Are you frustrated by the amount of misinformation spreading like wildfire across the internet about Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders? We are too.
This is precisely why Dr. Cortney Gensemer and I teamed up to write this blog post about common myths in honor of EDS and HSD Awareness Month. Cortney Gensemer, PhD, a postdoctoral scholar in the Lab of Chip Norris, PhD at the Medical University of South Carolina (MUSC), is at the forefront of Ehlers-Danlos Syndromes (EDS) research. Cortney’s scientific expertise and own lived experiences are further enhanced by her skills as an advocate and science communicator.
We hope you find this helpful and would love to hear your thoughts in the comments section!
-Linda Bluestein, MD
Living with EDS and HSD: The Daily Struggle and Misconceptions
Picture waking up each morning, your body filled with odd sensations. Today they are pain, blurry vision, ringing in your ears, dizziness, and abdominal pain but tomorrow they will be different. Some of these are new and others are (very) old.
For those living with Ehlers-Danlos Syndrome (EDS) or Hypermobility Spectrum Disorder (HSD), this is often their reality. Every day is a delicate balance between navigating various symptoms with our dysfunctional healthcare (non)system. Although awareness is improving, these conditions remain misunderstood, their true impact obscured by layers of misconceptions. With May just concluding, a month dedicated to raising awareness for EDS and HSD, now is the perfect time to discuss the realities, challenges, and myths that impact the lives of those affected by EDS or HSD.
Dangerous EDS and HSD Myths
Myth #1 - EDS and HSD are Rare.
There are 14 subtypes of EDS and almost all of them are rare. The hypermobile type (hEDS), however, likely comprises 80-90% of cases and is much more prevalent than once thought. Where older studies estimated that all types of EDS together impacted roughly 1 in 5000 people, this number was never validated by any research study. A more recent study estimated that hEDS and HSD combined could impact 10 times this number of people.
Myth #2 - Joint Hypermobility is the Biggest Consequence of EDS and HSD.
Joint hypermobility, a frequent clue to the presence of EDS or HSD, means that joints move beyond their expected range of motion. Joint instability can also occur which means that joints do not stay in proper alignment. Joints anywhere in the body may become dislocated or sublux (a partial dislocation). Other musculoskeletal effects include frequent sprains (injuries to ligaments and capsules) and strains (injuries to tendons and muscles). Joint instability and sprains / strains can greatly impact quality of life but the impacts of EDS and HSD do not end there. Many patients do not consider joint hypermobility to be their biggest health issue.
Myth #3 - Everyone With Joint Hypermobility Has (or Will Develop) Problems.
Joint hypermobility (JHM) is common, and recent research recommends variable cutoffs due to the multitude of contributing factors to joint range of motion (eg: age, sex, and cohort of interest). Other factors include connective tissue strength, shape of the bones, training, and injury or surgery. Some conditions involving joint hypermobility are inherited (genetic) but not all of them are. When someone has signs of a heritable connective tissue disorder (eg: they also have stretchy skin and fragile tissues), it is likely that they will go on to develop other problems.
Some people with JHM are pre-symptomatic (meaning they do not have problems now but will develop them in the future) and others are polysymptomatic (multiple symptoms). Researchers still do not yet fully understand why some people develop symptoms whereas others do not.
Myth #4 - Symptoms and Signs of hEDS are Limited to the Skin and Musculoskeletal System.
Comorbid conditions tend to be the norm with gastrointestinal manifestations, anxiety, migraine, dysautonomia / POTS (Postural Orthostatic Tachycardia Syndrome), depression, Raynaud’s phenomenon, and MCA (Mast Cell Activation) nearing the top of the list in a recent study of 2149 clinically diagnosed patients with hEDS. These were followed by ME / CFS (myalgic encephalomyelitis / chronic fatigue syndrome), CCI / AAI (craniocervical or atlantoaxial instability), bleeding or clotting problems, autism spectrum disorder, Chiari malformation and tethered cord.
HSD and hEDS have a lot of phenotypic overlap (meaning that they have many similar observable characteristics). Patients with phenotypic overlap (like HSD) were not included in this study, however there is evidence that many of these comorbidities occur in this population as well.
Myth #5 - EDS and HSD are “Female Conditions.”
It is unclear why more females than males have been diagnosed with hEDS and HSD but these conditions can affect individuals of any sex or gender. A recent study on those clinically diagnosed with hEDS included 1771 females, 88 males, and 68 nonbinary participants. Researchers found fascinating differences amongst these groups, however it is still unknown why females are more commonly diagnosed. They point out a number of potential explanations. Females may bear a greater disease burden, may be more proactive in seeking a diagnosis, or underlying genetic / biologic factors may influence disease susceptibility, severity or penetrance (the likelihood of a condition occurring when a particular gene is present).
