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EDS — My First 50 Years!

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EDS — My First 50 Years! EDS – my first 50 years! Rodney Grahame Honorary Professor UCL Unit for Rheumatology & Connective Tissue Disease, University College London and the London International Hypermobility Clinic “MARS AND VENUS” by SANDRO BOTTICELLI circa 1500 Spot the signs of EDS. More about this later… In the beginning… There were two diseases: one for rheumatologists – JHS one for geneticists – EDS III who rarely talked to one another! HMS 1967 EDS III 1968 (KIRK, ANSELL & (BEIGHTON) BYWATERS) HAMMERSMITH HOSPITAL ST THOMAS’ HOSPITAL 7.9 miles HMS 1967 EDS III 1968 (KIRK et al) (BEIGHTON) RHEUMATOLOGY GENETICS ERIC BYWATERS VICTOR McKUSICK “THE HYPERMOBILITY SYNDROME” “Musculoskeletal symptoms in the presence of generaliseD joint laxity in otherwise normal subjects”. “THE HYPERMOBILITY SYNDROME” “Another view is that isolated ligamentous laxity is a mild mesenchymal developmental disorder which lies at one end of a spectrum of heredofamilial connective tissue disease with the fully-developed picture of MFS or EDS at the other [Brown, Rowatt & Rose 1966]. HMS 1967 EDS III 1968 (KIRK et al) (BEIGHTON) RHEUMATOLOGISTS GENETICISTS JOINTS GENETICS OVERLAP WITH HDCTs HDCTs BRIGHTON (1998) BERLIN (1986) ANXIETY & PHOBIAS VILLEFRANCHE (1997) (Bulbena 1988-) CHRONIC PAIN (Sacheti 1997) AUTONOMIC DYSFUNCTION AUTONOMIC DYSFUNCTION (Gazit 2003) (Rowe 1999) GASTROINTESTINAL GASTROINTESTINAL DYSMOTILITY TINKLE et al 2009 DISORDERS (Zarate 2010) (Levy et al 1999) ‘INDISTINGUISHABLE FROM ONE ANOTHER’ Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet Part A 2009 149A:2368–2370. • It is our collective opinion that BJHS/HMS and EDS hypermobility type represent the same phenotypic group of patients that can be differentiated from other HCTDs but not distinguished from each other. • Clinically, we serve this population better by uniting the two diagnostic labels. With this approach, we can strive to better define the phenotype and improve measurable outcomes of this patient population. • Furthermore, we recognize that it is important that, in those hypermobility patients who develop potentially debilitating symptoms of chronic fatigue or polyarthralgia, whatever the underlying cause, there should be prompt and appropriate intervention [Keer and Grahame, 2003]. There followed 40 years in the wilderness! Changing Phenotype from 1967-2010 • We were seeing new co-morbidities appearing with bewildering frequency every 10 years. • Difficulty in keeping pace with expanding phenotype. • Handful of ‘EDS’ specialists. • Era of disbelief giving rise to denial and even hostility emanating from colleagues in many specialties. • Lack of treatment facilities. MUSCULOSKELETAL PAIN/JOINT INSTABILITY • 1967 OVERLAP WITH HDCT/SKIN/HABITUS • 1970 UTERINE/RECTAL PROLAPSE • 1980 CHRONIC PAIN SYNDROME • 1990 ANXIETY/PHOBIAS • 2000 DYSAUTONOMIAS GI DYSMOTILITY PROGRESSIVE • 2010 DISABILITY MUSCULOSKELETAL PAIN/JOINT INSTABILITY • 1967 OVERLAP WITH HDCT/SKIN/HABITUS • 1970 UTERINE/RECTAL PROLAPSE • 1980 ANXIETY/PHOBIAS • 1990 CHRONIC PAIN SYNDROME • 2000 DYSAUTONOMIAS GI DYSMOTILITY CHIARI 1 + PROGRESSIVE CRANIO-CERVICAL • 2010 DISABILITY INSTABILITY MAST CELL + 2013 ACTIVATION TETHERED CORD + DISORDER LOW CSF PRESSURE HEADACHE We wondered what was next… Then something wonderful happened... The Aims of Rehabilitation (After Anna Edwards-Fowler and Rosemary Keer) developed from the 1980s • Reassurance, education and advice. • Improving spinal posture by developing core stability • Enhancing joint stability by encouraging