1. Ehlers-Danlos Syndrome (EDS)
Inservice- Kara Vanderboon, OTS

2. Objectives Overview of Ehlers-Danlos Syndrome (EDS) as a condition
Consider how EDS can affect daily life
Explore therapeutic interventions to manage EDS symptoms

3. Introduction of EDS Chronic fatigue/pain
Genetic- connective tissues have defective collagen and/or reduced amounts of collagen
Affects body structure. This may include:
Joint instability
Fragile skin
Poor muscle tone/unsupportive ligaments
Arterial/intestinal/organ fragility or rupture
Chronic fatigue/pain

4. Types of EDS
Hypermobility Type: joint hypermobility, chronic pain, variable skin involvement
Beighton Score Screen
Classical Type: mild to severe skin involvement with widened atrophic scars, molluscoid pseudo tumors, cysts, muscle hypotonia and joint hypermobility
Vascular: risk of arterial/organ rupture, very thin/fragile skin

5. Types of EDS cont.
Kyphoscoliosis: Scoliosis at birth that is progressive, severe muscle hypotonia
Arthrochalasia: Congenital hip dislocation, severe joint hypermobility
Dermatosparaxis: Severe skin involvement and bruising

6. Prevalence Combined Prevalence of all types: 1/5,000
Hypermobility Type:
1/10,000-15,000
Classical Type:
1/20,000-40,000
“Medical Zebra”

7. How EDS may affect daily occupations…
ADLs/IADLs- decreased activity endurance, fine/gross motor limitations
Sleep- positioning without causing stress to the body
Work/Education- decreased concentration, productivity can be affected
Leisure/Social Participation- Increased risk of injury, kinesiophobia/anxiety

8. Intervention Possibilities
Splints/braces
Strengthening

9. Intervention Possibilities cont.
Conservative management of pain/fatigue
Relaxation training/techniques
Modalities
Pacing/ergonomic recommendations
Assess sleep environment
Cognitive Behavioral Therapy (CBT) to address kinesiophobia/mental response to fatigue and pain

10. Intervention Possibilities cont.
Equipment for joint protection/energy conservation
Examples:
Built or elongated handles
Ergonomic design
Automatic tools

11. References
Bergqvist, D., Björck, M., & Wanhainen, A. (2013). Treatment of vascular Ehlers-Danlos Syndrome: A systematic review. Annals of Surgery, 258(2), doi: /SLA.0b013e31829c7a59
Castori, M., Morlino, S., Celletti, C., Celli, M., Morrone, A., Colombi, M., … Grammatico, P. (2012). Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. American Journal of Medical Genetics Part, 158A(8), doi: /ajmg.a.35483
Genetics Home Reference. (2015). Ehlers-Danlos Syndrome. Retrieved from
Knight, I., & Ebooks Corporation. (2013). A multi-disciplinary approach to managing Ehlers-Danlos (type III)—hypermobility syndrome: Working with the chronic complex patient. London: Singing Dragon.
Murray, K. J. (2006). Hypermobility disorders in children and adolescents. Best Practice & Research Clinical Rheumatology, 20(2), doi: /j.berh

12. References Cont.
O’Sullivan, M. & Pavlis, M. (n.d.) Occupational therapy management of hypermobility in Ehlers-Danlos Syndrome. Retrieved from ment_of_Hypermobility_in_EDS_notes.pdf
Rehabilitation Institute of Chicago (2014). Inpatient rehabilitation for Ehlers- Danlos Syndrome. Retrieved from
Smith, T. O., Bacon, H., Jerman, E., Easton, V., Armon, K., Poland, F., & Macgregor, A. J. (2014). Physiotherapy and occupational therapy interventions for people with benign joint hypermobility syndrome: A systematic review of clinical trials. Disability and Rehabilitation, 36(10), doi: /
The Ehlers-Danlos National Foundation (2016). Retrieved from
Zwarts, M. J., Voermans, N. C., Schalkwijk, J., Hamel, B. C. J., Lammens, M. M. Y., Pillen, S.. . Alfen, N. (2009). Neuromuscular involvement in various types of Ehlers-Danlos Syndrome. Annals of Neurology, 65(6), doi: /ana.21643