Ehlers-Danlos Syndrome (EDS) is a group of 13 genetically inherited connective tissue disorders that impair the structure and function of collagen, a crucial protein responsible for providing strength, support, and elasticity to skin, joints, ligaments, blood vessels, and organs. Once considered a rare condition, EDS now affects an estimated 1 in 5,000 people worldwide, with Hypermobile EDS (hEDS) representing over 90% of all cases.
What is Ehlers-Danlos Syndrome (EDS)?
EDS encompasses a spectrum of multisystemic disorders that share defective collagen or collagen-related processes. These abnormalities result in fragile, hyper-elastic tissues, making the body more prone to joint instability, skin fragility, delayed wound healing, and even life-threatening vascular events in severe types.
The manifestations of EDS are highly variable, ranging from seemingly benign joint flexibility to arterial rupture and organ perforation. As a connective tissue disorder, EDS can involve the musculoskeletal system, cardiovascular system, digestive system, neurological pathways, and even mental health.
Types of Ehlers-Danlos Syndrome
The 13 recognized subtypes of EDS are classified according to their distinct genetic causes and clinical features. Diagnosis is often determined through clinical evaluation, and for many types, genetic testing confirms the mutation.
Most Common EDS Types
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Hypermobile EDS (hEDS)
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Accounts for over 90% of EDS diagnoses
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Characterized by generalized joint hypermobility, chronic musculoskeletal pain, and autonomic symptoms
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Currently, no genetic marker is identified
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Classical EDS (cEDS)
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Features hyperextensible skin, atrophic scarring, and joint laxity
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Associated with mutations in COL5A1 and COL5A2
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Vascular EDS (vEDS)
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Most severe form, with arterial, intestinal, and uterine fragility
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Caused by mutations in COL3A1, affecting type III collagen
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Associated with short stature, thin translucent skin, and a high risk of sudden death
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Rarer Types Include:
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Kyphoscoliotic EDS (kEDS)
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Arthrochalasia EDS (aEDS)
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Dermatosparaxis EDS (dEDS)
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Musculocontractural EDS (mcEDS)
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Myopathic EDS (mEDS)
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Cardiac-valvular EDS (cvEDS)
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Periodontal EDS (pEDS)
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Brittle Cornea Syndrome (BCS)
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Spondylodysplastic EDS (spEDS)
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Classical-like EDS (clEDS)
Primary Symptoms of Ehlers-Danlos Syndrome
The clinical presentation of EDS varies by type, but there are core symptoms observed across multiple subtypes:
Musculoskeletal Manifestations
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Generalized Joint Hypermobility (GJH)
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Joint Dislocations and Subluxations (particularly shoulders, knees, hips, and fingers)
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Chronic Joint and Muscle Pain
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Frequent Sprains and Soft Tissue Injuries
Dermatological Features
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Hyperextensible (Stretchy) Skin
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Fragile, Velvety Skin Texture
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Poor Wound Healing and Atrophic Scarring
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Easy Bruising
Cardiovascular and Autonomic Symptoms
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Postural Orthostatic Tachycardia Syndrome (POTS)
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Mitral Valve Prolapse
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Aortic Root Dilation
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Vascular Fragility (especially in vEDS)
Gastrointestinal Issues
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Gastroesophageal Reflux Disease (GERD)
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Irritable Bowel Syndrome (IBS)
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Hernias
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Gastroparesis
Neurological and Psychological Features
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Headaches and Migraines
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Sleep Disturbances
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Sensory Sensitivities
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Fatigue
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Anxiety and Depression
Life-Threatening Complications
Some types of EDS carry grave health risks. These complications require urgent and lifelong monitoring:
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Arterial and Organ Rupture (vEDS)
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Aortic Dissection
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Uterine Rupture During Childbirth
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Cervical Instability and Chiari Malformation
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Severe Gastrointestinal Bleeding
Diagnosis of Ehlers-Danlos Syndrome
1. Clinical Assessment
Diagnosis begins with a detailed physical examination and review of medical history. For hEDS, a diagnosis of exclusion is necessary as there is no genetic test currently available.
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Beighton Score: A 9-point scale for assessing joint hypermobility
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Skin Evaluation: Checking for elasticity, bruising, and scarring
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Systemic Symptom Review: Including cardiovascular, gastrointestinal, and neurological features
2. Genetic Testing
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Essential for confirming rarer subtypes
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Involves testing DNA from blood or saliva
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Targets known mutations in collagen-related genes
3. Diagnostic Criteria for hEDS (2017 Revised Criteria)
To diagnose hypermobile EDS, all three criteria must be met:
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Generalized Joint Hypermobility (age-adjusted Beighton Score)
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Two or more of the following:
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Family history
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Systemic manifestations of connective tissue disorder
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Musculoskeletal complications
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Exclusion of other conditions such as Marfan syndrome or autoimmune disorders
Treatment and Management
There is no known cure for EDS, but with proactive, multidisciplinary care, many symptoms can be managed effectively.
Conservative Treatments
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Physical Therapy
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Muscle strengthening without overloading joints
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Low-impact exercises like swimming or pilates
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Proprioception training to reduce injury risk
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Occupational Therapy
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Energy conservation techniques
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Adaptive equipment (braces, splints, grabbers)
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Pain Management
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NSAIDs and paracetamol
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Anticonvulsants for nerve pain
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Trigger point therapy
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Psychological support for chronic pain management
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Cardiovascular Monitoring
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Annual echocardiograms
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Holter monitoring for arrhythmias
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Management of blood pressure to reduce vascular risk
Nutritional and Gastrointestinal Support
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Specialised diets (low-FODMAP, gastroparesis-friendly)
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Nutritional supplements
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Hydration and salt for POTS management
Mental Health Care
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Cognitive behavioural therapy (CBT)
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Support groups and community engagement
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Mindfulness and pacing strategies
Living With Ehlers-Danlos Syndrome
Living with EDS often means coping with an invisible illness, where external appearance does not reflect internal suffering. Many individuals spend years misdiagnosed, often dismissed with psychosomatic explanations.
Key Lifestyle Adjustments
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Avoiding high-impact and repetitive movements
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Wearing joint supports or compression gear
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Prioritising sleep and reducing daily stressors
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Pacing activities to avoid flares
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Maintaining a network of supportive healthcare providers
Celebrities Living with EDS
Several high-profile individuals have openly discussed their diagnosis, helping reduce stigma and increase public awareness:
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Billie Eilish – Addressed her hypermobility and chronic injury issues
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Halsey – Diagnosed with EDS, MCAS, and POTS
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Sia – Shared her diagnosis and struggles with chronic pain
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Jameela Jamil – Vocal about her symptoms and medical gaslighting
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Selma Blair – Revealed EDS alongside MS
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Yvie Oddly – Discussed EDS on national television
Raising Awareness and Moving Forward
The medical landscape is improving as more professionals become familiar with EDS. Early diagnosis, patient advocacy, and increased genetic research are transforming the outlook for those living with this condition. With more interdisciplinary collaboration, holistic management, and public education, we are moving toward a future where EDS is no longer misunderstood or ignored.
If you suspect EDS, it’s critical to document symptoms thoroughly, consult specialists familiar with connective tissue disorders, and connect with support groups. A diagnosis can be life-changing—not just for treatment, but for validation, planning, and empowerment.
