Ehlers-Danlos syndromes, or EDS for short, are a collection of connective tissue disorders. This connective tissue is affected throughout the body. Symptoms can range from hypermobility to digestive issues and chronic pain. Each individual is impacted differently, making this a true spectrum disorder. An EDS diagnosis requires a multidisciplinary approach given its genetic nature and the overlap of symptoms with other conditions. Treatment options will vary per person based on their symptoms. For a large majority of hypermobile individuals, physical therapy is a cornerstone as a treatment option. Understanding EDS is crucial not just for those living with the condition, but for healthcare providers and supporters to tailor a compassionate and effective care approach.
**This is not medical advice. Please consult your medical provider for more information.
EDS is a Spectrum
Ehlers-Danlos syndromes are a complex spectrum of 13 heritable connective tissue disorders. Because this is a spectrum disorder, each person with EDS can present differently. Each type of EDS will have its own diagnostic criteria, though some symptoms will be present across all types. These symptoms include hypermobility, skin fragility, and skin elasticity. Hypermobile EDS (hEDS) is the most prevalent form of EDS. In this variation, hypermobility can also be accompanied by other symptoms, including but not limited to GI issues, chronic pain, dysautonomia, and mast cell activation syndrome.
Hypermobility spectrum disorders (HSD) are also connective tissue disorders that are accompanied by hypermobility, instability and pain. Other symptoms include dysautonomia, GI issues, fatigue, and headaches. There is a lot of overlap between HSD and hEDS. Some think they are the same condition while others think they are two separate conditions. More research is needed to fully understand both HSD and hEDS. What we currently know is that there are management strategies for both conditions that can drastically help improve daily function and quality of life.
To learn more about EDS, HSD, and all of the varying types, visit the Ehlers-Danlos Society website.
Identifying the Symptoms of EDS
One of the things you will notice about EDS is the wide array of symptoms between individuals. Because EDS is a spectrum disorder, presentation will vary drastically. It will also depend on the type that you have. The three symptoms that can be seen throughout the range of types are skin elasticity and fragility and hypermobility. Beyond that, you can see a plethora of symptoms. This can include GI issues, mast cell activation, headaches, fatigue, and many others.
There are so many different symptoms that can occur because this syndrome affects the connective tissue throughout the body. And connective tissue is found in just about everything in the body. Not only will you see symptoms vary, but you can also find the severity of these symptoms can vary significantly from person to person. Take two individuals who suffer from joint instability. One may have dislocated their kneecap (patella) once or twice. Another may complain that they have suffered from 30+ dislocations or subluxations throughout their entire body. Even the simplest of tasks, like walking or reaching for objects, can potentially lead to a subluxation or dislocation.
This variability makes both the diagnosis of EDS and the day-to-day management challenging. Despite the complications, understanding these symptoms is the first step in managing EDS effectively. Knowledge empowers those living with EDS. This might be you or someone you know. But knowledge is what will guide you towards the right treatment options. If you are looking for more direction with where to begin, give this quick assessment a try:
The Beighton Score
The Beighton Score can be used as a screening tool and general assessment for joint hypermobility. It is graded on a 9-point scale as follows:
- Base of the right 5th digit (pinky)
- Base of the left 5th digit (pinky)
- Base of the right 1st digit (thumb)
- Base of the left 1st digit (thumb)
- Right elbow
- Left elbow
- Right knee
- Left knee
- Lumbar spine
Running through this screening tool is simple and can be performed very quickly. Start with your hands. Can you pull your pinky back beyond 90 degrees (a right angle)? If so, give yourself one point. Remember to do this on both sides. If you can only do this on one side you get one point. If both, then add two points. Then, move onto the thumb. Can you pull your thumb down and back to the point where it can touch your forearm? Give yourself a point if you can touch you forearm with your thumb.
Next, stand in front of a mirror. Straighten your arms all the way out to the sides with your palms facing the ceiling. Do your elbows hyperextend more than 10 degrees? That is 10 degrees beyond 0 degrees neutral, or perfectly straight. Add a point for each side that extends beyond 10 degrees. Next, stand with your knees locked. Do your knees hyperextend beyond 10 degrees? This is similar to the elbows, just at the knee joint. Add a point for each side that extends beyond 10 degrees. Finally, stand with your legs straight. Without bending your knees, can you bend forward and touch your palms flat to the ground? If you can do this, add one point.
A positive score in an adult before the age of 50 is a score of 5/9 or greater. Remember, this is a generalized tool and does not mean you have hEDS. All it means is that if you have a positive score, there is a likely presence of generalized joint hypermobility. There are also many other joints where hypermobility can be present that the Beighton Score does not test for.
Diagnosis is a Multi-Step Process
When you suspect you might be dealing with Ehlers-Danlos, diagnosis is a multi-step process and can take some time. This often begins with a detailed subjective and physical exam aimed at identifying hallmark features of the condition. It can take a bit of time to get through this initial part due to the complex array of symptoms and different presentations for each person. Yet, because symptoms can widely vary and overlap with other connective tissue disorders, your healthcare provider will likely delve deep into your family history.
