What is EDS?
Ehlers-Danlos Syndrome (EDS) is a group of 13 inherited connective tissue disorders that affects the connective tissue in the body (Ehlers-Danlos, 2024). Connective tissues are important to provide strength, elasticity, support, and protection in our body’s skin, joints, blood vessels, and other organs. Each type of EDS presents with its own diagnostic criteria, but common characteristics include joint hypermobility, skin hyperextensibility, and tissue fragility. Consequently, people with EDS often present with hypermobility, skin that bruises, tears or scars easily, chronic pain, fatigue, and issues with their blood vessels and organ functioning. It is difficult to know how many people have EDS, but estimates suggest that it affects 1 in 5000 to 1 in 20,000 people worldwide. Hypermobile EDS is the most common type and accounts for approximately 90% of EDS cases.
Pain is unfortunately common with EDS from the overload of musculoskeletal structures and abnormal movement patterns due to joint instability. Central sensitisation can occur too resulting in people with EDS being hypersensitive to painful stimuli (Ehlers-Danlos Society 2022). Fatigue is also extremely common and can be due to a dysregulation of the autonomic nervous system, for example low blood pressure with a fast heart rate, and gastrointestinal problems. This can all lead to a decreased exercise tolerance and difficulty performing daily tasks. Psychological symptoms such as depression, and anxiety are also common co-morbidities (Ehlers-Danlos Society 2022).
Ehlers-Danlos Syndrome (EDS) is a group of 13 inherited connective tissue disorders that affects the connective tissue in the body (Ehlers-Danlos, 2024). Connective tissues are important to provide strength, elasticity, support, and protection in our body’s skin, joints, blood vessels, and other organs. Each type of EDS presents with its own diagnostic criteria, but common characteristics include joint hypermobility, skin hyperextensibility, and tissue fragility. Consequently, people with EDS often present with hypermobility, skin that bruises, tears or scars easily, chronic pain, fatigue, and issues with their blood vessels and organ functioning. It is difficult to know how many people have EDS, but estimates suggest that it affects 1 in 5000 to 1 in 20,000 people worldwide. Hypermobile EDS is the most common type and accounts for approximately 90% of EDS cases.
Pain is unfortunately common with EDS from the overload of musculoskeletal structures and abnormal movement patterns due to joint instability. Central sensitisation can occur too resulting in people with EDS being hypersensitive to painful stimuli (Ehlers-Danlos Society 2022). Fatigue is also extremely common and can be due to a dysregulation of the autonomic nervous system, for example low blood pressure with a fast heart rate, and gastrointestinal problems. This can all lead to a decreased exercise tolerance and difficulty performing daily tasks. Psychological symptoms such as depression, and anxiety are also common co-morbidities (Ehlers-Danlos Society 2022).
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To find out more about the inheritance pattern and affected gene(s) visit the Ehler-Danlos Society for more information.
Diagnostic
A genetic test should be conducted to confirm the diagnosis of EDS, however for hypermobile EDS the genes have not yet been identified. Therefore, these people will be diagnosed if they meet the criterion 1, 2 and 3 on the ‘Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome’. To see the full diagnostic criteria, or test yourself, visit this link.
The Beighton Scoring system is a recognised tool used to measure joint hypermobility and can be easily executed. It is a 9-point scale, where a score of 5 or greater is significant for joint hypermobility. However, it is important to note that joint hypermobility decreases with age, so children can be over diagnosed and adults under diagnosed. Therefore, for pre-pubertal children and adolescents a score of 6 or greater is significant, for pubertal men and women up to the age of 50 years a score of 5 or greater, and for those over 50 years of age, a score of 4 or greater is significant (Malfait et al 2017).
A genetic test should be conducted to confirm the diagnosis of EDS, however for hypermobile EDS the genes have not yet been identified. Therefore, these people will be diagnosed if they meet the criterion 1, 2 and 3 on the ‘Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome’. To see the full diagnostic criteria, or test yourself, visit this link.
The Beighton Scoring system is a recognised tool used to measure joint hypermobility and can be easily executed. It is a 9-point scale, where a score of 5 or greater is significant for joint hypermobility. However, it is important to note that joint hypermobility decreases with age, so children can be over diagnosed and adults under diagnosed. Therefore, for pre-pubertal children and adolescents a score of 6 or greater is significant, for pubertal men and women up to the age of 50 years a score of 5 or greater, and for those over 50 years of age, a score of 4 or greater is significant (Malfait et al 2017).
1(Ehlers-Danlos Society 2024)
How can physiotherapy help EDS?
