed that 15% of women who became pregnant died due to complications during pregnancy.
  • Overall median lifespan is reduced to 48 years.
• Kyphoscoliosis type (formally known as Type VI):
  • Severe main features with early progressive fibrosis and severe motor delay.
• Arthrochalasia type (formally known as Types VII A and B):
  • Severe main features, short stature, hip dislocation, dentinogenesis imperfecta.
• Dermatosparaxis type (formally known as Type VII C):
  • Main features are variable, early tooth loss with severe periodontitis.

Differential diagnosis

• Cutis laxa.
• Pseudoxanthoma elasticum.
• Other causes of joint hypermobility, e.g. benign joint hypermobility syndrome, Marfan's syndrome, osteogenesis imperfecta.⁴

Investigations

• Diagnosis is normally made on the clinical presentation.
• Subcutaneous calcified spherules can be confirmed on X-rays.

Management

• There is no specific treatment.
• Celiprolol, a beta1-adrenoceptor antagonist with a beta2-adrenoceptor agonist action, has been used to prevent arterial dissections and ruptures.⁵
• Trauma should be minimised, and protective clothing and padding may help.
• Genetic counselling should be provided.

Complications

• Pregnancy may be very dangerous. Obstetric complications include risk of uterine rupture during labour, damage to the vagina and perineum, bleeding and rupture of blood vessels and the colon during the puerperium.⁶
• Abnormal bleeding may cause extreme difficulty with any surgical operation.

Prognosis

• Lifespan is usually normal unless there is marked vascular fragility.
• A high prevalence of severe complications occurs in a minority of families