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Hypermobile Ehlers-Danlos Syndrome

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Hypermobile Ehlers-Danlos Syndrome, Hypermobile Ehlers Danlos Syndrome, Hypermobile EDS

  • See Also
  1. Ehlers-Danlos Syndrome
  2. Hypermobility Syndrome
  • Epidemiology
  1. Represents 80-90% of Ehlers-Danlos Syndrome cases
  • Pathophysiology
  1. Autosomal Dominant
  2. Only Ehlers-Danlos Syndrome type without an identified genetic disorder
  • History
  1. See Five Point Hypermobility Questionnaire
  2. Childhood clumsiness, motor delay or Speech Delay
  3. Significant flexibility or double jointedness
  4. Chronic or recurrent Joint Pain
  5. Joint subluxation or dislocation with minimal Trauma
  6. Pelvic Organ Prolapse
  7. Rectal Prolapse
  8. Recurrent Hernias
  • Exam
  1. Marfan-like body habitus
  2. Joint Hypermobility with Joint Pain or recurrent dislocations
    1. See Beighton Hypermobility Score
  3. Skin findings
    1. Atrophic Scarring is mild (and no hemosiderotic scars)
    2. Striae (stretch marks)
      1. Onset as teen, and not associated with Obesity or pregnancy
    3. Skin is not as fragile as other forms of Ehlers-Danlos Syndrome
    4. Piezogenic Papules
      1. Lateral heel with small subcutaneous fat Herniations
  • Diagnostics
  1. Echocardiogram
  • Associated Conditions
  1. Anxiety Disorder
  2. Chronic Pain
  3. Fatigue
  4. Orthostasis
  5. Functional Gastrointestinal Disorders
  6. Pelvic dysfunction
  7. Bladder Dysfunction
  • Diagnosis
  1. See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
    1. Positive Beighton Score
  2. Hypermobile Ehlers-Danlos Syndrome (diagnostic checklist)
    1. https://ehlers-danlos.com/wp-content/uploads/hEDS-Dx-Criteria-checklist-1.pdf
  • Management
  1. See Ehlers-Danlos Syndrome
  • Course
  1. Childhood
    1. Hypermobility with or without pain
  2. Age 20-30 years
    1. Musculoskeletal pain
    2. Headaches
    3. Functional Gastrointestinal Disorders (e.g. Irritable Bowel Syndrome)
  3. Age 30-40 years old
    1. Inflexibility
    2. Widespread pain
    3. Fatigue
  • References
  1. Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
    1. https://www.ncbi.nlm.nih.gov/books/NBK1244/
  2. Malfait (2017) Am J Med Genet C Semin Med Genet 175(1): 8-26 +PMID:28306229 [PubMed]
  3. Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]