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Hypermobility Spectrum Disorder (HSD)

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Hypermobility Spectrum Disorder (HSD) Hypermobility Spectrum Disorder (HSD) Dr Alan Hakim MA FRCP Consultant Rheumatologist & Acute Physician Clinical Lead, Hypermobility Unit, The Wellington Hospital, London UK For The Ehlers-Danlos Society: Director of Education Member, Medical & Scientific Board Member, Steering Committee, The Internal Collaborative on EDS Member, PCORI EDS Co-morbidity Coalition Content • Bridging the gap between hypermobility in the well population, and hEDS • A spectrum of illness rather than a single definition – Regional vs general hypermobility – Associations / co-morbidities • Clinical Practical 3 For colleagues not familiar with the 2017 classification and terminology, the Joint Hypermobility Syndrome (JHS) diagnostic criteria covered a wide group of patients some of whom had signs and symptoms that might equally be described as the Hypermobile variant of Ehlers-Danlos syndrome (EDS-HM). As such some confusion arose over the use of JHS/EDS-HM co-terminology. 4 The 2017 international criteria for the Hypermobile variant of EDS (hEDS) were developed to address this, give clarity as to the diagnosis of hEDS, and also allow opportunity for more focused basic science and clinical research including assessment of treatment outcomes. 5 The term JHS has been dropped. Those individuals with hypermobility-related problems that do not have hEDS; or any other Heritable Disorder of Connective Tissue; or other syndromic or secondary myopathic, neuropathic, or traumatic cause for hypermobility / joint instability are now given the diagnosis of Hypermobility Spectrum Disorder (HSD). 6 There is a ‘spectrum’ of presentations laying between asymptomatic hypermobility and the diagnosis of hEDS. This does not infer any greater severity at one end of the spectrum compared to the other. A person with HSD can have severe problems, and a person with hEDS minor problems. 7 From a clinical perspective for the majority of concerns that arise across the spectrum, whether HSD or hEDS, the treatment approaches are the same at present. Both are associated with particular patterns of complex concerns.. 8 From 1990s to 2016 1997 Criteria for Benign Joint 1997 Villefranche Criteria for Hypermobility Syndrome EDS type III BJHS 1990s EDS 3 Early 2000s JHS EDS HT Late 2000s JHS / EDS-HT 9 Tinkle BT, Bird HA, Grahame R, et al. Am J Med Genet A. 2009 Nov;149A(11):2368-70 Early 2000s JHS EDS 3 Late 2000s JHS / EDS-HT Hypermobile EDS The 2017 Criteria 11 On the far left the person is hypermobile and well with nothing else to find; on the far right the person has hEDS defined by the new criteria. In the middle the term Hypermobility Spectrum Disorder was introduced – people with their own sets of problems due to their hypermobility but who do not have hEDS or other HDCT. The Hypermobility Spectrum Disorder Hypermobile EDS The 2017 Criteria 13 The Hypermobility Spectrum Hypermobile EDS Classification Criteria HSD Hypermobile EDS Classification Criteria Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the classification of joint hypermobility and related conditions Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-157. Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr. 2017 Dec;29(6):640-649 Rheumatoid Arthritis Treatments: Therapies, Painkillers, Steroids, Disease modifying drugs Palindromic Biologic treatments Rheumatism Sero-negative RA Sero-positive RA Complications: Felty’s Syndrome Blood, Heart, Lungs, Liver, Kidneys, Nervous System 16 Hypermobility Spectrum Disorder & hEDS Treatments: Therapies, Painkillers, HM and injury / Specific treatment for co-morbidities MSK pain HM and MSK and systemically Unwell No signs of EDS HM, Unwell and Complications: signs of EDS ie. Autonomic hEDS Gastrointestinal Neurological Uro-gynaecological MCAS 17 Multiple Morbidity or True Association? DISORDER HSD hEDS Multiple Morbidity True Association The Ehlers-Danlos Syndromes: Reports from the International Consortium on the Ehlers-Danlos Syndromes Am J Med Genet 2017 Volume 175, Issue 1; 1–245 Issue edited by: Brad T. Tinkle, Fransiska Malfait, Clair A. Francomano, Peter H. Byers 18 Working to the 2017 Criteria of hEDS and descriptors for HSD Clarity of diagnosis reduces variation Within a patient group, affording better understanding of: • Epidemiology • Pathophysiology • Nature and outcomes of Treatment • Social impact • Health Economics 19 There is a ‘spectrum’ of presentations laying between asymptomatic hypermobility and the diagnosis of hEDS. This does not infer any greater severity at one end of the spectrum compared to the other. A person with HSD can have severe problems, and a person with hEDS minor problems. 20 From a clinical perspective for the majority of concerns that arise across the spectrum, whether HSD or hEDS, the treatment approaches are the same at present. Both are associated with particular patterns of complex concerns.. 21 In Clinical Practice • Recognizing HSD and hEDS as legitimate / real concerns (clinicians / organizations / policy makers) • Increasing awareness of the breath and patterns of presentation • Increasing awareness of the impact of these concerns on physical, emotional, social wellbeing • Understanding the treatment / support options and providing the resources needed Thank You.
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