Hypermobility and Elhers-Danlos Syndrome
Hypermobility
Have you noticed growing up that you’ve been more flexible than all your classmates and friends? Are you able to move your body parts (fingers, wrist, knees, shoulders) into hyper extended positions? Are you experiencing other symptoms like ongoing pain, dislocations, and fatigue?
You could have hypermobility spectrum disorder (also known as joint hypermobility syndrome).
Hypermobility spectrum disorder (JSD) is a connective tissue disorder that affects joints and ligaments. Different sub-types have been created however it does not include asymptomatic joint hypermobility, AKA double-jointedness.
HSD is prevalent in 1 in 500-600 births and is associated with several signs and symptoms including:
Pain and Fatigue
Frequent injuries, including dislocations, subluxations, sprains and microtraumas
Nausea, vomiting and food intolerances
Autonomic disturbances of heart rate and blood pressure causing dizziness when standing
Poor proprioception/clumsiness
Issues with bladder and bowel and the pelvic floor
Temperature regulation
Anxiety, depression, and phobias
(The Ehlers-Danlos Society, 2021)
Research has found a link between Autism Spectrum disorder and hypermobility disorders and signified that connective tissue impairments may impact brain development either directly or indirectly (Casanova, Baeza-Velasco, Buchanan & Casanova, 2020).
HSD is similar to Ehlers Danlos Syndromes (EDS), both involve joint hypermobility however HSD is the absence of other connective tissue disorders that EDS presents with (eg. changes in the skin, gums, bowel, and blood vessel rupture).
The severity of symptoms varies between individuals and over time. Some individuals can be affected more than others and as there is no cure, it can be managed through medication, joint care, physiotherapy, and pacing (Hypermobility Syndromes Association, 2021)
Ehlers-Danlos Syndromes:
Ehlers-Danlos Syndromes (EDS) are a group of hereditary disorders that affect the connective tissue in our bodies. Common features include joint hypermobility, joint instability, reoccurring dislocation and subluxation of joints, skin hyperextensibility, easy bruising and abnormal scarring (Malfait et al., 2017). EDS occurs 1 in every 2,500- 5,000 births (National Organization for Rare Disorders, 2021) .
These conditions are chronic, lifelong and have no cure. It is caused by genetic defects in collagen, one of the major structural components in the body. Collagen acts as a building block, vital in strengthening connective tissue and allowing flexibility where required. People with EDS either have poor strength in their collagen or do not have enough amounts of normal collagen, resulting in complications in their skin, muscles, skeleton, and blood vessels (National Organization for Rare Disorders, 2021)
Types:
There are 13 types of EDS, most of which are very rare:
Hypermobile (hEDS)
- Classical (cEDS)
Classical-like (clEDS)
Vascular (vEDS)
Kyphoscoliotic (kEDS)
Cardio-vulvular (cvEDS)
Arthrochalasia (aEDS)
Dermatoparaxis (dEDS)
Brittle cornea syndrome (BCS)
Spondylodysplastic EDS (spEDS)
Musculocontractural EDS (mcEDS)
Myopathic EDS (mEDS)
Periodontal EDS (pEDS)
They all have differentiating features as you can tell by the names.
Hypermobile (hEDS) is the most common and can be mistaken for HSD.
Common signs and symptoms include the following:
joint hypermobility
loose, unstable joints that dislocate easily
joint pain and clicking joints
extreme tiredness (fatigue)
skin that bruises easily
digestive problems, such as heartburn and constipation
dizziness and an increased heart rate after standing up
problems with internal organs, such as mitral valve prolapse, or organ prolapse
problems with bladder control (stress incontinence)
There are currently no tests to confirm whether someone has hEDS. The diagnosis is made based on a person's medical history, subjective and physical examination
Physiotherapy:
Hypermobility of the joints can cause pain and increased occurrence of dislocations. HSD and EDS are lifelong conditions; therefore, physiotherapy is focused on injury prevention and symptom management to reduce disability and improve quality of life (Palmer et al., 2016).
Your local physio will go through a thorough assessment, gaining an extensive history & background of your condition and conduct a physical exam. Beighton’s mobility score is the gold standard assessment for hypermobility.
They will then design an individualised exercise program that you can do at home, tailored to your needs. The prescribed exercises will help you to build more muscle around your joints to provide extra support.
Treatments that have been effective in treating EDS pain include joint mobilisation with muscle release, trunk stabilisation and core exercises, posture re-education and joint awareness using biofeedback devices (Engelbert et al., 2017).
Compressive clothing and proprioceptive show inserts have also been shown to help improve proprioceptive disorders in people living with EDS (Engelbert et al., 2017).
A study by Camerota et al., (2015) found that neuromuscular taping was a low-cost intervention for improving walking strategies in patients with HSD and hEDS.
Stretches and massages for tight overactive muscles are also used to help improve flexibility and movements of your joints. EDS patients perceive massage therapies and the use of splints and braces to be effective in managing their acute and chronic pain (Zhou,Rewari & Shanthanna, 2018).
Your physiotherapist will also give you advice and education about pacing for managing fatigue. Pacing is the art of breaking your life into small manageable micro-tasks so that you can complete your activities of daily living throughout the day without feeling overly fatigued and exhausted.
If you are hypermobile and are experiencing joint pain, fatigue and other symptoms impacting your day-to-day life, make an appointment with your local physio today.
By Priya Narayan, Physiotherapy student at Exercise Thought
References:
Camerota, F., Galli, M., Cimolin, V., Celletti, C., Ancillao, A., Blow, D., & Albertini, G. (2015). The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. Therapeutic advances in musculoskeletal disease, 7(1), 3–10. https://doi.org/10.1177/1759720X14564561
Casanova, E. L., Baeza-Velasco, C., Buchanan, C. B., & Casanova, M. F. (2020). The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders. Journal of personalized medicine, 10(4), 260. https://doi.org/10.3390/jpm10040260
Engelbert, R. H., Juul-Kristensen, B., Pacey, V., de Wandele, I., Smeenk, S., Woinarosky, N., Sabo, S., Scheper, M. C., Russek, L., & Simmonds, J. V. (2017). The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. American journal of medical genetics. Part C, Seminars in medical genetics, 175(1), 158–167. https://doi.org/10.1002/ajmg.c.31545
Hypermobility Syndromes Association. (2021). HSD: Symptoms. Retrieved from https://www.hypermobility.org/hsd-symptoms
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.31552
National Organization for Rare Disorders. (2021). Ehlers Danlos Syndromes. Retrieved from https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
Palmer, S., Terry, R., Rimes, K., Clark, C., Simmonds, J., & Horwood, J. (2016). Physiotherapy management of joint hypermobility syndrome – a focus group study of patient and health professional perspectives. Physiotherapy, 102(1), 93-102. doi: 10.1016/j.physio.2015.05.001
The Ehlers-Danlos Society. (2021). What are the Ehler-Danlos Syndromes? Retrieved from https://www.ehlers-danlos.com/what-is-eds/
Zhou, Z., Rewari, A., & Shanthanna, H. (2018). Management of chronic pain in Ehlers-Danlos syndrome: Two case reports and a review of literature. Medicine, 97(45), e13115. https://doi.org/10.1097/MD.0000000000013115