Ehlers-Danlos Syndrome

  1. What is EDH?
    A group of more than 10 different inherited disorders that involve the genetic defect in collagen, connective tissue ynthesis and structure. Primarily affecting the skin, joints and blood vessel walls.
  2. Incidence of EDH?
    • Equally affect all races.
    • Equally affect both sexes.
    • Generally diagnosed in early childhood.
  3. Cuase of EDH?
    Caused by a variety of genetic mutations. Genetic mutations alter normal enzyme activity, leaving the connective tissue weak and unstable. It is autosomal dominant inherited.
  4. EDH chance of inheritance?
    Children have a 50% chance of inheritance.
  5. signs and symptoms of EDH?
    stretchy skin and hypomobile joints, severe bruising.
  6. EDH classical type incidence?
    affects 1 in 10,000 to 20,000 people
  7. EDH classical type s/s?
    • loose joints
    • highly elastic, velvety skin
    • fragile skin that bruises and tears easily
    • slow and poor wound healing, with wide scarring
    • noncancerious fibrous growths on pressure areas
    • muscle fatigue and joint pain
    • heart valve problems
  8. Hypermobility type of EDH s/s?
    • Loose, unstable joints with many dislocations
    • easy bruising
    • muscle fatigue and pain
    • chronic degenerative joint disease
    • advanced premature osteoarthritis with chronic pain
    • heart valve problems
  9. Hypermobility type of EDH incidence?
    affects about 1 in 10,000 to 15,000 people
  10. Vascular type of EDH incidence?
    • affects about 1 in 100,000 to 200,000
  11. Why do we usually see EDH patients?
    decrease joint pain
  12. Vascular type of EDH?
    • fragile blood vessels and organs that are prone to tearing
    • thin, translucent skin that bruises easily
    • facial appearance (protruding eyes, thin nose and lips, sunken cheeks and small chin)
    • collapsed lung
    • heart valve problems
  13. What are the remainins 4 types of EDH?
    • Kyphoscoliosis, arthrochalasis, dermatosparaxis, and other.
    • make up a very small % of EDS and are considered rare.
  14. How is EDH diagnosed?
    • Genetic testing: preimplantation, prenatal, postnatal DNA test
    • skin biopsy
    • echocardiogram
  15. Medical manifestations of EDH?
    No cure, prominent scarring, difficulty with surgical wounds (stitches may tear out), chronic joint pain, joint dislocation, early onset arthritis, premature aging with sun exposure
  16. Medical management of EDH?
    • Medication for joint pain (nonsteroidal anti-inflammatory, topical anesthetics)
    • Supplements: vit V
    • Medical management is typically viewed by patients as unsatisfactory.
  17. Clinical presentation of EDH?
    • Normal cognition
    • skin is soft, velvety, fragile and doughy feel
    • joint hypermobility
    • joint dislocation and/or subluxation
    • joint and musculoskeletal pain
    • scoliosis
    • poor muscle tone
  18. PT management?
    • Strength training to help stabilize joints to reduce muscle fatigue and joint damage
    • orthotics for joint support
    • parent education: avoid contact sports and weightlifting, protective gear, reduce clutter, assistive devices, mild soaps and sunscreens
  19. Coping strategies for children?
    Maintain normalcy, be open and tell appropriate people about diagnosis for accommodations, promote activity (swimming), find a routine (home and school)
  20. Prognosis and outcomes of EDH?
    Type IV will have a shorten life span, cause of death is typically (arterial aneurysma, valvular prolapse, spontaneous pneumothorax, vascular perforation) The other types generally have a typical life and lifespan.
Card Set
Ehlers-Danlos Syndrome