Ehlers-Danlos Syndrome (EDS)

Etiology

  • A family of genetic disorders, w/variable affects on connective tissues

Risk Factors

  • Family hx

Symptoms

  • Kyphoscoliosis
  • Vary based on degree of dysfxn and types of collagen affected
  • Skin hyper-extensability, joint hyper-mobility, frequent dislocations w/o sig force, easy bruising, poor wound healing, sig chronic pain of joints, back as age
  • Aneurysms in vascular tree - can cause symptom if they rupture (pain, hypovolemia, hypotension, death), contribute to embolic events or are involved with a dissection

Physical Exam Findings

  • Varies based on type of collagen affected, can include: joint subluxation, joint hyper-mobility, stretchy skin that snaps back
  • Skin can be paper thin or velvety
  • Echymoses, hematomas
  • Wide "cigarette paper" scars that bleed easily
  • Palpable aneurysms if located in an artery that that's accessible during exam (e.g. abdominal aortic aneurysm if patient thin, peripheral artery)

Links