A Guide to Living with Ehlers-Danlos Syndrome (Hypermobility Type)

1. Ehlers-Danlos Syndrome - Hypermobility Type (EDS-HT): A Complex Connective Tissue Disorder

"EDS-HT is a 'multisystemic disorder' (Grahame 2009a, p.4)."

Genetic basis. EDS-HT is a heritable connective tissue disorder caused by faulty collagen, the protein responsible for providing structure and support throughout the body. This genetic anomaly results in excessive joint flexibility and tissue laxity, affecting not just the musculoskeletal system but multiple body systems.

Widespread effects. The condition impacts:

• Joints: Hypermobility, instability, and increased risk of injury
• Skin: Fragility, easy bruising, and poor healing
• Cardiovascular system: Possible autonomic dysfunction
• Digestive system: Increased likelihood of gastrointestinal issues
• Nervous system: Impaired proprioception and increased pain sensitivity

Understanding the multisystemic nature of EDS-HT is crucial for both patients and healthcare providers, as it explains the wide range of symptoms and challenges faced by those with the condition.

2. Recognizing EDS-HT: Symptoms Beyond Joint Hypermobility

"Hypermobility could be described as a useful asset to dancers and performing artists because it often means that a person has improved flexibility and can achieve varied and interesting body postures (Simmonds and Keer 2007)."

Common symptoms. While joint hypermobility is the most recognized feature, EDS-HT presents with a constellation of symptoms:

• Chronic pain: Both localized and widespread
• Fatigue: Often debilitating and persistent
• Soft tissue injuries: Frequent sprains, strains, and dislocations
• Gastrointestinal issues: Including irritable bowel syndrome (IBS)
• Autonomic dysfunction: Such as postural orthostatic tachycardia syndrome (POTS)

Recognizing the spectrum. It's essential to understand that EDS-HT exists on a spectrum. Some individuals may experience minimal symptoms and excel in activities requiring flexibility, like dance or gymnastics. Others may face significant challenges in daily life due to pain, fatigue, and frequent injuries. This variability can make diagnosis challenging and highlights the importance of comprehensive evaluation.

3. Diagnosis and Measurement: The Beighton Score and Brighton Criteria

"The Brighton criteria are crucial to the diagnosis of EDS-HT because it is a multisystemic condition and so there are questions in the Brighton criteria relating to joints, skin and blood vessels as all these can be affected in patients with EDS-HT and are ultimately related to faulty collagen fibre structures, systemically (Russek 1999; Simpson 2006)."

Diagnostic tools. Two primary tools are used in diagnosing EDS-HT:

1. Beighton Score:

   • Measures joint hypermobility in specific areas
   • Scale of 0-9, with scores ≥4 indicating generalized joint hypermobility
   • Limited in scope as it only assesses a few joints

2. Brighton Criteria:

   • More comprehensive, addressing the multisystemic nature of EDS-HT
   • Includes major and minor criteria covering joint, skin, and other systemic features
   • Provides a more accurate diagnosis of EDS-HT vs. generalized joint hypermobility

Importance of expert evaluation. Given the complexity of EDS-HT, diagnosis is best made by a rheumatologist or geneticist experienced with connective tissue disorders. They can apply these diagnostic criteria in the context of a patient's full medical history and symptoms.

4. EDS-HT in Children and Adolescents: Early Intervention is Crucial

"Bottom shuffling and delayed walking might be indicative suggestions of joint hypermobility."

Early signs. Children with EDS-HT may show signs from infancy:

• Delayed motor milestones (e.g., late walking)
• Clumsiness and poor coordination
• Frequent falls and injuries
• Growing pains and fatigue

Developmental considerations. EDS-HT can impact a child's development in various ways:

• Physical: Affecting sports participation and physical education
• Academic: Potential difficulties with handwriting and fine motor skills
• Social: Challenges in keeping up with peers in physical activities

Intervention strategies. Early diagnosis and intervention are key to managing EDS-HT in children:

• Physiotherapy to improve strength and coordination
• Occupational therapy for fine motor skills and daily living activities
• Educational accommodations to support learning and participation
• Pain management techniques appropriate for children

Early recognition and support can significantly improve outcomes and quality of life for children with EDS-HT as they grow into adulthood.

5. Pain Management: A Multifaceted Approach for EDS-HT Patients

"Pain doesn't always equal damage."

Understanding EDS-HT pain. Pain in EDS-HT is complex and can be:

• Acute: From injuries or dislocations
• Chronic: Persistent pain from joint instability or tissue laxity
• Neuropathic: Resulting from nerve compression or sensitization

Management strategies. Effective pain management in EDS-HT requires a multidisciplinary approach:

1. Physical interventions:

   • Physiotherapy and targeted exercises
   • Bracing or taping for joint support
   • Heat or cold therapy

2. Medications:

   • Non-steroidal anti-inflammatory drugs (NSAIDs)
   • Pain modulators (e.g., gabapentin for neuropathic pain)
   • Careful use of opioids in severe cases

3. Psychological approaches:

   • Cognitive Behavioral Therapy (CBT)
   • Mindfulness and relaxation techniques
   • Pacing strategies to manage energy and activities

4. Complementary therapies:

   • Acupuncture
   • Massage (with caution due to tissue fragility)
   • Hydrotherapy

The goal is to improve function and quality of life, recognizing that complete pain elimination may not be achievable. Educating patients about pain mechanisms and self-management is crucial for long-term success.

