Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that result from defects in the production or processing of collagen, an essential protein that provides structure, elasticity, and strength to the body’s connective tissues. Collagen is the main structural protein in the skin, ligaments, tendons, blood vessels, and organs. In healthy individuals, collagen fibres are strong and flexible, allowing tissues to maintain integrity and resilience. However, in those with EDS, defects in collagen cause weakened connective tissues, which leads to a variety of symptoms affecting multiple body systems.
The primary cause of Ehlers-Danlos Syndrome is a genetic mutation that leads to an abnormality in collagen, the protein that helps maintain the strength and elasticity of connective tissues. Collagen defects can result from mutations in different genes depending on the subtype of EDS. These mutations either impair the production of collagen or alter the structure of the collagen produced, causing it to be weaker, more elastic, or improperly formed. There are several types of EDS, with each linked to different genetic mutations.
The defective collagen leads to a range of structural issues in connective tissues. The skin, joints, and blood vessels become more elastic than normal, which sounds beneficial but ultimately leads to fragility and instability. This hyper-elasticity allows tissues to stretch beyond normal limits, but they lack the resilience to return to their proper structure, making them prone to injury, dislocation, and rupture. In joints, hypermobility and instability are common, leading to frequent dislocations, sprains, and joint pain. Similarly, the skin becomes prone to bruising, tearing, and slow wound healing.
Signs and symptoms of Ehlers-Danlos Syndrome include hypermobility of the joints, fragile skin, and a tendency for tissues to stretch excessively. Individuals with EDS often experience frequent joint dislocations, subluxations, and sprains with minimal or no trauma. This is due to the weakened connective tissues that support the joints. The skin in people with EDS is often soft, smooth, and hyper-elastic, allowing it to stretch more than usual and easily bruise or tear. In addition to these skin and joint manifestations, individuals may also develop abnormal scarring, which may appear thin, stretched, or wide compared to typical scars.
Other common symptoms include chronic pain, especially in the joints and muscles, as well as fatigue, which can be exacerbated by ongoing joint instability and pain. Those with EDS may also experience gastrointestinal issues, such as bloating, constipation, and irritable bowel syndrome, and some may develop early-onset osteoarthritis due to the constant strain on their joints.
Ehlers-Danlos Syndrome can be mistaken for other connective tissue disorders. For example, Marfan syndrome shares some features with EDS, such as joint hypermobility and tall stature, but it also presents with other cardiovascular problems, which are not characteristic of EDS. Another condition that may be confused with EDS is hypermobility spectrum disorder (HSD), which involves joint hypermobility but does not typically present with the skin or vascular issues characteristic of EDS.
Exercise therapy plays a crucial role in the management of Ehlers-Danlos Syndrome. While there is no cure for EDS, physical therapy and exercise can help individuals manage the symptoms, improve their functional capacity, and reduce the risk of injury. The primary goal of exercise in EDS is to strengthen the muscles around the hypermobile joints, providing them with better support and stability. By improving muscle strength, individuals can reduce the likelihood of joint dislocations, subluxations, and other musculoskeletal injuries. Targeted exercises that focus on building strength and improving joint stability are particularly beneficial for the larger joints, such as the knees, hips, and shoulders.
Exercise therapy can also help improve proprioception, the body’s ability to sense the position of its joints in space. For people with EDS, enhancing proprioception through specific exercises can reduce the risk of joint injuries during daily activities by improving awareness of joint positioning. Additionally, strengthening the muscles around hypermobile joints can alleviate pain, improve mobility, and reduce the impact of joint instability. Low-impact aerobic activities like swimming or cycling are often recommended, as these exercises can improve cardiovascular health without placing excessive stress on the joints.
Flexibility exercises, while important for maintaining joint range of motion, need to be carefully balanced with strengthening exercises to avoid overstretching already hyper-elastic tissues. In addition, individuals with EDS should work with a physiotherapist to ensure that they are performing exercises safely, with correct technique, and at an appropriate intensity to avoid exacerbating symptoms. Overall, regular exercise can enhance muscle tone, improve joint function, increase overall strength and stability, and improve the quality of life for individuals with EDS.
Are you an EDS individual? Are you looking to be best cared for by a team that truly understands your condition? Reach out to an OHL Physiotherapist today, via 9431 5955 and/or you can book online via the Client Portal. We cannot wait to welcome you into our clinic, which is a safe and understanding space for invisible illnesses.