Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders, most commonly affecting the joints or skin. It involves a defect with the protein collagen, which normally functions to provide strength and elasticity to tissue. EDS can manifest in many different ways and affect many body systems and parts (due to the prevalence of collagen), including skin, muscles, tendons,ligaments, blood vessels, organs, gums, eyes, etc.
There are different types of EDS, defined by a genetic mutation in all but the Hypermobile Type. All forms of EDS are rare, with the exception of the Hypermobile type, which is thought to affect as many as 1/1,000 people.
Each type of EDS has its own diagnostic criteria. Since it is a hereditary disorder, genetic testing is available to help diagnose the rarer forms. However, the most prevalent type – Hypermobile EDS – is currently only diagnosable through clinical testing. There is no cure for EDS, but there are many management options that those with EDS find helpful. Though management is highly individualised since EDS appears in so many different forms, Some common treatment methods include physical and occupational therapy for joint pain, diet and wearing protective clothing to shield fragile skin from damage.
The symptoms of EDS vary widely according to the individual. Often joints can become hypermobile, loose/unstable or painful, or one’s skin can become soft, fragile, elastic and prone to bruising or scarring. EDS can also cause musculoskeletal pain, scoliosis or poor muscle tone. There can also be arterial/intestinal/uterine fragility or rupture (in the rarer forms).
Many people experience chronic pain or fatigue as well. A person with EDS may experience any or all of these symptoms in varying degrees of severity. Many of those suffering with this condition are frustrated by the difficulty of obtaining a diagnosis.
Several charities aim to raise awareness of EDS so that the people who don’t present the most common symptoms can be diagnosed – and consequently begin management – earlier. Support groups exist to offer help and resources. There are also a number of clinical trials being conducted to further research and understanding of the disorder.