6. The Psychological Impact of EDS-HT: Anxiety, Depression, and Self-Identity

"There is increasing evidence to suggest links with anxiety and EDS-HT."

Mental health challenges. Living with EDS-HT can significantly impact mental health:

• Anxiety: Often related to fear of injury or pain
• Depression: Stemming from chronic pain and functional limitations
• Identity issues: Adapting to life with a chronic condition

Underlying factors. The psychological impact of EDS-HT may be due to:

• Chronic pain and fatigue
• Unpredictability of symptoms
• Difficulty in obtaining diagnosis and understanding
• Social isolation and limitations in activities

Support strategies. Addressing mental health is crucial in EDS-HT management:

• Professional counseling or psychotherapy
• Support groups for connection with others with EDS-HT
• Cognitive Behavioral Therapy (CBT) for pain and anxiety management
• Mindfulness and relaxation techniques
• Education for family and friends to improve understanding and support

Recognizing and addressing the psychological aspects of EDS-HT is essential for comprehensive care and improved quality of life.

7. Physical Therapy and Exercise: Essential for Managing EDS-HT

"Physiotherapy is the mainstay and evidence-based therapy for EDS-HT (Simmonds and Keer 2007)."

Importance of movement. Despite the risk of injury, appropriate exercise is crucial for EDS-HT management:

• Improves joint stability and muscle strength
• Enhances proprioception and balance
• Helps manage pain and fatigue

Key principles. Effective physical therapy for EDS-HT focuses on:

1. Core stability and strength
2. Proprioceptive training
3. Gentle, controlled range of motion exercises
4. Low-impact cardiovascular conditioning

Exercise modalities. Beneficial activities may include:

• Pilates: Emphasizes core strength and controlled movement
• Swimming: Provides resistance with minimal joint stress
• Tai Chi: Improves balance and body awareness
• Specific physiotherapy exercises tailored to individual needs

Cautions. Exercise programs should be carefully designed and supervised to avoid:

• Overextension of hypermobile joints
• Overexertion leading to fatigue or injury
• High-impact or contact sports that increase injury risk

The goal is to find a balance between maintaining fitness and joint health while minimizing the risk of injury. Regular, gentle exercise is often more beneficial than intense, sporadic activity.

8. EDS-HT and Women's Health: Hormonal Influences and Pregnancy

"Although if we look at many with EDS-HT we might see their hypermobile joints, EDS-HT is otherwise a condition we might define as an 'invisible illness'."

Hormonal impact. Women with EDS-HT may experience fluctuations in symptoms related to hormonal changes:

• Menstrual cycle: Increased joint laxity and pain due to progesterone
• Pregnancy: Potential for increased joint instability and pain
• Menopause: Possible changes in symptom severity

Pregnancy considerations. EDS-HT can affect pregnancy and childbirth:

• Increased risk of joint instability and pain
• Potential for faster labor and delivery
• Higher risk of pelvic floor disorders postpartum

Management strategies:

• Careful monitoring during pregnancy
• Appropriate pain management during labor
• Pelvic floor physiotherapy before and after childbirth
• Consideration of hormonal treatments for symptom management

Healthcare providers should be aware of the impact of EDS-HT on women's health and provide appropriate support and management throughout different life stages.

9. Complementary Therapies: Supporting Conventional Treatment for EDS-HT

"Complementary therapies may well be helpful for some of the myriad of symptoms related to EDS-HT."

Potential benefits. Complementary therapies can offer additional support in managing EDS-HT symptoms:

• Pain relief
• Improved relaxation and stress management
• Enhanced body awareness

Common therapies. Approaches that may benefit EDS-HT patients include:

• Acupuncture: For pain management
• Massage therapy: With caution due to tissue fragility
• Mindfulness and meditation: For stress reduction and pain coping
• Bowen therapy: Gentle soft tissue manipulation
• Hydrotherapy: Exercises in warm water for joint support

Considerations. When exploring complementary therapies:

• Consult with your healthcare provider before starting any new treatment
• Choose practitioners experienced with EDS-HT or similar conditions
• Be cautious with manipulative therapies due to joint instability
• Monitor your response and report any adverse effects to your doctor

While complementary therapies can be beneficial, they should be used in conjunction with, not as a replacement for, conventional medical care for EDS-HT.

10. Living with EDS-HT: Strategies for Daily Life and Long-Term Management

"Living with EDS-HT is very much about management, of which you are the personal director."

Daily management. Strategies for living with EDS-HT include:

• Pacing activities to manage energy and prevent overexertion
• Using adaptive tools and ergonomic adjustments at home and work
• Maintaining a consistent sleep schedule and sleep hygiene
• Following a balanced diet to support overall health
• Practicing stress management techniques

Long-term considerations. Managing EDS-HT over time involves:

• Regular medical check-ups to monitor symptoms and adjust treatments
• Continuous education about

Last updated: September 11, 2024