Ehlers–Danlos Syndrome

Overview

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders affecting collagen, the protein that supports skin, joints, blood vessels and organs. People with EDS often have joint hypermobility, fragile or stretchy skin, and can experience pain, fatigue, and frequent injuries.

Common types include hypermobile EDS (hEDS), classical EDS (cEDS) and vascular EDS (vEDS).

---

Common Symptoms

• Joints: hypermobility, recurrent sprains/subluxations/dislocations, early osteoarthritis
• Pain & fatigue: widespread or activity-related pain, post-exertional fatigue
• Skin & soft tissue: soft/velvety or fragile skin, easy bruising, poor wound healing, hernias
• Autonomic & functional overlap: dizziness/faintness (possible POTS), GI dysmotility/IBS-type symptoms, headaches, proprioceptive issues
• Pelvic & bladder: pelvic floor dysfunction, stress incontinence
• Anxiety/low mood related to chronic pain and reduced function

---

When to seek urgent help (red flags)

Contact 999/A&E for people with suspected vascular EDS who develop:

• Sudden severe chest/abdominal/back pain, limb pain, or neurological symptoms (possible arterial dissection/rupture)
• Unexplained organ rupture, significant internal bleeding, or rapidly expanding bruising

---

Causes & risk factors

• Genetic connective tissue disorders; cEDS/vEDS usually have identifiable COL5A1/COL5A2 or COL3A1 variants
• hEDS is diagnosed clinically (2017 criteria) as no single gene has been confirmed
• Family history is common; symptoms can vary widely even within families

---

Diagnosis

• Clinical assessment: Beighton score and 2017 hEDS criteria, history of joint instability, skin/soft tissue features, systemic features
• Genetic testing: for cEDS, vEDS and other rarer subtypes (through clinical genetics)
• Associated conditions screening: autonomic dysfunction (e.g., POTS), pelvic floor problems, GI issues, anxiety/depression
• Imaging/echo only if indicated (e.g., suspected vascular involvement)

---

Treatment & management

There is no cure for EDS, but targeted support can markedly improve quality of life:

• Joint protection & stabilisation: graded strengthening, proprioceptive training, braces/taping when appropriate
• Pain management: paced activity, analgesia per clinician, pain education, sleep optimisation
• Skin & wound care: careful suturing techniques, scar care, hernia management
• Autonomic & GI support: hydration/salt strategies where advised, compression garments, dietitian input, bowel regime
• Pelvic health therapy for pelvic floor dysfunction
• Psychological support: coping skills, anxiety/low-mood strategies linked to chronic pain
• Surgery: only when necessary and with experienced teams (tissue fragility increases risk)

---

Rehabilitation at The Royal Buckinghamshire Hospital

Our multidisciplinary rehabilitation helps people with EDS manage pain, prevent injuries and maximise independence.

What we focus on

• Physiotherapy: joint stabilisation, motor control, graded strength/endurance, gait/balance retraining
• Occupational Therapy: pacing, activity modification, splinting/taping advice, workplace/school adaptations
• Pain & fatigue programme: pacing plans, flare management, sleep hygiene, return-to-activity pathways
• Psychology/Neuropsychology: pain coping skills, adjustment support, goal-based rehab

---

Who we help

• Recurrent sprains/subluxations/dislocations limiting daily life or sport
• Persistent pain, fatigue or dizziness affecting school, work or caregiving
• Complex presentations with POTS-like symptoms, GI dysmotility, pelvic floor issues
• Post-injury or post-surgical recovery where tissue fragility complicates rehab