TEPPY 🦇 🍩

Let's talk about Ehlers-Danlos Syndrome (EDS)!🗒️ EDS is an umbrella term for a group of connective tissue disorders that affect collagen synthesis, and therefore can involve a wide variety of organ systems from your skin to your bones, including your joints, blood vessels, tendons, and ligaments. There are various genes that can be affected, like the type V collagen mutation in COL5A1/2 leading to classical EDS, or the type III procollagen mutation in COL3A1 leading to vascular EDS. Overall, hypermobile Ehlers-Danlos syndrome (hEDS) is the most common, and represents about 80 to 90% of all EDS cases. One of the most recognizable skin/soft tissue manifestations is joint laxity, which almost all of the subtypes exhibit. EDS is a clinical diagnosis, and hypermobility is commonly evaluated in the office by the Beighton score (pic below). Back in med school, a lot of my research was done through our sports medicine center in treating a young adult athlete population with EDS, since many are actually unaware of their diagnosis until they develop joint problems later in life! As an athlete, the hypermobility can seem like a blessing in the sports world, since the extra extensibility can help you take a biggest swim stroke, snap your arms for a faster baseball pitch, or give you a huge boost in gymnastics work. But over time, patients begin to experience the negative consequences of joint hypermobility; or they develop other comorbidities common to EDS such as POTS or TMJ, and then these patients come together in their 30's and start to think "hey is there a reason all of this is happening now???" Loose joints over decades can lead to early fibrosis/arthritis, osteoarthritis, and chronic joint and limb pain. Studies have shown that many patients with hEDS over the age of 20 report struggling with some kind of chronic pain, with a majority of them reporting it as a progressive problem. Many require some form of prescribed pain controland even opioid therapies, to control their symptoms. Unfortunately, the collagen defects leading to the Hypermobility phase usually progress to a Pain phase, and a Stiffness phase. Besides the physical joint instability, the broader medical complications of these developments include heart valve problems, rectal tearing, and life-threatening emergencies like arterial dissection or uterine rupture. Or like above, patients may be diagnosed their POTS or TMJ symptoms first before uncovering their underlying EDS problem! There is no curative therapy to this genetic disease, but there are many therapies available for patients, ranging from hydrofascial release to novel prolotherapy. But it's important that doctors listen to their patients and get a full evaluation before sending them off to procedures! Some patients benefit from skipping the injections entirely, and do well with the proper physical therapy for hypotonia and hypermobility. Or maybe just even wearing compression garments! It's just as important to be knowledgeable about the alternatives too: for example, many EDS patients respond poorly to novocaine used in dental procedures, and actually do better with bupivacaine instead! Ultimately, patients really benefit from seeking providers who are knowledgeable about EDS and other myofascial disorders/pain syndromes who can work with their patients' specific conditions the best.