II. Epidemiology
- Represents 80-90% of Ehlers-Danlos Syndrome cases
III. Pathophysiology
- Autosomal Dominant
- Only Ehlers-Danlos Syndrome type without an identified genetic disorder
IV. History
- See Five Point Hypermobility Questionnaire
- Childhood clumsiness, motor delay or Speech Delay
- Significant flexibility or double jointedness
- Chronic or recurrent Joint Pain
- Joint subluxation or dislocation with minimal Trauma
- Pelvic Organ Prolapse
- Rectal Prolapse
- Recurrent Hernias
V. Exam
- Marfan-like body habitus
- Joint Hypermobility with Joint Pain or recurrent dislocations
- Skin findings
- Atrophic Scarring is mild (and no hemosiderotic scars)
- Striae (stretch marks)
- Onset as teen, and not associated with Obesity or pregnancy
- Skin is not as fragile as other forms of Ehlers-Danlos Syndrome
- Piezogenic Papules
- Lateral heel with small subcutaneous fat Herniations
VI. Diagnostics
VII. Associated Conditions
- Anxiety Disorder
- Chronic Pain
- Fatigue
- Orthostasis
- Functional Gastrointestinal Disorders
- Pelvic dysfunction
- Bladder Dysfunction
VIII. Diagnosis
- See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
- Positive Beighton Score
- Hypermobile Ehlers-Danlos Syndrome (diagnostic checklist)
IX. Management
X. Course
- Childhood
- Hypermobility with or without pain
- Age 20-30 years
- Musculoskeletal pain
- Headaches
- Functional Gastrointestinal Disorders (e.g. Irritable Bowel Syndrome)
- Age 30-40 years old
- Inflexibility
- Widespread pain
- Fatigue