Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a rare inherited condition with disruption of the integrity of structural proteins in skin, ligaments, cartilage and blood vessels leading to fragility of connective tissues. There are seven types of 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.

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

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.

There are seven different types of EDS:

• Types I and II:
  • Classical features of EDS (soft, doughy, hyperelastic skin) with atrophic scars.
  • Multiple bruises, especially on legs.
  • Easy skin-splitting shows in childhood over forehead, elbows, knees and chin.
  • Other features are epicanthic folds, blue sclerae, fibrous nodules over knees and ankles.
• Type III (benign hypermobile syndrome):
  • 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.
• Type IV (vascular form):²
  • Appears as thin skin with venous patterns readily visible, ecchymoses over knees and shins, premature ageing of skin on dorsum of hands, feet and shins with 'Madonna' face with large eyes, nasal thinning and small ear lobes.
  • 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 reduced to 48 years.
• Type VI:
  • Severe main features with early progressive fibrosis and severe motor delay.
• Type VII:
  • Severe main features, short stature, hip dislocation, dentinogenesis imperfecta.
• Type VIII:
  • Main features variable, early tooth loss with severe periodontitis.

• Cutis Laxa
• Pseudoxanthoma elasticum
• Other causes joint hypermobility, e.g. benign joint hypermobility syndrome, Marfan's syndrome, osteogenesis imperfecta³

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

• There is no specific treatment.
• Trauma should be minimised, and protective clothing and padding may help.
• Genetic counselling should be provided.

• 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.⁴
• Abnormal bleeding may cause extreme difficulty with any surgical operation.

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