Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome represents a group of inherited connective tissue disorders caused by defects in collagen structure or processing. These conditions affect the strength and elasticity of connective tissues throughout the body, leading to characteristic features including joint hypermobility, skin hyperextensibility, and tissue fragility. The severity and specific symptoms vary widely depending on the type of EDS and individual factors.

⚠️ Medical Emergency

Seek immediate emergency care for: sudden severe pain (may indicate arterial rupture in vascular EDS), severe abdominal pain, signs of internal bleeding, pregnancy complications, or unexplained shortness of breath. Vascular EDS can cause life-threatening complications.

Medical Disclaimer: This information is for educational purposes only and should not replace professional medical advice. Always consult with a qualified healthcare provider for diagnosis and treatment of any medical condition.

Understanding EDS

The 2017 International Classification recognizes 13 types of EDS, each with distinct genetic causes and clinical features. All types involve genetic defects affecting collagen or collagen-modifying enzymes, resulting in weakened connective tissue throughout the body.

Key Features

  • Affects approximately 1 in 5,000 people globally
  • Most types inherited in autosomal dominant pattern
  • Wide spectrum of severity
  • Often underdiagnosed or misdiagnosed
  • No cure, but management improves quality of life
  • Requires multidisciplinary care approach

Types of EDS

Major Types

1. Hypermobile EDS (hEDS)

  • Most common type
  • Generalized joint hypermobility
  • Chronic pain
  • No identified genetic marker yet
  • Diagnosed clinically
  • Often associated with POTS and MCAS

2. Classical EDS (cEDS)

  • Skin hyperextensibility
  • Atrophic scarring
  • Joint hypermobility
  • COL5A1 or COL5A2 mutations
  • Smooth, velvety skin
  • Molluscoid pseudotumors

3. Vascular EDS (vEDS)

  • Most serious type
  • Arterial/organ rupture risk
  • Thin, translucent skin
  • COL3A1 mutations
  • Median life expectancy 48 years
  • Requires careful monitoring

4. Kyphoscoliotic EDS (kEDS)

  • Progressive scoliosis
  • Muscle hypotonia at birth
  • Eye globe fragility
  • PLOD1 or FKBP14 mutations

Rare Types

  • Arthrochalasia EDS: Severe joint hypermobility, congenital hip dislocation
  • Dermatosparaxis EDS: Extreme skin fragility, sagging skin
  • Brittle Cornea Syndrome: Corneal thinning and rupture
  • Spondylodysplastic EDS: Short stature, muscle hypotonia
  • Musculocontractural EDS: Congenital contractures
  • Myopathic EDS: Muscle weakness
  • Periodontal EDS: Early severe periodontitis
  • Cardiac-valvular EDS: Progressive cardiac valve problems

Signs and Symptoms

Joint Features

  • Hypermobility:
    • Joints extend beyond normal range
    • Beighton score ≥5/9 often positive
    • Small and large joints affected
  • Instability:
    • Frequent dislocations/subluxations
    • Chronic joint pain
    • Early osteoarthritis
    • Proprioception problems

Skin Features

  • Hyperextensibility: Stretches easily and snaps back
  • Fragility: Tears or bruises easily
  • Abnormal scarring: Wide, atrophic scars
  • Texture: Soft, velvety, doughy
  • Striae: Without weight changes
  • Easy bruising: Often without trauma

Cardiovascular Features

  • Mitral valve prolapse
  • Aortic root dilation
  • Arterial rupture (vascular type)
  • Varicose veins
  • POTS (postural orthostatic tachycardia)
  • Blood pressure instability

Gastrointestinal Features

  • Gastroesophageal reflux
  • Irritable bowel syndrome
  • Gastroparesis
  • Constipation
  • Hernias
  • Rectal prolapse

Other Common Features

  • Fatigue: Often severe and disabling
  • Headaches: Including migraines
  • TMJ dysfunction: Jaw problems
  • Dental: Crowded teeth, high palate
  • Eye: Myopia, blue sclera
  • Gynecological: Heavy periods, prolapse
  • Urological: Bladder dysfunction
  • Sleep: Disrupted sleep patterns

Diagnosis

Clinical Evaluation

  • Medical history:
    • Joint problems
    • Skin features
    • Family history
    • Complications
  • Physical examination:
    • Beighton score assessment
    • Skin examination
    • Scar assessment
    • Joint stability testing

