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)
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)
What can you do?
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.
References
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/
Comments