EDS (Ehlers-Danlos Syndrome) is a group of inherited connective tissue disorders that can affect the joints, skin, and blood vessel walls. This condition affects an estimated 1 in 5,000 people worldwide. In this blog post, we will discuss the most common form, hypermobile EDS. Its prevalence, causes, diagnosis, and management. I hope this post will help you to gain a better understanding of this disorder and the impact it can have on people’s lives.
What is EDS?
Ehlers-Danlos Syndrome is a group of 13 genetic conditions that affect the connective tissues in the body. Connective tissues are responsible for providing structure and support to the body’s organs, bones, and other tissues. They also help to maintain the strength and elasticity of the skin, blood vessels, and other body structures. In individuals with EDS, there is a defect in the body’s ability to produce collagen, a protein that is essential for the development and maintenance of connective tissues.
The condition can affect several connective tissues in the body, including cartilage, bones, blood vessels, and fat. As a result, people with EDS may experience a range of symptoms, including joint pain and hypermobility, and fragile skin that bruises easily and is prone to scarring. In some rarer cases, it can also affect blood vessels, leading to potentially life-threatening complications such as ruptures or tears.
The various forms have different symptoms and can be challenging to diagnose. It is estimated that 1 in 5,000 people have some form, with Hypermobile EDS (hEDS) being the most common.
Symptoms of EDS
The list of symptoms really is long and extensive. If you suspect you have a form of EDS, it is important to be working with a medical team that is well-versed with EDS. Here are some things to look out for.
1. Joint Hypermobility: The hallmark feature of hEDS is joint hypermobility, where joints can move beyond the normal range of motion. This can lead to joint pain, instability, and an increased risk of dislocations and subluxations.
2. Skin and Tissue Fragility: People with hEDS often have fragile and stretchy skin that is prone to easy bruising, scarring, and slow wound healing. They may also have soft, velvety skin and be more susceptible to developing stretch marks.
3. Chronic Pain and Fatigue: Many individuals with hEDS experience chronic pain. Which can be widespread and affect multiple joints and body areas. Fatigue is also common and can be debilitating.
4. Associated Symptoms: gastrointestinal issues (such as irritable bowel syndrome), autonomic dysfunction (such as postural orthostatic tachycardia syndrome), and problems with the cardiovascular system, such as mitral valve prolapse.
What is hypermobility?
When a joint is hypermobile, it means that it has a greater range of motion compared to what is considered normal or typical for that joint. In other words, the joint can move beyond the expected range of motion, often allowing for increased flexibility and movement. Please remember, there is a range of normal and variations amongst individuals.
Hypermobile joints are often described as being “loose” or “double-jointed.” This increased mobility can be observed in various joints throughout the body, such as the fingers, wrists, elbows, shoulders, hips, knees, and ankles.
It’s important to note that hypermobility can have both advantages and disadvantages. On one hand, it can allow for increased flexibility and certain physical abilities. It’s great for working for Cirque du Soleil! On the other hand, it can also lead to joint instability, increased risk of dislocations or subluxations, and potential joint pain or injury.
Diagnosis of EDS
The current diagnostic criteria for hypermobile Ehlers-Danlos Syndrome (hEDS) are outlined in the 2017 International Classification of Ehlers-Danlos Syndromes. These criteria include the following:
1. Generalized Joint Hypermobility: The presence of generalized joint hypermobility is a key feature of hEDS. This is typically assessed using the Beighton Score, which evaluates joint hypermobility in nine specific areas of the body.
2. Systemic Manifestations: In addition to joint hypermobility, individuals with hEDS may exhibit various systemic manifestations, such as skin involvement (e.g., soft, velvety skin, easy bruising), chronic pain, and musculoskeletal complications (e.g., joint instability, recurrent dislocations/subluxations).
3. Exclusion of Other Connective Tissue Disorders: To diagnose hEDS, other heritable connective tissue disorders, such as classical EDS or vascular EDS, should be excluded through clinical evaluation and, if necessary, genetic testing.
4. Family History: A family history of similar features consistent with hEDS may support the diagnosis, although it is not required for diagnosis.
It’s important to note that the diagnosis of hEDS is clinical and based on the evaluation of symptoms and physical findings. Genetic testing is not typically used for diagnosing hEDS, as it is not caused by a single gene mutation.
If you suspect you may have hEDS, it is recommended to consult with a healthcare professional. Like a rheumatologist or geneticist, who specializes in connective tissue disorders. They can evaluate your symptoms, perform a physical examination, and determine if you meet the diagnostic criteria for hEDS.
Causes of EDS
Experts have identified more than 20 different genetic mutations that can cause Ehlers-Danlos syndrome. They all affect your body’s ability to produce collagen. Which specific mutation you have determines which parts of your body are affected.
Genetic mutations are changes to your DNA sequence that happen during cell division when your cells make copies of themselves. If part of your DNA sequence is in the wrong place, isn’t complete or is damaged, you might experience symptoms of a genetic condition.
Even though we know it’s caused by a genetic mutation, healthcare providers can’t always identify the exact mutation that causes Ehlers-Danlos syndrome in someone.
Management of EDS
It’s important to remember, EDS isn’t something you catch. It’s a genetic condition. managing symptoms and improving quality of life. This may involve a multidisciplinary approach, including physical therapy, pain management, assistive devices, and lifestyle modifications. Regular exercise, including strengthening exercises, can help stabilize joints and improve muscle strength.
Hypermobility is a range, not everyone’s symptoms are the same. It’s important to test and understand what your real limitations are. Just because someone else can or can’t do something doesn’t mean that applies to you. When your connective tissues are stretchy and allow bones to move past their normal range, strong muscle is the best counter for that.
Needing to modify lifting or other exercises is not hard in today’s world, it’s all about finding the right people to help you adapt what you want to do.
Emotional and Mental Health
Living with any chronic condition can have a significant impact on emotional and mental well-being. HEDS is no different. Coping with chronic pain, fatigue, and the challenges of managing a chronic condition can lead to anxiety, depression, and other mental health concerns. The information contained within this website can help you to manage these aspects of your life.
Our nervous systems still matter in the way we experience pain from our tissue issues. Caring for our mental health is just as important as our physical health. Building resilience is an important piece to your well-being and living as you and not just as your diagnosis.
