Ehlers-Danlos syndrome

Background

• Hereditary connective tissue disorder
• Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis
• Causes increased risk of:
  • Thoracic and abdominal aortic aneurysm
  • Mitral valve prolapse
  • Spontaneous pneumothorax
  • Myopia and retinal detachment
  • Premature degenerative arthritis

Clinical Features

• Type I and II: Classical
  • Hyperextension of the joints and skin
  • Easy bruising and skin fragility
  • Congenital dislocations of the hips, recurrent dislocations of other joints
  • Spondolithesis
  • Joint effusions
  • Club foot
• Type III: Hypermobility
  • Similar to Classic, however less skin involvement
• Type IV: Vascular
  • Colonic perforation
  • Ruptured arteries
  • Uterine rupture during pregnancy
  • Severe and frequent wound dehiscence after surgery
  • Only type that significantly affects mortality
• Type VI: Kyphoscoliotic
  • Fragility of the ocular globe
  • Marked joint hyperextension
  • Severe scoliosis
• Type VIIA and VIIB: Arthrochalasia
  • Profound joint hyperextension
  • Moderate short stature
• Type VIIC: Dermatosparaxis
  • Minimal joint involvement
  • Primarily affects the skin and fascia

Differential Diagnosis

• Marfan syndrome
• Cutis laxa
• Loeys-Dietz syndrome
• Osteogenesis imperfecta
• Larsen Syndrome
• Stickler syndrome
• Arteria tortuosity syndrome

Management

• Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm
• Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma
• Monitoring of skin fragility, wound healing, easy bruising

See Also

• Connective tissue disease