HHE 2018 | Page 185

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 movement . 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 .

For more information and the latest updates please visit : ehlers-danlos . com

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 .

Table 2

HSDs types

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