Ehlers-Danlos Syndrome (EDS) is a group of rare, inherited disorders that affect the connective tissues in the body, including skin, joints, and blood vessels.
Connective tissues provide structure and support, helping to keep body systems and processes operating well and efficiently. They can be thought of as the body’s essential scaffolding. In EDS, these connective tissues are weaker or more elastic than they should be, caused by mutations in the genes that produce the protein collagen; one of its functions being to strengthen connective tissues.
Sufferers of EDS may experience various issues, including hyper-flexible/mobile joints (which are often painful and easily dislocate), and skin that is stretchy and fragile, meaning it is liable to break or bruise easily. There are different types of EDS; the most common type being hypermobile. Other symptoms may include extreme fatigue, digestive problems, issues with internal organs. The severity of EDS varies from person to person and can range from mild to life-threatening depending on the symptoms experienced. For those with the syndrome, pain, discomfort, and risk of injury can impact daily life and functioning significantly. These physical difficulties and managing them often cause further mental and emotional distress.
Currently, there is no cure for EDS; rather, treatments focus on individual management of symptoms and prevention of complications. Physical therapy is often crucial to strengthen muscles around joints to reduce pain and likelihood of dislocation, and lifestyle adjustments are also important, such as avoiding strenuous activity and using protective measures such as braces. Incorporating the input of occupational therapists and other professionals into care can be crucial. For those with more severe forms and symptoms, medical monitoring is key to avoid serious complications.
However, research is ongoing to further understanding of the genetic causes of EDS, and to develop treatments centred on the production of collagen, which may include utilisation of pioneering methods such as gene therapies. Improving diagnostic techniques, and increased education and awareness around the condition can also enable earlier and better identification and management.
Further information and resources
Recommended books
- “A Guide to Living with Ehlers-Danlos Syndrome (Hypermobility Type): Bending without Breaking (2nd edition)” by Isobel Knight – Written by someone with lived experience of EDS, this is a comprehensive manual to the condition and its management, integrating current research and scientific understanding.
- “Joint Hypermobility Handbook 10th Anniversary Edition: A Guide for the Issues & Management of Ehlers-Danlos Syndrome Hypermobility Syndrome” by Brad T Tinkle – Tinkle, a clinical geneticist who specialises in connective tissue disorders, writes informatively and coherently about EDS; an ideal read for those living with the condition and their support systems.
- “Bendy Wendy and the (Almost) Invisible Genetic Syndrome: A story of one tween's diagnosis of Ehlers-Danlos Syndrome / joint hypermobility” by Brad T Tinkle and Laurren Darr – Designed for children and families affected by EDS, this thoughtfully written and illustrated book is a gentle, educational introduction to the syndrome.
