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What is Ehler’s Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders characterised by joint hypermobility, skin elasticity, and tissue fragility. The condition affects the proteins responsible for providing strength and elasticity to connective tissues, which are essential for maintaining the structure and function of skin, joints, blood vessels, and other organs. EDS can range in severity from mild symptoms to life-threatening complications, depending on the subtype.

There are 13 different classifications of EDS with some symptoms experienced across multiple sub-groups and others specific to individual types. Joint hypermobility exists in most types of EDS however not everyone with EDS will exhibit joint hypermobility. Hypermobile EDS is the most common form of EDS accounting for 90% of diagnoses. Skin changes are also a key feature of EDS. Skin hyperextensibility (stretch) is greater than 1.5cm and can increase beyond this in specific EDS sub-types. Other changes include fragility of the skin, increased timeframe for wound healing and unusual scarring.

Signs & Symptoms

The symptoms of Ehlers-Danlos Syndrome vary depending on the subtype but generally include:

  • Joint hypermobility: Excessive flexibility in joints, leading to frequent dislocations, sprains, and pain.
  • Skin elasticity: Soft, velvety skin that stretches more than usual and may sag.
  • Bruising: Easy bruising or spontaneous bruising due to fragile blood vessels.
  • Delayed wound healing: Wounds may heal slowly and leave widened or unusual scars.
  • Chronic pain: Persistent musculoskeletal pain due to joint instability and tissue strain.
  • Gastrointestinal issues: Symptoms like constipation, diarrhoea, or irritable bowel syndrome.
  • Cardiovascular complications: Fragility of arteries, leading to aneurysms or dissections in severe cases.
  • Fatigue: Due to the chronic nature of the condition and constant physical strain.

Some subtypes, such as vascular EDS, present with more severe symptoms, including life-threatening complications like arterial ruptures.

Causes and Contributing Factors

Ehlers-Danlos Syndrome is caused by genetic mutations affecting collagen or proteins that interact with collagen. Collagen is the primary structural protein in connective tissues, and its dysfunction leads to the symptoms of EDS.

Genetic Factors:

  • Most types of EDS are inherited in an autosomal dominant manner, meaning only one copy of the defective gene is necessary for the condition.
  • Some subtypes, like the classical and vascular forms, may follow an autosomal recessive inheritance pattern, requiring two copies of the gene.

Contributing Factors:

  • While EDS is genetic, symptoms can be worsened by lifestyle factors:
    • Repetitive strain or overuse of joints.
    • Poor posture or biomechanics.
    • Lack of physical activity, which weakens muscles and exacerbates joint instability.

Grading

EDS is classified into 13 subtypes, each with distinct genetic and clinical features. The most common and relevant subtypes include:

  1. Hypermobile EDS (hEDS):
    • Most common subtype.
    • Primarily affects joints with hypermobility and chronic pain.
    • Does not have a specific genetic marker, making diagnosis based on clinical criteria.
  2. Classical EDS (cEDS):
    • Marked by stretchy, fragile skin and widespread joint hypermobility.
    • Typically caused by mutations in the COL5A1 or COL5A2 genes.
  3. Vascular EDS (vEDS):
    • The most severe form, associated with life-threatening complications like arterial ruptures.
    • Caused by mutations in the COL3A1 gene.
  4. Kyphoscoliotic EDS (kEDS):
    • Characterised by severe spinal curvature and muscle weakness.
    • Linked to mutations in the PLOD1 gene.
  5. Arthrochalasia EDS (aEDS):
    • Severe joint hypermobility and frequent dislocations.
    • Caused by mutations in the COL1A1 or COL1A2 genes.

Each subtype is defined by specific genetic mutations, clinical features, and inheritance patterns. Hypermobile EDS (hEDS) is the most common subtype, while others, like vascular EDS (vEDS) and classical EDS (cEDS), are less common but often more severe in their complications.

