HHE Rheumatology and musculoskeletal supplement 2018

treated as an individual. HSD and hEDS can be equal in severity, but more importantly, both need similar management, validation, and care. There may be a scenario where the diagnosis of HSD is given to an individual with a family history of hEDS (that is, relatives with an independent diagnosis of hEDS). 4 When does hypermobility become a problem? A good place to start when it comes to understanding EDS and HSDs is to ask the question – what is joint hypermobility? Joint hypermobility is a term to describe the capability of joints to move beyond normal limits. It can exist by itself or be a part of a more complex diagnosis. There are some who have extreme hypermobility, and have no reports of symptoms – for example, dancers and athletes – but there are those who experience chronic pain and complications as a result of their hypermobile joints. Hypermobility can either be localised (in a single joint) or generalised (across the body). Joint hypermobility depends on age, gender, family and ethnic background. A tool that it used to measure hypermobility is the Beighton Score. This is an assessment that is done in clinic and measures the hypermobile range and helps to define a diagnosis. The Beighton Score A score of 5/9 or greater defines hypermobility. The total score is obtained by: 1 Forward flexion of the trunk with knees fully extended so that the palms of the hand rest flat on the floor – one point 2 Hyperextension of the elbows beyond 10 degrees – one point for each elbow 3 Hyperextension of the knees beyond 10 degrees – one point for each knee 4 Passive apposition of the thumbs to the flexor aspect of the forearm – one point for each hand 5 Passive dorsiflexion of the little fingers beyond 90 degrees – one point for each hand. 5 Joint hypermobility can be symptomless other than the increased mobility, but there are a series of other symptoms that can result from that mobility. Trauma can occur and either be macro-trauma, including dislocations, subluxations, and soft tissue damage (ligaments, tendons, muscles). This can cause acute pain and loss of joint function. There can also be micro-trauma when injuries are too small to be noticed in situ, but over time they can lead to recurrent or persistent pain – and possibly early joint degeneration like osteoarthritis. Another consequence can be pain. Occasional, recurring pain is a natural result of the trauma, but chronic pain can develop – perhaps because of unusual sensitivity to pain (hyperalgesia), or impaired connective tissue function (as suggested by the discovery of small fibre neuropathy in adults with classical, hypermobile, and vascular EDS). There can also be a disturbance in proprioception, which is the sense of the relative position of parts of the body and how much effort is needed for m ovement. Not understanding where joints are and how much muscle strength it takes to use them can lead to a cycle that increasingly limits the ability to manage everyday life (www.ehlers-danlos.com). Conclusions The future is brighter for hypermobility and specifically within EDS and HSD. Now there is a proactive international consortium tasked with the research and advancement of the Ehlers-Danlos syndromes and hypermobility spectrum disorders, there might well be revisions as early as the next symposium in 2018. What cannot be questioned is that hypermobility in itself is highly prevalent in society, and it is important to consider these diagnoses when it is present. EDS and HSDs remain disorders that are both under- and mis-diagnosed in the medical world, and education and more importantly, re-education is essential to prevent this community suffering any further neglect. With 2018 seeing the Ehlers-Danlos Society launching the first EDS global registry, and being awarded a million dollars to find the genetic causations for hypermobile EDS – it is an exciting time that promises progression and advancement in this important disorder. References 1 Bloom L et al, on behalf of the Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes. The International consortium on the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 2017;175C:5–7. 2 https://www.ehlers-danlos. com/classification-update/ (accessed June 2018) 3 Steinman B, Superti-Furga A, Royce PM. Ehlers-Danlos syndrome. In: Fernandes J, Saudubray JM, Tada K (eds). Inborn metabolic diseases, diagnosis and treatment. Berlin: Springer;2017:525–61. 4 Castori M et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 2017;175C:148–57. 5 Juul-Kristensen B et al. Measurement properties of clinical assessment methods for classifying generalized joint hypermobility – A systematic review. Am J Med Genet Part C Semin Med Genet 2017;175C:116–47. For more information and the latest updates please visit: ehlers-danlos.com Table 2 HSDs types Type Beighton score Musculoskeletal involvement Asymptomatic GJH Positive Absent Asymptomatic PJH Usually negative Absent Negative Absent Asymptomatic LJH G-HSD Positive Present P-HSD Usually negative Present L-HSD Negative Present H-HSD Negative Present Present Hypermobile EDS Positive www.ehlers-danlos.com 13 HHE 2018 | hospitalhealthcare.com Notes Typically limited to hands and/or feet Limited to single joints or body parts Typically limited to hands and/or feet Limited to single joints or body parts Historical presence of JH

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