The Fight for Recognition: EDS and Mental Health

Authored By: Castine Hardesty

In the widely-acclaimed TV series “Grey’s Anatomy,” there are two episodes dedicated to Ehlers-Danlos Syndrome. Additionally, In “Spider-Man: Across the Spider-Verse,” the character Sun-Spider uses a wheelchair to function with her symptoms brought on by Ehlers-Danlos Syndrome [1]. This rare disease, characterized by an inherited lack of functional collagen affecting joints, skin, and the vascular system, is slowly infiltrating pop culture and media in impactful ways. Unfortunately, despite new discoveries in genetic markers and heightened public awareness about the disorder, EDS, more commonly than not, goes undiagnosed or misdiagnosed for decades after patients first notice symptoms [2]. The reason for these widespread misdiagnoses of EDS lies in the fact that the disease itself is incredibly broad and varies between individuals. Ehlers-Danlos is actually divided into 13 different subsets, many of which have completely different symptoms [3]. The numerous types make it challenging for doctors who aren’t deeply familiar with the diverse symptoms of EDS to properly diagnose an individual. While proper diagnoses are undeniably crucial in aiding a doctor’s ability to treat their patient, the average EDS patient must often wait years for this to happen [4]. Delays in diagnosis then perpetuates further-reaching psychiatric consequences as patients wait for medical answers, causing long-lasting negative effects on their everyday lives.

Although relatively new in the eyes of the media, Ehlers-Danlos Syndrome has been around for a long time. The first-ever recorded mention of EDS came from Hippocrates in 400 BCE. However, it was not recognized as its own disorder until the early 1900s, when dermatologist Edvard Lauritz Ehlers and physician Henri-Alexandre Danlos identified patients with this disorder. In the late 1960s, EDS classification began, in which the initial nine EDS subtypes were defined. It was not until 1972 that a paper was published with the first findings of genetic mutations associated with EDS [5]. According to the Ehlers-Danlos Society, there are 13 defined EDS subtypes today, with symptoms ranging from stretchy and velvety skin to aneurysms and organ rupture [3]. This wide expanse of subtypes and symptoms makes it extremely challenging for individuals experiencing symptoms to receive a correct diagnosis. In a piece written by the mother of a child with EDS for CNN, student Ellie Pattison shared her own story of misdiagnosis. She suffered from major digestive issues due to hypermobile EDS, the most common subtype, yet was diagnosed with an eating disorder for years [6]. This, unfortunately, is not an uncommon occurrence. Many doctors in the past have been quick to jump to conclusions regarding the origins of symptoms, which can be at least in part attributed to the fact that EDS is historically not a well-known disorder [4]. In fact, 56% of patients received a misdiagnosis before discovering that they had EDS [2]. One of the first steps in abolishing misdiagnoses and reducing the years it takes to receive a proper diagnosis is raising public awareness about the disorder.

These struggles to find diagnostic answers in debilitating symptoms comes at a great mental cost to patients. Compared to the overall population, individuals with EDS are more likely to suffer from a mood disorder. In fact, a shocking 43% of misdiagnosed or previously undiagnosed EDS patients experience secondary psychiatric symptoms including anxiety disorders, depression, and eating disorders [7]. In previously misdiagnosed EDS patients, 25% suffer from anxiety and 26% suffer from depression [7], which is wildly higher than the 5% of adults worldwide diagnosed with depression [8]. These staggering statistics do not come as a surprise once we consider that  it takes an average of up to 28 years for an individual with EDS to receive a formal diagnosis [2]. This time is characterized by anxiety, as they deal with symptoms and an undiagnosed disease that they do not understand. In order to decrease the number of EDS patients with psychiatric conditions, it is imperative that doctors become well-informed on the symptoms this disorder presents.

Despite all this, there is hope. EDS is not only beginning to be portrayed in movies and TV shows, but celebrities such as singer Sia and drag queen Yvie Oddly have come forward about the impact EDS has had on their lives [9]. Additionally, blood biomarkers in hypermobile EDS and Hypermobility Spectrum Disorder patients were recently discovered, which, in the future, could lead to simple blood tests to achieve a diagnosis [10]. Using genetics to diagnose is currently possible in every subtype of EDS except for hypermobile EDS, making this a huge advance towards determining the genetic mutation that causes this EDS subtype [3]. With more and more public awareness about Ehlers-Danlos Syndrome and the development of new diagnostic measures, we are slowly working towards a world in which no one will experience the confusing process of misdiagnoses and the psychiatric consequences that follow.

Works Cited

1. Harris, D. (2024, March). Ehlers-Danlos Syndrome in Movies and TV Shows. EDS.clinic. https://www.eds.clinic/articles/ehlers-danlos-syndrome-in-movies-on-tv.

2. Song, B., Yeh, P., & Harrell, J. (2020). Systemic manifestations of Ehlers-Danlos syndrome. Baylor University Medical Center Proceedings, 34(1), 49–53. https://doi.org/10.1080/08998280.2020.1805714.

3. ‌The Ehlers-Danlos Society. (2017). What are the Ehlers-Danlos Syndromes? The Ehlers Danlos Society. https://www.ehlers-danlos.com/what-is-eds/

4. ‌Yahya, A. S., & Khawaja, S. (2020). Psychiatric Disorder in Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome–Hypermobility Type. The Primary Care Companion for CNS Disorders, 22(6). https://doi.org/10.4088/pcc.20nr02644

5. ‌Parapia, L. A., & Jackson, C. (2008). Ehlers-Danlos syndrome – a historical review. British Journal of Haematology, 141(1), 32–35. https://doi.org/10.1111/j.1365-2141.2008.06994.x

6. ‌Lazarus, S. (2022, December 24). Millions have the same “bendy body” disease as my daughter. Why isn’t the medical profession paying more attention? CNN. https://www.cnn.com/2022/12/24/health/hypermobile-ehlers-danlos-syndrome-health-hnk-spc-dst-intl/index.html

7. ‌The Impact on Mental Health: Living with EDS/HSD | Mayo Clinic Connect. (2024). Mayo Clinic Connect. https://connect.mayoclinic.org/blog/ehlers-danlos-syndrome/newsfeed-post/the-impact-on-mental-health-living-with-edshsd/

8. ‌Santilli, M. (2023, July 5). Depression Statistics In 2023. Forbes Health. https://www.forbes.com/health/mind/depression-statistics/

9. ‌Harris, D. The EDS Clinic - Celebrities with Ehlers Danlos Syndrome (EDS) and Hypermobility. (2023, December). EDS.clinic. https://www.eds.clinic/articles/famous-celebrities-with-hypermobility-and-ehlers-danlos-syndrome-eds

10. ‌Ritelli, M., Chiarelli, N., Cinquina, V., Bertini, V., Piantoni, S., Alessia Caproli, Silvia Ebe Lucia Della Pinna, Franceschini, F., Guido Zarattini, Gandy, W., Venturini, M., Zoppi, N., & Colombi, M. (2024). Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.63857