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1 RODNEY GRAHAME UNIVERSITY COLLEGE LONDON SCHOOL OF MEDICINE, U. WASHINGTON HMS 1967 EDS III 1968 (KIRK et al) (BEIGHTON) RHEUMATOLOGY GENETICS ERIC BYWATERS VICTOR McKUSICK HMS 1967 EDS III 1968 (KIRK et al) (BEIGHTON) RHEUMATOLOGISTS GENETICISTS JOINTS GENETICS OVERLAP WITH HDCTs HDCTs BRIGHTON (1998) BERLIN (1986) ANXIETY & PHOBIAS (Bulbena 1988-) VILLEFRANCHE (1997) CHRONIC PAIN (Sacheti 1997) AUTONOMIC DYSFUNCTION (Gazit 2003) GASTROINTESTINAL DYSMOTILITY (Zarate 2010) AUTONOMIC DYSFUNCTION (Rowe 1999) TINKLE et al 2009 INDISTINGUISHABLE FROM ONE ANOTHER GASTROINTESTINAL DISORDERS (Levy et al 1999) 1
2 EDNF 2012 Conference August MUSCULOSKELETAL PAIN/JOINT INSTABILITY MUSCULOSKELETAL PAIN/JOINT INSTABILITY OVERLAP WITH HDCT/SKIN/HABITUS UTERINE/RECTAL PROLAPSE CHRONIC PAIN SYNDROME ANXIETY/PHOBIAS DYSAUTONOMIAS GI DYSMOTILITY 2010 PROGRESSIVE DISABILITY RODNEY GRAHAME UNIVERSITY COLLEGE LONDON SCHOOL OF MEDICINE, U WASHINGTON All rights reserved. 2
3 INFLUENCE OF GENDER AND ETHNIC BACKGROUND ON CLINIC PREVALENCE OF JHS PHENOTYPE JHS+% NON-CAUCASIAN FEMALES [183] NON-CAUCASIAN MALES [94] CAUCASIAN FEMALES [140] CAUCASIAN MALES [89] Meaningless cluster of symptoms and signs? Not sure - but helps to give patients a label? This is an important condition where one should remain vigilant for other comorbidities? A multi-system heritable disorder of connective tissue, equivalent to the Ehlers-Danlos syndrome - hypermobility type (formerly EDS III), a cause of chronic pain; dysautonomia, GI dysmotility and progressive disability? N.R. 1% 3% 32% 28% 38% SAME 9% D.K. 46% DIFFERENT 44% GRAHAME R, BIRD HA: SURVEY OF 319 BRITISH CONSULTANT RHEUMATOLOGISTS. ANN RHEUM DIS 2001; 40:
4 1. 2. Yes No Before % 56% 3% 32% 28% 38% After % 21% 38% 30% Key Meaningless cluster of symptoms and signs? Not sure - but helps to give patients a label? This is an important condition where one should remain vigilant for other comorbidities? A multi-system heritable disorder of connective tissue, equivalent to the Ehlers-Danlos syndrome - hypermobility type (formerly EDS III), a cause of chronic pain; dysautonomia, GI dysmotility and progressive disability? Before 1. Yes 2. No 44% 56% After 1. Yes 2. No 43% 57% 4
5 EDNF 2012 Conference August 2012 CLINICAL FEATURES OF JHS JOINT SOFT TISSUE SPINE EXTRA- ARTICULAR HIP DYSPLASIA LIGAMENT/MUSCLE/ LOOSE-BACK STRETCHY SKIN LATE WALKING MENISCUS TEAR SYNDROME THIN SCAR S GROWING PAINS EPICONDYLYTIS DISC PROLAPS HERNIA ARTHRALGIA/ MYA LGIA TENDONITIS/ PARS DEFECTS VARICOSE VEINS CAPSULITIS FRACTURES DISLOCATION/ TENOSYNOVITIS SPONDYLOLYSIS U TERINE/RECTAL SUBLUXATION ENTRAPMENT NEUROPATHY OLISTHESIS PROLAPSE JOINT SYNOVITIS SPINAL ANOMALIES G.I. DYSMOTILITY CHONDROMALACIA BAKER S CYST SPINAL STENOSIS CHRONIC PAIN PATELLAE S.I. JT INSTABILITY SYNDROME DEPRESSION/ OSTEOARTHRITIS FIBROMYALGIA DYSAUTONOMIA ANXIETY SUDDEN INJURY OR OVERUSE INJURY SEVERE PAIN SELF-LIMITED RESPONDS TO HEAT/COLD REST ANALGESICS NOT INJURY RELATED NOT DEGREE OF H/M-RELATED GRADUAL BUILD-UP DISTRUBUTION NON- ANATOMICAL MORE DIFFUSE ASSOCIATED WITH FATIGUE DEPRESSSION DIMINISHED QOL UN-RESPONSIVE TO ANALGESICS TAKES THE EDGE OF THE PAIN! All rights reserved. 5
