We all know someone who is a little bit clumsy, gets injured easily, and although otherwise looks healthy is chronically tired and complains of pain. Are they just complaining for the sake of complaining, or is something truly wrong? A possible explanation is that the person has Ehlers-Danlos Syndrome, often referred to as EDS.
What is EDS?
EDS is a subset of genetic disorders that directly or indirectly cause a defect in the way the body produces collagen, which is the most abundant protein in the body. In other words, it is like someone built a house without all of the materials. The house may look normal on the outside but it will not take much for this house to deteriorate.
There are six major types of EDS, and many gene mutations that fall under the classification of EDS. Each type has its own diagnostic criteria, although all types have symptoms involving the skin and joints. EDS affects 1 in every 5,000 people. Mild types of EDS have been correlated with athletic success, specifically with gymnasts, swimmers, dancers, and divers. There are a couple of types of EDS that can have potentially life-threatening complications, but fortunately those types are rare, with only 30-60 cases reported worldwide.
What are the signs and symptoms of EDS?
Everything is made of collagen, so it makes sense that EDS can affect many systems in the body. For many of the EDS types joint subluxations and dislocations are common and are usually painful. Because ligaments do not fully support joints, muscles must work harder to provide stability and therefore fatigue much more quickly. Those with EDS can also complain of fatigue beyond what is considered normal for their activity level.
How is EDS diagnosed?
Whenever I talk about EDS, I always use the following quote: “When you hear hoofbeats, think of horses, not zebras.” – Dr. Theodore Woodward. Not all who have joint pain and muscle fatigue have EDS; there is usually a more simple explanation for these symptoms. The simple explanation is the “horse,” and the more complicated (and less likely) explanation is the “zebra.” Because people with EDS likely go through multiple misdiagnoses, they identify themselves as zebras. Their National Foundation’s symbol is a zebra. Your primary care doctor will likely rule out these other causes before EDS is discussed.
EDS is most often diagnosed by a specialist; the most common doctors with expertise on these conditions are rheumatologists, hematologists, and geneticists. Most types of EDS can be confirmed by a genetic test, however the gene responsible for the most common type (hypermobility type) has not yet been identified. Because there is no definitive test for EDS hypermobility type, a doctor will use family history, injury history and the Beighton’s Ligamentous Laxity scale for differential diagnosis.
- Bending forward, palms on the floor with knees straight
- Passive hyperextension of each knee beyond 10 degrees
- Passive hyperextension of each elbow beyond 10 degrees
- Passive extension at the 5th digit (pinky) to 90 degrees
- Passive thumb abduction to touch anterior aspect of forearm
The Beighton’s scale consists of 9 maneuvers, and successful completion of 5/9 for males and 6/9 for females is considered positive. The last four in the list above are performed on the right and left sides, with a possible 2 points for each. Just because one can do all of these maneuvers does not mean that EDS is the true diagnosis.
Adapting to EDS
Many people with EDS can do the things that “normal” people do, albeit sometimes with modification. For example, bracing and other forms of joint support can be helpful with sports and other activities. If fatigue is a problem, energy conservation techniques can be used to help with prolonged periods of activity. If you need advice on these topics, please consult a physiotherapist or physician with experience in dealing with patients with EDS.
Treating pain with EDS
Stretching feels good, but can be bad in the long run. These patients do not need additional mobility; they need stability. A good core stabilization program can significantly improve pain and function. For muscles that do feel stiff and painful, I often recommend self-myofascial release such as foam rolling and IASTM. These do not put additional strain on joints if done correctly.
What is Ehlers-Danlos Syndrome? Ehlers-Danlos Society Website. Available at: http://ehlers-danlos.com/what-is-eds/. Accessed October 1, 2016.
Ehlers-Danlos Syndrome. Genetics Home Reference. U.S. National Library of Medicine Website. Available at: https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics. Accessed October 6, 2016.
Ehlers-Danlos Syndrome. NHS Choices Website. Available at: http://www.nhs.uk/pages/home.aspx. Accessed October 5, 2016.
Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed October 1, 2016.
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