What is Ehlers-Danlos Syndrome?

Hypermobility

Ehler’s-Danlos Syndrome is a genetic connective tissue disorder that affects the development and function of collagen (Francomano, 2023). Fourteen different variants of EDS and six different categories exist; within those variants, some forms more fatal than others (Francomano, 2023). Having EDS affects you physically, socially, and psychologically (Demmler et al., 2019; Francomano, 2023; Golics et al., 2013; Van Wilder et al., 2021). Ehlers-Danlos is a syndrome that effects between 1 in 5,000 and 1 in 100,000 depending on the subtype. The most common subtype is hypermobile type EDS (hEDS), which effects between 1 in 10,000 and 1 in 15,000 (Brady et al., 2017; Miklovic & Sieg, 2023; Pyeritz, 2000). According to another study, it is estimated that the prevalence is 1 in 3,100 and it is predicted that to potentially be more people since the diagnosis process is not easily accessible (Demmler et al., 2019). Ferman & Hamm (2016) surveyed over 2000 people with EDS and found that 54% of those participants with EDS waited more than 10 years to get the correct diagnosis.

It is estimated about 70% of people with EDS are assigned female at birth (Demmler et al., 2019). They also found about 70% of participants claimed that their doctor said their symptoms were “all in their head” and a staggering 97% of participants were labeled by their doctors as having psychological conditions causing their symptoms rather than physical (Demmler et al., 2019). Francomano (2023) says many of the rare types of EDS can be diagnosed through genetic testing, which is not always covered by insurance and is not typically suggested in the beginning of the diagnosing process; diagnosing is usually a process of elimination. Francomano (2023) also states, the most common type, hEDS, does not have a genetic marker, making hEDS even more difficult to diagnose. One quote from medicine is, “If you hear hoofbeats, think horses, not zebras” (Sotos & Woodward, 2000). The nickname ‘zebras’ came from Sotos and Woodwards quote since EDS is the least likely diagnosis when assessing.

Statistics and research illustrate the need for a platform where individuals can speak their truths within a research-based context. More specifically, statistics and research illustrate the importance of hearing the female experience from a research-based space as they make up majority of the population and have a history of not being heard or taken seriously (Chen et al., 2008; Demmler et al., 2019; Hogue & Book, 2018; Lippi et al., 2020; Nabel, 2000; Slawson, 2019)

Jorden, A. (2024). Capturing Women’s Biopsychosocial Experience of Living With Ehlers-Danlos Syndrome Through Photography (dissertation). ProQuest. Retrieved from https://www.proquest.com/docview/3201334426/580943EFDD44F80PQ/1?sourcetype=Dissertations%20&%20Theses.

---

Resources:

Brady, A., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M., Rohrbach, M., Van Damme, T., Vandersteen, A., van Mourik, C., Voermans, N., Zschocke, J., & Malfait, F. (2017). The Ehlers–Danlos syndromes, rare types. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 70–115. https://doi.org/10.1002/ajmg.c.31550

Chen, E., Shofer, F., Dean, A., Hollander, J., Baxt, W., Robey, J., Sease, K., & Mills, A. (2008). Gender disparity in analgesic treatment of emergency department patients with acute abdominal pain. Academic Emergency Medicine, 15(5), 414–418. https://doi.org/10.1111/j.1553-2712.2008.00100.x

Demmler, J., Atkinson, M., Reinhold, E., Choy, E., Lyons, R., & Brophy, S. (2019). Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: A National Electronic Cohort Study and case–control comparison. BMJ Open, 9(11). https://doi.org/10.1136/bmjopen-2019-031365

Ferman, J., & Hamm, D. (2016). EDS worldwide survey summary. Retrieved from http://www.chronicpainpartners.com/free-webinarresults-of-the-eds-awareness-international-survey/

Francomano, C. (2023). EDS ECHO Clinicians North America (CLN13A-DPM). In The Ehlers-Danlos Society. Retrieved 2023, from https://www.ehlers-danlos.com/resource/eds-echo-clinicians-north-america-cln13a-dpm-session-1/.

Golics, C., Basra, M., Salek, M., & Finlay, A. (2013). The impact of patients’ chronic disease on family quality of life: An experience from 26 specialties. International Journal of General Medicine, (6), 787–798. https://doi.org/10.2147/ijgm.s45156

Hogue, C., & Book, W. (2018). Women deserve better health care. Annals of Internal Medicine, 168(12), 885. https://doi.org/10.7326/m18-1258

Lippi, D., Bianucci, R., & Donell, S. (2020). Gender medicine: Its historical roots. Postgraduate Medical Journal, 96(1138), 480–486. https://doi.org/10.1136/postgradmedj-2019-137452

Miklovic T, Sieg VC. Ehlers-Danlos Syndrome. [Updated 2023 May 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/

Nabel, E. (2000). Coronary heart disease in women — an ounce of prevention. New England Journal of Medicine, 343(8), 572–574. https://doi.org/10.1056/nejm200008243430809

Pyeritz, R. (2000). Ehlers–Danlos syndrome. New England Journal of Medicine, 342(10), 730–732. https://doi.org/10.1056/nejm200003093421009

Slawson, N. (2019, December 18). “Women have been woefully neglected”: Does medical science have a gender problem? The Guardian. https://www.theguardian.com/education/2019/dec/18/women-have-been-woefully-neglected-does-medical-science-have-a-gender-problem

Sotos, J. & Woodward, T. (2000). Who Coined the Aphorism? Zebra Cards. other. Retrieved November 6, 2023.

Van Wilder, L., Pype, P., Mertens, F., Rammant, E., Clays, E., Devleesschauwer, B., Boeckxstaens, P., & De Smedt, D. (2021). Living with a chronic disease: Insights from patients with a low socioeconomic status. BMC Family Practice, 22(1). https://doi.org/10.1186/s12875-021-01578-7