A Basic Guide to Ehlers-Danlos Syndrome
- Millie Bridger
- May 5
- 6 min read
In celebration of EDS Awareness Month (May), this help guide aims to provide you with all the essential information you need to understand Ehlers-Danlos Syndrome (EDS). EDS is a group of 13 rare genetic connective tissue disorders that affect the body's collagen, which is vital for providing strength and flexibility across various tissues and organs. As a result, EDS can cause a wide spectrum of symptoms, including joint hypermobility, chronic pain, cardiovascular issues, and tissue fragility. Whether you are newly diagnosed, caring for a loved one, or seeking to deepen your understanding of the condition, this guide offers insights into how EDS impacts different body systems, how it is diagnosed, managed, and the resources available to support you in the UK. Our goal is to empower you with knowledge to help navigate the challenges of EDS with confidence and hope.
Understanding Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a group of rare inherited conditions that affect the body's connective tissues, which provide support and structure to the skin, joints, blood vessels, and organs. In EDS, genetic mutations disrupt the normal production of collagen, a key protein in connective tissues, leading to symptoms like overly flexible joints, stretchy skin, and fragile tissues.
The severity and specific symptoms of EDS can vary widely among individuals, depending on the subtype of the condition. Some people may experience mild symptoms, while others may face more significant health challenges. Understanding the specific subtype of EDS is crucial, as each type presents unique challenges and requires tailored management strategies.
Most common subtypes
Hypermobile EDS (hEDS): Characterised by joint hypermobility, chronic pain, and frequent dislocations. The exact genetic cause remains unidentified, making diagnosis reliant on clinical criteria.
Classical EDS (cEDS): Features include highly elastic, fragile skin that bruises easily, and joint hypermobility. Often associated with mutations in the COL5A1 or COL5A2 genes.
Vascular EDS (vEDS): The most severe form, involving thin, translucent skin, arterial and organ fragility, and a high risk of life-threatening complications. Caused by mutations in the COL3A1 gene.
Kyphoscoliotic EDS: Characterised by congenital muscle hypotonia, progressive scoliosis, and fragile eyes and arteries. Results from mutations in the PLOD1 gene.
Recognising Symptoms and Associated Conditions
The signs of EDS can affect multiple systems, often fluctuating in severity. Awareness of these symptoms helps in early diagnosis and management.
Common Symptoms
Understanding these manifestations enables early recognition and proactive care, here are some of the following common symptoms someone may experience;
Joint Issues: Hypermobility, frequent dislocations or subluxations, early-onset osteoarthritis, and chronic joint pain.
Skin Abnormalities: Hyperextensible (stretchy) skin, easy bruising, poor wound healing, and atrophic scarring.
Cardiovascular Concerns: In vEDS, heightened risk of arterial rupture, aneurysms, and organ perforation.
Gastrointestinal Issues: Chronic constipation, abdominal pain, and irritable bowel syndrome are common.
Autonomic Dysfunction: Symptoms like dizziness, fainting, and rapid heartbeat upon standing, often associated with conditions like Postural Orthostatic Tachycardia Syndrome (POTS).
Related Conditions
EDS is often associated with other conditions that can complicate diagnosis and management. Being aware of the following related conditions can help in comprehensive care planning;
Mast Cell Activation Syndrome (MCAS): Can cause allergic-type reactions and gastrointestinal symptoms.
Chiari Malformation: Structural defect in the cerebellum, potentially leading to headaches and balance issues.
Temporomandibular Joint Disorders (TMJ): Jaw pain and dysfunction.
Diagnosing EDS
Diagnosing EDS can be complex and often involves a combination of clinical evaluation and, in some cases, genetic testing. An early and accurate diagnosis is crucial to ensure appropriate management, prevent complications, and improve quality of life.
Clinical Assessment
The diagnostic process typically begins with a thorough clinical assessment by a healthcare professional familiar with connective tissue disorders. This may include:
Beighton Score – A simple, standardised tool used to assess generalised joint hypermobility, which is a key feature in many forms of EDS.
Family History – Understanding patterns of similar symptoms or diagnoses in close relatives can help identify hereditary forms of EDS.
Physical Examination – A detailed examination may look at skin texture and elasticity, presence of unusual scarring, joint stability, and other systemic signs associated with EDS.