Process of Diagnosis

Diagnosing Ehlers-Danlos Syndrome can be complex, as it involves multiple systems and varies by subtype. A thorough clinical evaluation, genetic testing, and family history are often required.

Clinical Evaluation

  • History and Symptoms: A detailed review of symptoms, including joint hypermobility, skin elasticity, and fragility, is essential. The patient’s medical and family history is also evaluated for hereditary patterns.
  • Physical Examination:
    • Assessment of joint hypermobility using the Beighton Score, a 9-point scale that measures flexibility in major joints.
    • Examination of skin features such as hyperextensibility, bruising, and scarring.

Genetic Testing

  • Molecular genetic testing can confirm specific subtypes by identifying mutations in genes related to collagen or other connective tissue proteins.
  • Not all subtypes, particularly hypermobile EDS (hEDS), have identified genetic markers, so diagnosis for these forms relies on clinical criteria.

Diagnostic Criteria for hEDS

For hypermobile EDS, the diagnosis is made based on:

  1. Generalised joint hypermobility (Beighton Score).
  2. Systemic features such as stretchy skin, chronic pain, or family history of EDS.
  3. Absence of other connective tissue disorders or specific genetic markers.

Differential Diagnosis

EDS symptoms overlap with other conditions such as Marfan syndrome, Loeys-Dietz syndrome, and fibromyalgia. A precise diagnosis is crucial for appropriate management, often requiring input from specialists such as geneticists, rheumatologists, or cardiologists.

Prognosis

The prognosis for EDS varies by subtype:

  • Hypermobile and classical forms: Often manageable with appropriate care, though they may cause chronic pain and functional limitations.
  • Vascular EDS: Carries a risk of serious complications, requiring careful monitoring and management.
  • Milder forms: Many people lead relatively normal lives with appropriate adjustments and treatments.

While EDS cannot be cured, symptom management and regular monitoring can significantly improve quality of life and reduce complications.

Treatment

Treatment for Ehlers-Danlos Syndrome focuses on managing symptoms, preventing complications, and improving quality of life. A multidisciplinary approach involving physiotherapists, medical specialists, and other health professionals is ideal.

Medical Management

  • Medications: Pain management with paracetamol, NSAIDs, or in some cases, prescribed pain relievers. Avoiding long-term use of opioids is recommended.
  • Monitoring for complications: Cardiovascular assessments for vEDS and regular check-ups for gastrointestinal or orthopaedic issues.

Physiotherapy and Rehabilitation

Physiotherapy plays a key role in managing EDS. The primary goals are to strengthen muscles, improve joint stability, and enhance overall function.

  • Strengthening exercises: Focus on low-impact activities to build muscle strength and support joint stability without overloading joints. Examples include resistance band exercises and Pilates.
  • Proprioception training: Enhances body awareness to reduce the risk of dislocations or falls.
  • Joint protection strategies: Training in safe movement patterns to minimise strain on joints during daily activities.
  • Pain management techniques:
    • Taping or bracing for additional support during flare-ups.
    • Modalities like heat, ice, or gentle massage for symptom relief.
  • Aquatic therapy: Low-impact exercises in water to strengthen muscles without putting stress on joints.

Lifestyle and Support

  • Occupational therapy: Helps with assistive devices or ergonomic adjustments to reduce strain in everyday activities.
  • Education and self-management:
    • Encouraging pacing activities to avoid overuse injuries.
    • Proper footwear and supportive equipment to reduce joint stress.
  • Psychological support: Addressing the emotional impact of chronic pain and physical limitations, often with counselling or mindfulness-based approaches.

Surgical Interventions

Surgery is generally avoided due to tissue fragility in EDS, but in rare cases, it may be necessary for severe joint instability or complications like arterial ruptures. Recovery can be prolonged, requiring close monitoring and specialised care.

Information is provided for education purposes only. Always consult your physiotherapist or other health professional.