Ways to Get Accurate Information
Debunking myths surrounding EDS and HSD helps provide accurate information, while also validating the lived experiences of those struggling with these conditions every day. hEDS and HSD are more common than previously thought and their impact extends far beyond joint hypermobility. It is time to rewrite the narrative, replacing mistruths with facts, and creating a better system in place for those suffering from complex conditions.
These topics are complex and nuanced so getting accurate information is essential. Beware of those presenting an overly simplistic view. Listen to my free podcast, Bendy Bodies with the Hypermobility MD, for tips on separating facts from fiction which is helpful for achieving better outcomes while saving you time and money.
Click here to learn more about EDS from postdoctoral scholar, Cortney Gensemer, PhD.
Help us spread awareness by sharing this post with your friends and family!
Cortney Gensemer, PhD
Postdoctoral Scholar
Subscribe to Life and Science with Cortney
Linda Bluestein, MD
Founder and Host, Bendy Bodies with the Hypermobility MD Podcast
Hypermobility MD, PLLC (medical services)
Bendy Bodies, LLC (coaching services)
PS. Click here to read Dr Gensemer's guest blog post, "Hype, Hormones, and Hypermobility."
Click here for Dr Lilian Holm's guest blog post, "Hypermobile? Five Principles to Make Physical Therapy Work for You."
Read my blog post, "Finding Better Healthcare with Ehlers-Danlos Syndrome: From a Physician with EDS. "
References
Nicholson LL, Simmonds J, Pacey V, De Wandele I, Rombaut L, Williams CM, Chan C. International Perspectives on Joint Hypermobility: A Synthesis of Current Science to Guide Clinical and Research Directions. J Clin Rheumatol. 2022 Sep 1;28(6):314-320. doi: 10.1097/RHU.0000000000001864. Epub 2022 Jun 3. PMID: 35661088; PMCID: PMC9422750.
Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019 Nov 4;9(11):e031365. doi: 10.1136/bmjopen-2019-031365. PMID: 31685485; PMCID: PMC6858200.
Singh H, McKay M, Baldwin J, et al. Beighton scores and cut-offs across the lifespan: cross-sectional study of an Australian population. Rheumatology. 2017;56:1857–1864.
Chan C, Hopper L, Zhang F, et al. The prevalence of generalized and syndromic hypermobility in elite Australian dancers. Phys Ther Sport. 2018;32:15–21.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090.
Taylor Petrucci, S. Jade Barclay, Cortney Gensemer, Jordan Morningstar, Victoria Daylor, Kathryn Byerly, Erika Bistran, Molly Griggs, James M. Elliott, Teresa Kelechi, Shannon Phillips, Michelle Nichols, Steven Shapiro, Sunil Patel, Nabila Bouatia-Naji, Russell A. Norris. Phenotypic Clusters and Multimorbidity in Hypermobile Ehlers-Danlos Syndrome. Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Volume 8, Issue 3, 2024, Pages 253-262, ISSN 2542-4548. https://doi.org/10.1016/j.mayocpiqo.2024.04.001.
Dr. Cortney Gensemer is a postdoctoral scholar in the Lab of Chip Norris, PhD, at the Medical University of South Carolina (MUSC). She holds a bachelor's degree in pharmaceutical product development from West Chester University (2018) and a PhD in biomedical sciences from MUSC (2022). With a focus on understanding the genetic and molecular mechanisms underlying hypermobile Ehlers-Danlos Syndrome (hEDS) and related comorbid conditions, her research is driven by her firsthand experience as a patient.
Her current research focuses include the genetics of rare and not-so-rare connective tissue disorders and the downstream biology of these conditions. Cortney is also interested in related comorbidities of the Ehlers-Danlos syndromes, such as neurological manifestations and mast cell activation. Most of her work is focused on translational, clinically relevant studies with the goal of going from bedside to bench and back to bedside. Her ultimate career goal is to complete her postdoc and become an academic research professor focused on these conditions.
Beyond her scientific pursuits in the lab, Cortney is actively engaged in science communication and social media outreach. Seamlessly integrating her scientific expertise with her own lived experiences, she aims to bridge the gap between research and the daily realities faced by individuals with EDS. Her multifaceted work as a researcher, advocate, and science communicator aims to pave the way for a more inclusive and supportive landscape for individuals with EDS.
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