Updated: 11/27/2017

Ehlers-Danlos Syndrome

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Snapshot
  • A 32-year-old woman presents to the emergency department due to developing a severe headache. She reports that her headache is diffuse and felt like a "thunderclap." Her headache is described as 10/10 pain and is associated with nuchal rigidity. Medical history is significant for cervical insufficiency, mitral valve prolapse, and femoral hernias. Family history is notable for aortic dissection and subsequent death of her father. While performing the neurologic exam, there is joint hypermobility and skin hyperextensibility. Non-contrast computerized tomography (CT) scan of the head demonstrates a hyperdense lesion consistent with a subarachnoid hemorrhage. Nimodipine is administered and neurosurgery is consulted. Preparations are made for genetic testing.
Introduction
  • Clinical definition
    • comprises a group of connective tissue disorder involving collagen synthesis and structure that affects the
      • skin
      • joints
      • blood vessels
      • organs
  • Epidemiology
    • incidence
      • relatively rare
      • hypermobility Ehlers-Danlos syndrome (EDS) is the most common type
  • Etiology
    • caused by genetic alterations that affect collagen synthesis and processing
    • genetics
      • autosomal dominant or recessive
      • can also be acquired via a new spontaneous mutation
      • examples include
        • classic EDS
          • autosomal dominant type V collagen mutation in
            • COL5A1
            • COL5A2
        • vascular EDS
          • autosomal dominant type III procollagen mutation in
            • COL3A1
  • Pathogenesis
    • normal biology
      • collagen plays an important role in the tissue structure in a number of organs such as
        • skin
        • tendons
        • skeleton
        • eyes
        • vasculature
        • ligaments
    • tissues that use collagen become altered leading to a number of clinical consequences such as
      • hypermobility
      • skin hyperextensibility
      • tissue fragility
      • vascular abnormalities (e.g., saccular berry aneurysms)
Presentation
  • Symptoms/Physical exam
    • skin hyperextensibility
    • joint hypermobility
    • easy bruising
    • mitral valve prolapse
Studies
  • Making the diagnosis
    • clinically suspected with clinical presentation and family history
    • genetic or biochemical testing confirms the diagnosis
Differential
  • Marfan syndrome
  • Osteogenesis imperfecta
Treatment
  • Management approach
    • managed via a multidisciplinary approach
      • e.g., physical therapy for hypotonia and hypermobility
Complications
  • Vascular EDS
    • hollow organ rupture
    • arterial dissection
    • arterial and aneurysm rupture
    • obstetric complications such as
      • uterine rupture and hemorrhage
      • rectal tearing
  • Valvular involvement may require cardiac valve replacement

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