The Basics of Hypermobility
What is a connective tissue disorder?
Introduction
Have you heard of hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD)? These two disorders affect how the body builds connective tissue leading to weak and overly stretchy support for most of the body's systems. This fragile structure causes debilitating symptoms that can severely affect a patient's quality of life. Although they are relatively common, they are not widely understood, and it is essential to talk about these conditions to gain more awareness, diagnosis, and support for patients who suffer from them.
This blog post aims to provide a basic overview of the two most common connective tissue doesorders: hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, their symptoms, diagnosis, treatment, and how they affect patients in their daily lives.
Ehlers-Danlos Syndrome
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a genetic disorder resulting from a gene defect that incorrectly tells the body how to build connective tissue. Connective tissue is present throughout the body and provides structure, support, and elasticity to organs, joints, skin, and blood vessels. Without this vital connective tissue, organs and joints become more flexible and lax, which causes the typical symptoms of EDS. There are thirteen subtypes of EDS, and each subtype has its set of unique criteria and complications.
EDS can affect many body systems, including the cardiovascular, digestive, and nervous systems. People with EDS have hypermobility in their joints, which means the joints can move beyond their normal range of motion. They may also have soft, velvety skin that is stretchy and bruises easily, excessive scarring, slow wound healing, spinal problems, chronic pain, and fatigue. The severity of symptoms varies widely, and some people with EDS may not experience any issues until later in life.
Hypermobility Spectrum Disorder
Hypermobility Spectrum Disorder (HSD) is a milder form of EDS, often called joint hypermobility syndrome. HSD is more common than EDS and is estimated to affect up to 20% of the general population. People with HSD have some of the same symptoms as EDS, such as joint pain, fatigue, and skin issues, but to a lesser extent.
The most significant difference between EDS and HSD is that EDS is caused by a specific genetic mutation, whereas HSD does not have a known genetic cause. However, EDS and HSD are diagnosed using similar criteria, and treatments for both conditions focus on managing symptoms. These treatments may include physical therapy, pain management, joint protection, and, in some cases, surgery.
Living with EDS or HSD
Living with EDS or HSD can be challenging, and patients often have to make significant adjustments to their daily lives to manage their symptoms. Simple activities like walking, sitting, and lifting can be strenuous, and patients may need to use mobility aids to move around. The syndrome can also affect mental health, causing depression, anxiety, and social isolation.
Conclusion
Living with Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder can be complicated, but patients can lead a fulfilling life with the proper diagnosis and management. If you suspect that you or someone you know may have EDS or HSD, speak to your doctor or a genetic counselor to receive a full medical assessment that can lead to a diagnosis and treatment plan that works for you. Raising awareness about these conditions can provide support and understanding for those who suffer from them. Remember, knowledge is power, and with the correct information and support, patients can manage their symptoms and live well with these rare genetic disorders.
