Furnace Brook PT has seen a rise in the last 2-3 years of patients being referred for Ehlers-Danlos Syndrome (EDS). Our clinicians are not sure if it is being more accurately diagnosed, or if there are, in fact, more young patients with it. We thought our blog might be a good way of educating our readers on the condition.
EDS is a connective tissue disorder within the spectrum of Hypermobility Disorders. It is an inherited disorder which presents itself in approximately 1 out of every 2500 people. Typically, speaking in a general sense, it is diagnosed by the presence of a cluster of factors; joint hypermobility, skin hyperextensibility, and tissue fragility. I say typically because while there is certainly a prevalent presentation of Ehlers-Danlos Syndrome, there are 13 different subtypes currently identified with varying symptoms among them.
Connective tissue is found throughout our body. It is the primary foundation from which muscle and ligaments are created, and is also found in skin, blood vessels, gums, organs, eyes, and more. Connective tissue contains special proteins which have the capability of generating both stiffness and elasticity, depending on what is needed in that moment. These tissues are capable of being stretched to a certain limit, withstanding stresses and torques, and then returning to a normal resting state shortly thereafter.
People suffering from Ehlers-Danlos lack this capability. Their proteins are of a different, genetically altered nature and behave / respond differently to different stretches. Speaking broadly, their connective tissue does not have the ability to withstand significant stresses and can become stretched beyond normal bodily limits, causing injury and damage. Often, this leads to frequent joint dislocations or subluxations, early onset of osteoarthritis, poor muscle tone (resting tension and definition), and soft, fragile skin resulting in poor wound healing, easy bruising, and problems with scarring.
Usually, a known family history will exist and factor into the decision. The disease is also far more prominently found in females, and generally problems begin to present themselves as the patient hits puberty. Any physician is qualified to make the formal diagnosis, however, most will refer to a geneticist, as they are best equipped to distinguish between this disease, and others like it. However, if just the above cluster of symptoms is present, a physical examination can be all that’s required to make the diagnosis of Ehlers-Danlos. This may include use of the Beighton Scale to assess for hypermobility, assessment of the skin, looking particularly for abnormal scarring and how much it stretches for, and a thorough past medical history. Finally, distinct gait and postural mal-adaptations may be demonstrated. Posturally, patients will present with excessive lordosis, femoral internal rotation, tibial internal rotation, excessive ankle pronation, and flat feet. In gait, clinicians will frequently observe asymmetrical arm swing, shortened strides, excessive time spent in stance, and a Trendelenburg pattern.
Treatment (From a Physical Therapy Perspective)
Common physical therapy approaches involve 4 main aspects: patient education, pain management, strengthening, and stabilization. In some cases brace and orthotic fitting may also come into play. Regarding patient education, it is important to quickly identify activities and positions that put this patient type at further risk for injury and joint damage. Sports such as ballet, dance, gymnastics, and cheerleading, among others, likely aren’t their best bet for long-term health, due to the end-range stresses each require. Stretching should likely be eliminated from any of their exercise programs to prevent further abnormal tissue elongation. Regarding strengthening and stabilization programs, long lever arms should be avoided, and optimally patients should mostly exercise within their mid-ranges of motion to promote safety and joint congruency. A fantastic option for patients with this syndrome is aquatic therapy, a modality that we are proud to offer on site here at FBPT. The water buoyancy minimizes joint compression and forces, while they are forced to stabilize in a three dimensional manner against the resistance of the water.