There is a genetic component to EDS. Taking extensive family history can be helpful in aiding a diagnosis, though it is not always a requirement. Genetic testing, when indicated, serves to help in confirming the types of EDS you may have. Certain types of EDS are linked to various collagen defects. However, it is important to remember that diagnosing EDS goes beyond a simple test or one assessment from your doctor. It also goes beyond the screening tool known as the Beighton Score.
Nonetheless, if you experience hypermobility, regardless of an EDS diagnosis or not, treatment options are available to help with managing your symptoms.
Management Strategies and Treatments
Achieving a fulfilling life despite the challenges posed by EDS is possible. A highly individualized treatment regimen tailored to cater to the specific symptoms of the disorder will be extremely important.
Physical Therapy
Physical therapy is a great addition when it comes to treatment. PT will enhance joint stability and can help mitigate pain through exercise. Just as treatment options are highly individualized, PT treatment is also highly individualized. Strengthening and stabilizing becomes the foundation for treatment. However, strengthening can look different for everyone. While some individuals might be working on gentle bracing exercises on the table, others might be pushing weight on machines or performing compound movements like squats and lunges. Regardless of what your strengthening program looks like, the ultimate goal is all the same: to strengthen and stabilize hypermobile individuals and ultimately reduce the pain associated with this syndrome.
Pain Management
Pain management can also be a critical component to treatment. Medications, lifestyle adjustments, and sometimes, interventions like nerve blocks can manage chronic pain that often accompanies collagen defects. Pain management can also help complement physical therapy when pain levels are too high to be able to participate much. Pain management does just that—manage the pain. When pain levels come down, physical therapy can then step in because you can tolerate a bit more movement than you usually would. Then, PT helps pain management because strengthening your muscles can help keep chronic pain at bay, limiting the amount of assistance you need from pain management.
While these are not the only forms of treatment for EDS, it is a good starting point for many. The support of multidisciplinary care can streamline the diagnosis of EDS and its subsequent management. It takes multiple care providers due to the nature of EDS and its effect on multiple areas of the body. With proper management, it is possible to live a fulfilling and enjoyable life.
Lifestyle Modification and Adaptations
Living with EDS necessitates a series of lifestyle modifications and adaptations on top of physical therapy and pain management. Again, this will be personalized for navigating the complexity that comes with a connective tissue disorder. Lifestyle adjustments, though seemingly small, can significantly improve EDS symptoms. This might include dietary adjustments to support overall health. A registered dietician can help establish what dietary changes may be beneficial to best support your body and health.
On top of dietary adjustments, working on pacing and energy conservation during activities can help prevent fatigue. Mapping out your day based on your energy levels and knowing how much energy an activity will use can be beneficial. Scheduling activities throughout the day instead of back to back can also be helpful. Knowing when the body needs rest for adequate recovery is also paramount.
Sleep hygiene is important for all. Establishing a solid sleep routine ensures you are providing your body and mind with the rest it needs to recover. Your sleep routine may also incorporate a nighttime routine where you wind down and prepare your body for sleep. This can help calm down the nervous system and relax your mind for a solid 7-9 hours of sleep. Using pillows can help support your joints when you are sleeping if you feel you need it. And ensuring your environment is set up for maximal sleep benefits is important. This includes sleeping in a cool, dark, and quiet space. If your environment does not allow for this, using things like ear plugs and sleep masks for your eyes can help.
Empowering Those with EDS
If you’re living with EDS, embracing the vision of a fulfilling life amidst the challenges of this condition begins with recognizing your own power. It’s about recognizing that, despite all of the symptoms and complications, there exists a wealth of strength within you and around you.
First and foremost, advocating for yourself is key. Your voice is your strongest ally. Whether it’s in seeking out a specialized primary care provider for EDS or navigating the complexities of the multitude of symptoms, your proactive stance can lead you down a path towards symptom management and improve your quality of life. This journey may involve delving into research and participating in support groups – all of which may be uncomfortable at times – but each step takes you a step closer to knowing more, doing more, and living better.
Managing EDS is a multifaceted endeavor. It involves making lifestyle adjustments, understanding how activities might impact you, and harnessing the power of strength training. Through all of this, you learn not just to manage, but how to thrive.
Most importantly, remember that you are not alone. The strength found in community can be incredibly empowering. This can be friends and family around you to connecting with others across state lines that are going through similar things as you. Reach out, connect, share, and know that a network of support and understanding surrounds you, ready to lift you towards a fulfilling life.
TL;DR
Ehlers-Danlos Syndromes are a group of inherited connective tissue disorders, marked by symptoms such as joint hypermobility and skin elasticity. Diagnosis involves a multi-step process. Treatment options will vary based on presentation, but are focused on symptom management and improving quality of life. Understanding EDS is essential for effective care, highlighting the importance of education, support groups, and a multidisciplinary care approach.
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