Diagnostic Criteria

Hypermobile EDS (2017 Criteria)

Must meet all three criteria:

  1. Criterion 1: Generalized joint hypermobility
  2. Criterion 2: Two or more of:
    • Feature A: Systemic manifestations
    • Feature B: Positive family history
    • Feature C: Musculoskeletal complications
  3. Criterion 3: Exclusion of other disorders

Genetic Testing

  • Available for all types except hEDS
  • Panel testing recommended
  • Important for vascular type
  • Genetic counseling advised

Additional Testing

  • Imaging:
    • Echocardiogram
    • Vascular imaging for vEDS
    • Joint MRI if needed
  • Skin biopsy: Rarely needed
  • Autonomic testing: For POTS

Management and Treatment

Treatment focuses on preventing complications and managing symptoms:

Joint Protection

  • Physical therapy:
    • Strengthening exercises
    • Proprioception training
    • Low-impact activities
    • Avoid hyperextension
  • Assistive devices:
    • Braces for unstable joints
    • Ring splints for fingers
    • Compression garments
    • Mobility aids as needed

Pain Management

  • Multimodal approach:
    • Physical therapy
    • Medications (NSAIDs with caution)
    • Cognitive behavioral therapy
    • Mindfulness techniques
  • Avoid:
    • High-impact activities
    • Contact sports
    • Repetitive motions

Skin Care

  • Gentle handling during medical procedures
  • Careful wound closure techniques
  • Sun protection
  • Moisturizers for dry skin
  • Avoid unnecessary surgery

Cardiovascular Management

  • Regular monitoring:
    • Annual echocardiogram
    • Blood pressure control
    • Vascular imaging for vEDS
  • Medications:
    • Beta-blockers for aortic dilation
    • Blood pressure management

Type-Specific Management

Vascular EDS

  • Avoid invasive procedures when possible
  • Blood pressure control crucial
  • Celiprolol may reduce events
  • Emergency plan essential
  • Pregnancy high-risk

Classical EDS

  • Protective padding for knees/elbows
  • Careful suturing techniques
  • Ascorbic acid may help wound healing

Living with EDS

Daily Adaptations

  • Pace activities to manage fatigue
  • Use ergonomic tools
  • Modify home environment
  • Plan rest periods
  • Stay hydrated
  • Maintain stable temperature

Exercise Guidelines

  • Recommended:
    • Swimming/water therapy
    • Tai chi
    • Pilates (modified)
    • Walking
    • Stationary cycling
  • Avoid:
    • High-impact sports
    • Contact sports
    • Heavy weightlifting
    • Extreme stretching

Medical Care Considerations

  • Inform all providers about EDS
  • Request gentle handling
  • May need special anesthesia considerations
  • Dental care requires extra caution
  • Surgery planning needs special attention

Emergency Preparedness

  • Wear medical alert identification
  • Carry emergency information
  • Have emergency plan for vEDS
  • Educate family members
  • Keep medical records accessible

Special Considerations

Pregnancy

  • High-risk pregnancy for most types
  • Preconception counseling essential
  • Increased risk of:
    • Premature rupture of membranes
    • Preterm delivery
    • Postpartum hemorrhage
    • Pelvic organ prolapse
    • Arterial rupture (vEDS)
  • Specialized obstetric care needed

Children with EDS

  • Early diagnosis important
  • School accommodations may be needed
  • Physical therapy from young age
  • Protect from injuries
  • Monitor growth and development
  • Psychological support

Associated Conditions

  • POTS: Postural orthostatic tachycardia
  • MCAS: Mast cell activation syndrome
  • Dysautonomia: Autonomic dysfunction
  • Chiari malformation: Brain herniation
  • Craniocervical instability: Skull-spine junction
  • Tethered cord: Spinal cord abnormality

Prognosis and Outlook

Life Expectancy

  • Most types: Normal lifespan
  • Vascular EDS: Median 48 years
  • Key factors:
    • Type of EDS
    • Severity of symptoms
    • Access to appropriate care
    • Complication prevention

Quality of Life

  • Variable between individuals
  • Chronic pain common challenge
  • Many lead fulfilling lives
  • Adaptations enable participation
  • Support networks crucial

Research and Future

  • Gene therapy research ongoing
  • Better understanding of hEDS genetics
  • New treatment approaches
  • Improved diagnostic tools
  • Growing awareness among providers