Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders affecting collagen, which provides strength and structure to skin, joints, blood vessels, and organs.
There are 13 recognised types of EDS, with varying severity and symptoms.
🧠 Key Cause
EDS is caused by genetic mutations affecting:
- Collagen production
- Collagen structure
- Collagen-related proteins
Important note
- Most types are inherited
- Some cases occur spontaneously
- Hypermobile EDS (hEDS) currently has no known genetic marker
🧠 Main Symptoms
🤸♀️ Joint-related
- Joint hypermobility (over-flexible joints)
- Frequent dislocations or subluxations
- Joint instability
- Chronic joint pain
🧴 Skin-related
- Stretchy (hyperextensible) skin
- Fragile skin that bruises easily
- Slow or abnormal wound healing
- Thin or delicate tissue
🧠 System-wide symptoms
- Chronic fatigue
- Dizziness (especially when standing)
- Gastrointestinal issues
- Cardiovascular complications
🧠 Complications
⚠️ Severe risks (especially in vascular EDS)
- Blood vessel rupture (life-threatening)
- Organ rupture
- Internal bleeding
Long-term effects
- Chronic pain syndrome
- Reduced mobility
- Joint degeneration
- Orthostatic intolerance (dizziness on standing)
🧬 Types of EDS
EDS includes multiple subtypes, including:
- Hypermobile EDS (hEDS) – most common
- Classical EDS
- Vascular EDS (vEDS) – most severe
- Other rare genetic subtypes
🧪 Diagnosis
EDS is diagnosed through:
- Clinical examination of symptoms
- Family history review
- Genetic testing (for most types)
Important note
- hEDS currently has no confirmed genetic test, so diagnosis is clinical
🩺 Treatment and Management
There is no cure, but symptoms can be managed effectively.
Treatment options
- Physiotherapy (strengthens muscles, stabilises joints)
- Pain management (medication and therapies)
- Bracing or supports for joints
- Occupational therapy
- Lifestyle adjustments
Surgical care
- Sometimes used for joint or vascular issues
- Requires caution due to fragile tissues and healing difficulties
🧠 Living with EDS
People with EDS may experience:
- Fluctuating symptoms
- Chronic pain and fatigue
- Mobility challenges
- Need for long-term multidisciplinary care
Early diagnosis and support improve quality of life significantly.
🧠 Key Learning Summary
- EDS affects connective tissue and collagen
- It impacts joints, skin, blood vessels, and organs
- Symptoms vary widely between individuals
- Management focuses on support, not cure
- Chronic pain and fatigue are common long-term effects
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