Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. The prevalence ranges from 1:2,500 to 1:5,000 individuals.

Key Points

• Heterogeneous group of disorders affecting connective tissue
• Variable inheritance patterns (autosomal dominant, recessive, X-linked)
• Multiple subtypes with distinct clinical features
• Significant impact on quality of life
• Requires multidisciplinary management approach

EDS Types and Their Major Features

1. Hypermobile EDS (hEDS)

• Most common type
• Generalized joint hypermobility
• Soft, mildly hyperextensible skin
• Chronic musculoskeletal pain
• No specific genetic test available

2. Classical EDS (cEDS)

• Marked skin hyperextensibility
• Widened atrophic scars
• Joint hypermobility
• COL5A1/COL5A2 mutations

3. Vascular EDS (vEDS)

• Most severe form
• Arterial/organ fragility
• Characteristic facial features
• COL3A1 mutations
• Life-threatening complications

4. Other Types:

• Kyphoscoliotic
• Arthrochalasia
• Dermatosparaxis
• Cardiac-valvular
• Classical-like
• Spondylodysplastic
• Musculocontractural
• Myopathic
• Periodontal

Common Clinical Manifestations

Skin Features:

• Hyperextensibility
  • Varies by subtype
  • Most prominent in classical type
  • Test on standardized sites
• Fragility
  • Easy bruising
  • Poor wound healing
  • Atrophic scarring
  • Delayed wound healing

Joint Manifestations:

• Hypermobility
  • Beighton score assessment
  • Age and sex-dependent
  • Can decrease with age
• Complications
  • Recurrent dislocations
  • Chronic pain
  • Early osteoarthritis
  • Soft tissue injuries

Systemic Manifestations:

• Cardiovascular
  • Aortic root dilation
  • Mitral valve prolapse
  • Arterial dissection (vEDS)
• Gastrointestinal
  • Visceral fragility
  • Hernias
  • Intestinal rupture risk
• Neurological
  • Headaches
  • Dysautonomia
  • Craniocervical instability

Diagnostic Approach

Clinical Assessment:

• Detailed history
  • Family history
  • Developmental milestones
  • Previous complications
• Physical examination
  • Beighton score
  • Skin assessment
  • Facial features
  • Scarring patterns

Diagnostic Testing:

• Genetic Testing
  • Gene panels
  • Whole exome sequencing
  • Collagen typing
• Imaging Studies
  • Echocardiogram
  • Skeletal surveys
  • MRI when indicated

Diagnostic Criteria:

• 2017 International Classification
  • Major criteria
  • Minor criteria
  • Systemic manifestations

Treatment Strategies

Preventive Care:

• Joint Protection
  • Activity modification
  • Proper biomechanics
  • Supportive devices
• Skin Care
  • Sun protection
  • Wound care protocols
  • Scar management

Therapeutic Interventions:

• Physical Therapy
  • Muscle strengthening
  • Proprioception training
  • Pain management
• Occupational Therapy
  • ADL modifications
  • Ergonomic adjustments
  • Adaptive equipment
• Pain Management
  • Medication protocols
  • Alternative therapies
  • Psychological support

Surgical Considerations:

• Indications
  • Joint stabilization
  • Vascular repair
  • Emergency procedures
• Precautions
  • Tissue fragility
  • Healing complications
  • Anesthesia risks

Major Complications

Musculoskeletal:

• Chronic joint instability
• Premature osteoarthritis
• Chronic pain syndrome
• Scoliosis
• Temporomandibular disorders

Cardiovascular (especially in vEDS):

• Arterial dissection
• Aneurysms
• Valvular dysfunction
• Easy bruising
• Spontaneous arterial rupture

Obstetric/Gynecologic:

• Pregnancy complications
• Premature rupture of membranes
• Uterine fragility
• Postpartum hemorrhage

Genetic Aspects

Inheritance Patterns:

• Autosomal Dominant
  • Classical EDS
  • Vascular EDS
  • Most common types
• Autosomal Recessive
  • Rare subtypes
  • Specific populations

Genetic Counseling:

• Family Planning
  • Recurrence risks
  • Prenatal testing options
  • Reproductive choices
• Testing Strategy
  • Sequential testing
  • Panel testing
  • Family screening