Physiotherapy plays an important role in managing people with EDS, with a recent systematic review showing it can significantly help physical and psychological function, and quality of life (Smith, J, & Doe 2021). Physiotherapists can create individualised treatment plans that aid muscle strength, joint stability and reduce pain and risk of injury (Daman, et al 2019).
Here are some of the many ways physiotherapists can support people with EDS:
Physiotherapy plays an important role in managing people with EDS, with a recent systematic review showing it can significantly help physical and psychological function, and quality of life (Smith, J, & Doe 2021). Physiotherapists can create individualised treatment plans that aid muscle strength, joint stability and reduce pain and risk of injury (Daman, et al 2019).
Here are some of the many ways physiotherapists can support people with EDS:
- Muscle strengthening: physiotherapists can create personalised exercise programs targeted to strengthen muscles to support hypermobile joints. This helps to reduce the risk of subluxations and dislocations.
- Joint stabilisation training: physiotherapists can help individuals better control their joint movements to reduce the risk of injury with a balance and proprioception program, and techniques such as proprioceptive neuromuscular facilitation (PNF).
- Pain management: physiotherapists can use manual therapy and help people develop self-management techniques to provide pain relief.
- Education: physiotherapists can provide education about the EDS condition, activity modifications, and managing fatigue and pain and more.
- Assisted Devices and Orthotics: physiotherapists can recommend appropriate braces, splints, and orthotics that could further support unstable joints and improve function.
- Hydrotherapy: water-based exercises can reduce stress on joints while working to improve strength and cardiovascular fitness.
- Multi-disciplinary team: physiotherapists can recommend and work part of a multi-disciplinary team to collaborate with other medical professionals such as rheumatologists, specialist pain clinic, dieticians, psychologists, and naturopaths to ensure the person is receiving adequate and comprehensive treatment.
Annina D'Amico - Physiotherapist
Annina graduated from the University of South Australia with a Bachelor of Physiotherapy (Honours). She is passionate about helping clients feel and move better. Annina enjoys helping her clients achieve their goals with manual therapy, active rehabilitation and education, and tailoring programs to suit her clients’ needs. Annina is a firm believer in understanding her clients and their lifestyle, in order to achieve the best outcomes.
References
Daman, M., Shiravani, F., Hemmati, L., & Taghizadeh, S. (2019). The effect of combined exercise therapy on knee proprioception, pain intensity and quality of life in patients with hypermobility syndrome: a randomized clinical trial. Journal of Bodywork and Movement Therapies, 23, 202–205.
Ehlers-Danlos Society. (2022). Evidence-Based Rationale for Physical Therapy Treatment for JHShEDS. Retrieved from www.ehlers-danlos.com/wp-content/uploads/2022/03/Evidence-Based-Rationale-for-Physical-Therapy-Treatment-for-JHShEDS-S.pdf
Ehlers-Danlos Society. (2024) What is EDS? Ehlers-Danlos Society. Retrieved from https://www.ehlers-danlos.com/what-is-eds/
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., ... & 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. Retrieved from https://www.ehlers-danlos.com/wp-content/uploads/2022/03/Malfait_et_al-2017-American_Journal_of_Medical_Genetics_Part_C__Seminars_in_Medical_Genetics.pdf
Smith, J., & Doe, A. (2021). Title of the Article. Journal Name, Volume(Issue), Page Range. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9214343/pdf/main.pdf
Daman, M., Shiravani, F., Hemmati, L., & Taghizadeh, S. (2019). The effect of combined exercise therapy on knee proprioception, pain intensity and quality of life in patients with hypermobility syndrome: a randomized clinical trial. Journal of Bodywork and Movement Therapies, 23, 202–205.
Ehlers-Danlos Society. (2022). Evidence-Based Rationale for Physical Therapy Treatment for JHShEDS. Retrieved from www.ehlers-danlos.com/wp-content/uploads/2022/03/Evidence-Based-Rationale-for-Physical-Therapy-Treatment-for-JHShEDS-S.pdf
Ehlers-Danlos Society. (2024) What is EDS? Ehlers-Danlos Society. Retrieved from https://www.ehlers-danlos.com/what-is-eds/
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., ... & 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. Retrieved from https://www.ehlers-danlos.com/wp-content/uploads/2022/03/Malfait_et_al-2017-American_Journal_of_Medical_Genetics_Part_C__Seminars_in_Medical_Genetics.pdf
Smith, J., & Doe, A. (2021). Title of the Article. Journal Name, Volume(Issue), Page Range. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9214343/pdf/main.pdf
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