Genetic Testing
Genetic testing may be used to confirm a diagnosis for certain subtypes of EDS, particularly those with known genetic markers, such as vascular EDS or classical EDS. However, it’s important to note that for hypermobile EDS (hEDS), no specific genetic test is currently available, so diagnosis remains clinical based on established criteria.
Managing EDS: A Multidisciplinary Approach
Effective treatment is tailored to each person's symptoms and involves a team of healthcare professionals.
Key Management Strategies
Physiotherapists: Develop tailored exercise programs to strengthen muscles and improve joint stability.
Occupational Therapists: Assist with daily activities and recommend adaptive equipment.
Pain Specialists: Provide strategies for managing chronic pain.
Genetic Counsellors: Offer information on inheritance patterns and family planning.
Healthy Lifestyle: Maintaining a nutritious diet, regular gentle activity, and good sleep routines enhance overall health.
Self-Management Strategies
Pacing: Balancing activity and rest to prevent overexertion.
Joint Protection: Using braces or supports to prevent injuries.
Pain Management: Utilising medications, heat therapy, and relaxation techniques.
Nutrition: Maintaining a balanced diet to support overall health.
Sleep Hygiene: Establishing routines to improve sleep quality.
Mental Health and Emotional Well-being
Counselling and Therapy: Engaging with mental health professionals can help manage anxiety, depression, and the emotional toll of chronic illness.
Support Groups: Connecting with others who understand your experiences can provide comfort and practical advice. You can join my very own support group “Finding Happiness, Together” starting in June by clicking here
Mindfulness and Relaxation Techniques: Practices such as meditation, deep breathing, and yoga can help manage stress and improve overall mental well-being.
Daily Living and Lifestyle Adjustments
Living with EDS often requires lifestyle modifications to reduce injury risk, support mobility, and promote overall well-being.
Physical Activity and Movement
Staying physically active is important for preserving strength and joint stability, but it’s essential to choose gentle, low-impact exercises that won’t place undue stress on your joints. Activities like swimming, water aerobics, gentle yoga, walking, and Pilates can be particularly beneficial. These help improve muscle tone, flexibility, and circulation while minimising the risk of joint strain or dislocation. High-impact sports, heavy lifting, or exercises involving sudden or extreme movements are generally best avoided. Consulting a physiotherapist familiar with EDS is highly recommended to help develop a personalised and safe exercise plan.
Work, Education, and Daily Responsibilities
Adjusting your work or study environment can make a significant difference in managing EDS day-to-day. In the workplace, reasonable adjustments such as flexible hours, ergonomic seating, or assistive equipment can help reduce fatigue and physical strain. In educational settings, students may be eligible for support like extra exam time, help with note-taking, or classroom accessibility adjustments. Open communication with employers, educators, or support services is key to fostering understanding and ensuring appropriate accommodations are in place.
Creating a Supportive Home Environment
Your home should be a safe and accessible space. Simple changes—like installing grab bars in bathrooms, using non-slip mats, ensuring commonly used switches and sockets are within easy reach, and arranging furniture to allow clear pathways—can greatly reduce the risk of injury. Investing in ergonomic tools, supportive seating, or kitchen aids can also ease physical demands during routine tasks.
Using Assistive Devices
Braces, splints, orthotics, or supportive footwear may help stabilise joints and manage pain during daily activities. These devices can enhance mobility and reduce the likelihood of overuse injuries or dislocations. An occupational therapist or physiotherapist can guide you in selecting the most appropriate aids for your specific needs.
Support and Resources
Connecting with trusted organisations and community networks can offer emotional support, practical advice, and up-to-date information about managing EDS.
Ehlers-Danlos Support UK (EDS UK): The UK's leading charity for EDS and Hypermobility Spectrum Disorder (HSD), offering a free helpline, over 50 local and online support groups, educational resources, and advocacy for improved care and research.
The Ehlers-Danlos Society: Provides global resources, latest research updates, and support networks for people with EDS, focusing on increasing awareness and improving care standards worldwide.
Hypermobility Syndromes Association (HMSA): Supports individuals with hypermobility, providing information, peer support, and advocacy work.
Local Support Groups: Search for community groups and online forums tailored to your region or interests, offering shared experiences, emotional support, and practical tips on living with EDS.
Online Communities: Forums, social media groups, and webinars can connect you with others across the UK and beyond, fostering a sense of community and shared understanding.
