Ehlers-Danlos Syndrome (EDS) is a complex genetic collagen disorder that often remains underdiagnosed, despite being a significant contributor to musculoskeletal pain. In this blog, we delve into the world of EDS and its relationship with joint hypermobility, shedding light on the importance of recognizing and addressing this condition.
The EDS Spectrum
EDS encompasses a range of connective tissue disorders, making its clinical presentation highly variable, even within families. While some individuals with EDS may experience chronic pain, others may not recognize it as abnormal, assuming everyone shares their discomfort. This wide spectrum of symptoms can make diagnosis challenging.
Prevalence and Diagnosis
The prevalence of EDS varies significantly across populations and ethnic groups, with estimates ranging from 1 in 5000 to 1 in 10,000 individuals.
Diagnosis often relies on the Beighton criteria, which assess joint hypermobility by examining nine specific items. A score of 5 or more is typically considered diagnostic, although some researchers use different thresholds. However, it's important to note that the Beighton criteria primarily focus on large joints, leaving small- to medium-sized joints largely unassessed. Additional physical findings, such as skin hyperelasticity, are often necessary to confirm the diagnosis.
Musculoskeletal Pain in EDS
Musculoskeletal pain is a common complaint among individuals with EDS. The McGill Pain questionnaire identified pain in 90% of 273 confirmed EDS subjects. This pain can be attributed to hypermobility-related issues but may also result from associated neurological conditions, including tethered cord syndrome, spinal cord compression, and posterior fossa abnormalities.
Management
It’s important for people with EDS to recognize that there are certain limitations they need to respect.
The most important issues is joint hyper-mobility.
For some, this may give them a feeling of freedom when moving their bodies and this advantage may draw them towards certain types of exercise such as yoga, dance and gymnastics where this excessive flexibility is seen as an advantage.
But as they get older and keep pushing their bodies to end of range positions, they are at a higher risk of causing damage to joints, tendons and ligaments.
Joints that are particularly vulnerable would be the lower back, SIJ, shoulder, neck, knees, hips and ankles.
People with EDS would benefit from a Physiotherapy evaluation that helped them to design a personalised home exercise program with an emphasis on joint stability with gentle exercises.
The DNS approach (Dynamic Neuromuscular Stabilization) would be highly beneficial for people with EDS as it targets the deep stabilizing system in a systematic, progressive and gentle way - emphasizing a holistic approach rather than just targeting isolated muscles in the way that many core exercises do. At Kinfolk, Dan has trained in the DNS approach and incorporates the principles when setting up personalized exercise programs.
Aerobic exercise such as walking is considered a foundation for people with EDS.
Manipulation
Extreme care needs to be taken with cervical (joint) manipulation as excess ligament instability can cause significant side effects. It is recommended to avoid, however gentle massage and dry needling as been shown to have positive short term effects on reducing pain.
Magnesium Supplementation and Muscle Relaxation
One intriguing avenue of research in EDS management is magnesium supplementation. Some studies suggest that magnesium supplementation may help prevent muscle damage and potentially alleviate muscle-related pain. However, higher doses of magnesium can act as a laxative, which poses challenges in achieving adequate levels through clinical practice.
The Importance of Recognition
Recognizing EDS and its associated joint hypermobility is crucial for healthcare professionals. Joint hypermobility can be a source of musculoskeletal pain and dysfunction. Moreover, EDS may be linked to various neurological conditions, making early diagnosis and intervention essential for improving patients' quality of life.
In conclusion, Ehlers-Danlos Syndrome and joint hypermobility are significant contributors to musculoskeletal pain that deserve more attention within the medical community. With a better understanding of the condition's prevalence and diagnostic criteria, healthcare professionals can offer improved care and support to individuals living with EDS, helping them lead healthier, more comfortable lives.