joint-stabilising exercises. • Improving joint proprioception by suitable exercises • avoiding resting in end-of-range (harmful) postures. • Manual therapy to restore normal (hyper) mobility. • Using pacing, coping and other behavioural strategies in severe or widespread chronic pain. • Reversing deconditioning and enhancing fitness and stamina by aerobic exercise. • Invoking self-management thereby restoring self-esteem and self-efficacy. Revised “1998 Brighton” diagnostic criteria for the Benign Joint Hypermobility Syndrome MAJOR CRITERIA MINOR CRITERIA • Beighton score > 4/9 • Beighton score of 1,2, or 3/9 (0, if aged 50+) (currently/historically) • Arthralgia in 1-3 joints/ back pain/spondylosis/ • Arthralgia > 3 months spondylolysis/’olisthesis. in >4 joints • Dislocation in >1 joint, or in 1 joint on >1 x The BJHS is diagnosed with: 2 major criteria or • > 3 soft tissue lesions 1 major and 2 minor criteria or • Marfanoid habitus 4 minor criteria. • Skin: striae, thin, 2 minor + 1° degree relative. stretchy, abnormal scarring. BJHS is excluded by presence of • Eye signs: drooping Marfan or Ehlers-Danlos syndromes eyelids or myopia (other than the EDS Hypermobility • Varicose veins/hernia/ type formerly EDS III) as defined uterine/rectal prolapse by the Ghent 1996 and Villefranche 1998 criteria respectively Estimates of Misdiagnoses • Each consultant is actually seeing 224 JHS pts/yr. • Estimated 119,809 NEW JHS patients attending clinics annually. • Consultants estimate 5,600 NEW JHS patients attending their clinics annually [10 EACH]. • 119,809 JHS patients unrecognised p.a. • Equivalent to 94.52%. • Only 4.67% are being recognised. “For every single patient in England with joint hypermobility syndrome fortunate enough to be correctly diagnosed by a rheumatologist, there are 19 others who are not, passing unnoticed, undiagnosed and presumably, untreated.” Unique in the history of medicine • Medical students generally not taught about it. • Teachers of medical students don’t teach it. • Doctors in general tend not to know about it. • Rheumatologists still follow concepts of 1970s (comfort zone). • Most therapists not trained to treat it. • Epidemiologists have chosen to ignore it. • Research funding bodies rarely support it. • Patients better informed than their doctors. • Patients are left to their own devices. • No other disease is neglected in this way. Multi-Specialty Care GASTRO PHYSIOTHERAPY ADULT RHEUM OCCUPATIONAL THERAPY PODIATRY PAIN PSYCHOLOGY RHEUMATOLOGY NURSE PAED RHEUM AUTONOMIC PAEDS GENERAL CV-MED ORTHOPAEDICS OBSTETRICS PLASTIC SURG CARDIOLOGY NEUROLOGY SPORTS MED PAIN MEDICINE ENDOCRINE CLINICAL GENETICS URO- GYNAECOLOGY etc. RESARCH TRAINING NEURO-RADIOLOGY NEUROSURGERY Closure of UK’s EDS Facilities GLASGOW GLASGOW (RHEUMATOGY) LEEDS (REHABILITATION) LEEDS BATH (RHEUMATOLOGY/ REHABILITATION) – OPEN LONDON (NEXT SLIDE) LONDON BATH READAPTATION INTENSIVE/ RHUMATOLOGIE;DOULEUR CHIRURGIE ORTOPEDIQUE GASTROENTEROLOGIE – GENETIQUE SED ADULTE & ENFANTS - TYPES RARES DYSAUTONOMIE DOULEUR KINESITHERAPIE - ENFANTS Specialist Services for EDS MIS-DIAGNOSES ADULTS CHILDREN • FIBROMYALGIA • CONGENITAL HYPOTONIA • OSTEOARTHRITIS • LAZINESS • SERONEGATIVE ARTHROPATHY • SCHOOL PHOBIA • PSYCHOGENIC RHEUMATISM • DYSFUNCTIONAL FAMILY • DEPRESSION • FABRICATED OR INDUCED ILLNESS • CHRONIC FATIGUE SYNDROME [(FII) aka MUNCHAUSEN’S SYNDROME BY PROXY] ‘It isn’t that they can’t see the solution. It is that they can’t see the problem.’ GK Chesterton “MARS AND VENUS” by SANDRO BOTTICELLI circa 1500 Next Instalment August 4 2068 : EDS My Second 50 Years! Watch this space Thank you!.
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