Ehlers-Danlos Syndrome

Snapshot

• An 8-year-old boy is brought to his pediatrician for developing multiple bruises over the course of the school year. The patient’s mother believes the child is being bullied at school. The patient is otherwise healthy. Family history is significant for his father expiring at 38 yearas of age due to a severe subarachnoid hemorrhage. On physical exam, there are ecchymoses and hematomas over the shins and knees. The skin also appears fragile and thin, which demonstrates a venous pattern in the extremities. The child undergoes genetic testing to confirm the diagnosis.

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