Jenny Niedenfuehr, MPH, CHES®, CPH
This is going to be a high level summary of Ehlers-Danlos syndrome (EDS). There are 13 types of Ehlers-Danlos and there are way too many topics to cover in such a resource page like this. For a much more in-depth overview please watch the video links below by Dr. Shweta Dhar, Dr. Alyssa Zingman, and the Ehlers-Danlos Society.
Ehlers-Danlos syndrome is a connective tissue disorder that is inherited and is often associated with hypermobility, lax joints, easy bruising, and poor healing (Malfait et al., 2017). There is a lot of variability in how it affects the body. Click here to read about the different subtypes.
Lacking in research, the hypermobile EDS (hEDS) has no genetic cause yet that has been identified. A clinical diagnosis of hEDS needs to be met with three different criteria. While the Beighton score (9 point score) is used as a tool for assessing generalized joint hypermobility, it does not represent the full picture and has been criticized in the last few years as lacking and not sufficient. Most children are fairly flexible, and with age, most adults cannot do the things they were able to do as before.
Why do you think the zebra used as the symbol for EDS? Most often, medical doctors look for the most common diagnosis. When you hear hoofbeats, you often think of a horse, but instead with EDS patients you get a zebra. In addition, no two zebras are alike. Every single EDS patient needs an individualized, care plan with multiple providers.
A care team should be multi-disciplinary, and should include:
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An orthopedic doctor
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A geneticist
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An immunologist
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A dermatologist
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An opthamologist (eye specialist)
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A rheumatologist
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A regular ob/gyn if considering having children
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A sexual medicine doctor (vulvar, erectile)
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A cognitive therapist for pain management, anxiety, depression, and PTSD
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A pain management doctor
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A physiotherapist/orthopedic physical therapist (specializing in feet, hips, shoulders, lower back)
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A pelvic floor physical therapist
References:
Cortini, F., & Villa, C. (2018). Ehlers-Danlos syndromes and epilepsy: An updated review. Seizure, 57, 1–4. https://doi.org/10.1016/j.seizure.2018.02.013
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel-Gigleux, S., Frank, M., Ghali, N., Giunta, C., … Tinkle, B. (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American journal of medical genetics. Part C, Seminars in medical genetics, 175(1), 8–26. https://doi.org/10.1002/ajmg.c.3155
Known Clinics for EDS in the United States
Tulane Ehlers-Danlos Society
Kelly Clinic
Dr. Francomanco in Indiana
Mayo Clinic in Minnesota and Florida
UT Southwestern in Dallas
Prism Spine and Joint in Maryland