Internal Medicine Doctor Explains Ehlers-Danlos Syndrome

Added: 2026-05-23

[00:00:00]I celebrated my birthday and my 4-year Vtubing anniversary on stream last week.

[00:00:04]During my birthday subathon, Twitch user Abby Corp sent some gifted subs and hit the goal to pick my next video lecture topic. Yeah, I can I can go on and on about EDS. I enjoy talking about it. I will I will make a video on EDS. And I had to play roll for soda and make a very cursed drink and that was disgusting. Guava syrup, Irish cream, mixed berry puree, white monster, and frozen mango.

[00:00:32]Oh.

[00:00:34]Oh.

[00:00:36]Anyway, let's talk about Ehlers-Danlos syndrome, aka 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. Various genes can be affected like the type 5 collagen mutation in COL5A1 or 2 leading to classical EDS or the type 3 procollagen mutation in COL3A1 leading to vascular EDS. There are currently 13 identified subtypes of EDS, but all share some degree of joint laxity and skin or soft tissue manifestations.

[00:01:15]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 or 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. The Beighton score is a tool used to assess joint hypermobility. It's a nine-point yes or no checklist that grades a patient's ability to perform four bilateral motions and one unilateral motion to demonstrate hypermobility. The Beighton criteria include hyperextension and dorsiflexion of the right and left fifth fingers beyond 90°, opposition of the right and left thumbs to the flexor surface of the forearms, hyperextension of the right and left elbows beyond 190°, hyperextension of the right and left knees beyond 190°, and forward flexion of the trunk with the knees fully [music] extended so that the palms of the hands rest flat on the floor. A score of six out of nine is positive for children before puberty, five out of nine is positive for puberty up to the age of 50, and four out of nine is positive for anyone older than 50. And remember, hypermobility may have a prevalence as high as 30% in the general population. Positive scores do not necessarily correlate with an EDS diagnosis. [music] But if you find yourself able to do most or all of these, consider talking to your doctor about your hypermobility, associated symptoms, and possibly pursuing a diagnosis. Psy can lower time. So, back in med school, my research mentor was a sports medicine doctor, and a lot of my research was done through our fancy D1 school sports medicine center in treating a young adult athlete population with EDS. Since in reality, many hypermobile EDS patients are actually unaware of their diagnosis until they develop joint problems later in life. As an athlete, hypermobility can seem like a blessing in the sports world, and you see many EDS patients practically self-select themselves into the competitive world of high school and university athletics.

[00:03:17]Imagine how the extra extensibility can help you take a bigger 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 30s and start to think, "Hey, is there a reason all of this is happening now?" Loose joints over decades can lead to early fibrosis or 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 control and even opioid therapies to control their symptoms. Unfortunately, the collagen defects leading to the hypermobility phase usually progress to a pain [music] 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.

[00:04:28]Or like above, patients may be diagnosed with 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 patient symptoms 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 Novocain used in dental procedures and actually do much better with bupivacaine instead.

[00:05:12]Ultimately, patients really benefit from seeking providers who are knowledgeable about EDS and other myofascial disorders or pain syndromes who can work with their patient's specific conditions the best. Also, part of my subathon rewards for the top two gifters was a special shoutout on my next video. So, special shoutout to my long-time cover partner, Katsun, and my fellow internal medicine doctor, JFMD.