Ehlers-Danlos Syndromes

Key Points

Overview

Ehlers-Danlos syndromes (EDS) are a group of rare, inherited conditions that affect connective tissue. Connective tissues are the body's 'glue,' providing support to skin, joints, tendons, ligaments, blood vessels, and internal organs. When these tissues are weaker than they should be, it can lead to a wide range of symptoms. EDS is caused by faulty genes that make connective tissue weaker. These faulty genes can be passed down from one or both parents, or sometimes a new genetic mutation can occur for the first time in an individual. There are 13 known types of EDS, each with varying symptoms and severity, from relatively mild to life-threatening. While there is no specific cure for EDS, many symptoms can be managed effectively. Treatment focuses on supporting affected body parts, managing pain, and preventing complications. A team of healthcare professionals often works together to provide comprehensive care.

Signs and Symptoms

• Increased joint movement (hypermobility)
• Loose, unstable joints that dislocate easily
• Joint pain and clicking joints
• Stretchy skin
• Fragile skin that bruises or breaks easily
• Slow-healing wounds leaving wide scars
• Extreme tiredness (fatigue)
• Digestive problems like heartburn or constipation
• Dizziness and increased heart rate after standing
• Problems with internal organs (e.g., mitral valve issues, organ prolapse)
• Fragile blood vessels that can tear (in vascular EDS)
• Curvature of the spine (kyphoscoliosis)

Things That Increase the Risk

• Inherited genetic mutations
• Faulty gene from one parent (autosomal dominant inheritance)
• Faulty genes from both parents (autosomal recessive inheritance)
• New genetic mutation occurring for the first time

Diagnosis

• Review of medical history
• Physical examination by a doctor
• Referral to a joint specialist (rheumatologist)
• Referral to a genetics service for assessment
• Genetic blood tests (for certain EDS types)
• Specialist EDS diagnostic service evaluation

Treatment & Management

• Physiotherapy to strengthen joints and manage pain
• Occupational therapy for daily activity support
• Counselling or CBT for chronic pain management
• Regular scans to monitor internal organs (for certain types)
• Genetic counselling for understanding inheritance
• Avoiding activities that strain joints or risk injury
• Engaging in low-impact exercises like swimming or pilates
• Learning energy conservation techniques for fatigue

Prevention

• Early diagnosis for timely symptom management
• Genetic counselling for family planning
• Avoiding activities that put strain on joints
• Protecting fragile skin and tissues from injury
• Regular medical monitoring for potential complications

Related Diseases

• Hypermobility spectrum disorder (HSD)
• Scoliosis
• Mitral valve prolapse
• Chronic fatigue syndrome
• Gastroesophageal reflux disease

Available Treatments

Explore our range of treatment options for Ehlers-Danlos Syndromes:

Surgical Options

Learn about surgical procedures available for Ehlers-Danlos Syndromes: