Ehlers-Danlos Syndrome


  • ED are actually a group of rare inherited conditions characterised by abnormal proteins which are important for the structural integrity of skin, ligaments, cartilage and blood vessels.
  • Occurs in ~1 in 5000 births

Different types of ED


  • Caused by faulty collagen V (COL5A1 or COL5A2 genes) and is an autosomal dominant condition
  • Classical features of EDS
    • Joint hypermobility and loose joints which can lead to dislocations and subluxations
    • Stretchy (hyperextensible), smooth and fragile skin which can split and bruise easily
    • Wounds can be slow to heal and leave distinctive widened scars
    • Other subsequent problems may include hernias, prolapse and cervical insufficiency
  • Patients should have an echocardiogram to look for heart abnormalities
  • Careful care of wounds (particularly e.g. in surgery) should be considered

Hypermobile type

  • Most common and often not diagnosed.  It is uncertain as to whether this is a distinct condition from joint hypermobility syndrome, although the diagnosis of HEDS is usually made if there are other systemic features (see below).  It is more common than other types but is also more commonly undiagnosed
  • The exact gene causing HEDS is unknown in most cases, although an autosomal dominant mode of inheritance is common
  • Features include
    • Joint hypermobility and loose joints that can dislocate/sublux easily; also joint pain and fatigue
    • Easy bruising but no scarring
    • GI dysfunction
    • POTS (Postural orthostatic tachycardia syndrome); mild mitral valve prolapse/regurgitation
    • Uterine, rectal or bladder prolapse; urinary dysfunction
    • Varicose veins
    • Often patients are tall and may have blue sclerae
  • Often just advice about contact sport etc and risk of dislocations etc is all that is required

Vascular type

  • Caused by defect in collagen III (COL3A1- autosomal dominant) and is very rare
  • Features include
    • Fragile blood vessels cause easy bruising, but also more serious complications e.g. rupture of more major blood vessels
    • There is also an increase risk of rupture of hollow organs e.g. GI tract; and gum problems (bleeding gums)
    • Thin skin often makes blood vessels more prominent.  This can appear as premature aging, particularly over the hands and feet.
    • There are also classical facial features (‘madonna face’- thin nose/lips, large eyes, small earlobes and fine hair)
    • Joint hypermobility, slow wound healing and joint contractures are also seen
    • Also consider this diagnosis where there is a history of bleeding but all blood tests are normal
  • Patients should be followed-up for any signs/symptoms of major arterial bleed or bowel perforation.  Unfortunately, this can often be fatal by mid-adolescence to late adulthood.  (average lifespan- 48 years)
    • Uterine rupture is also common in pregnancy, and women need to be counselled prior to conception and during pregnancy as to the risks and management options

Other types include Kyphoscoliotic EDS; Tenascin-X deficient EDS; Arthrochalasia EDS; Dermatosparaxis EDS.


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