Tag Archives: vascular

Ehlers-Danlos syndrome

Covers a spectrum of problems, classified by Beighton (as in hypermobility, Marfans etc). “Vast genetic heterogeneity and phenotypic variability” – 2017 proposed classification includes 13 subtypes!


  • joint laxity (hypermobility),
  • skin hyperextensibility,
  • tissue fragility (easy bruising, skin splitting, hernias, prolapses).

Stretchy skin can feel soft and doughy.  Associated with atrophic scars (that look like bad healing).

Mild myopathy seen.

  • Type 1 is severe, commonly born prematurely due to premature rupture of membranes, joint and skin laxity are gross with frequent orthopaedic problems. History of hernia repair? Aortic root dilatation and mitral valve prolapse have been reported but evidence on prognosis is still conflicting.
  • Type 2 is milder and so often underdiagnosed.
  • Type 3 is benign joint hypermobility without skin problems!
  • Type 4 is the rare but severe form where risk of arterial rupture, mostly between ages 20-40. Autosomal dominant so may be history, sometimes characteristic facies. Abnormal bruising is characteristic and the skin is unusually translucent but paradoxically it is not especially hyperextensible, and hypermobility may not be very obvious (perhaps only in fingers)! Problems rarely present before age 20 so important to pick up. Arterial rupture can affect anywhere – aneurysm or bizarre fistula may precede, else trauma or surgery may be a trigger. Bowel rupture is often seen although not usually lethal, pregnancies can be affected by uterine rupture +/- haemorrhage.

Sheffield does genetic testing.