6 EDNF 2012 Conference August 2012 PAIN IS AMPLIFIED IS DISPROPORTIONATE MISLEADING FEAR OF MOVEMENT ( KINESIOPHOBIA ) AVOIDANCE OF MOVEMENT LOSS OF MUSCLE FUNCTION MORE INSTABILITY RISK OF MORE INJURY DOCTORS CAN T FIGURE IT OUT THEY DON T GET SO THEY DON T BUY IT! ASSUMED THAT IT IS PSYCHOGENIC. BAD MEDICINE! All rights reserved. 6
7 EDNF 2012 Conference August 2012 FROM NONE TO OVERWHELMING FROM ONE PERSON TO ANOTHER FROM ONE PERIOD OF LIFE TO ANOTHER CHILDHOOD ADOLESCENCE ADOLESCENCE ADULTHOOD ADULTHOOD - OLD AGE LIFE-STYLE ú WORK ú SPORT WEIGHT GAIN INJURY ú RTA [EGG-SHELL SKULL PRINCIPLE] Between 40-50% of patients attending the INPUT pain unit were found to have past or present evidence of joint hypermobility! 51 EDS pts; 32 f; mean age 34 (9-70) 6 <20 structured interview min age, gender, EDS type, onset, progression chronic pain (0-10); quality impact: physical, sex, social, job pain control strategies: medication, physical therapy, orthotics, etc.. All rights reserved. 7
8 EDNF 2012 Conference August /51 (90%) chronic pain > 6 months Mean number of painful sites Mean intensity of pain Progressive pain 43/51 (84%) Distribution of pain: Shoulder 41 Knees 36 Hands 38 Spine 34 Elbow: 22 Frequent headaches 1/2 Intermittent abdominal pain 1/3 40/45 adults symptoms began in childhood or adolescence Sleep disturbance 70% Impaired physical activity 70% Impaired sexual function 45% In conclusion: EDS patients - frequent & severe lifetime pain unrecognised in medical literature pain management protocol needed EDS should always be considered in the D/D of chronic musculoskeletal pain All rights reserved. 8
9 EDNF 2012 Conference August 2012 Comparing functional impairment, psychological impact in EDS-HT, FMS & RA Clinically relevant health-related dysfunction in all three groups. EDS-HT associated with a consistent burden of disease similar comparable with FMS and > RA Need for development of adequate multidisciplinary management, focussing on chronic pain. NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING CHRONIC PAIN SYNDROME All rights reserved. 9
10 EDNF 2012 Conference August 2012 NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING UNACCUSTOMED PHYSICAL EXERCISE CHRONIC PAIN SYNDROME NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING INJURY RTA WHIPLASH CHRONIC PAIN SYNDROME NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING UNACCUSTOMED PHYSICAL EXERCISE INJURY RTA WHIPLASH INEFFECITIVE ANALGESICS; PHYSICAL THERAPY INADEQUATE OR INAPPROPRIATE CHRONIC PAIN SYNDROME All rights reserved. 10
11 EDNF 2012 Conference August 2012 NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING UNACCUSTOMED PHYSICAL EXERCISE INJURY RTA WHIPLASH INEFFECITIVE ANALGESICS; PHYSICAL THERAPY INADEQUATE OR INAPPROPRIATE KINESIOPHOBIA MUSCLE DECONDITIONING FUNCTIONAL IMPAIRMENT PHYSICAL DISABILITY DEPENDENCY CHAIR/ BED-BOUND CHRONIC PAIN SYNDROME NON-INFLAMMATORY JOINT/ SPINAL PAIN; RECURRENT DISLOCATIONS; TRAUMATIC SOFT TISSUE LESIONS SLOW/ INCOMLETE HEALING UNACCUSTOMED PHYSICAL EXERCISE INJURY RTA WHIPLASH INEFFECITIVE ANALGESICS; PHYSICAL THERAPY INADEQUATE OR INAPPROPRIATE KINESIOPHOBIA MUSCLE DECONDITIONING FUNCTIONAL IMPAIRMENT PHYSICAL DISABILITY DEPENDENCY CHAIR/ BED-BOUND REDUCED QUALITY OF LIFE LACK OF SELF-EFFICACY WORK INCAPACITY SOCIAL ISOLATION DESPAIR CHRONIC PAIN SYNDROME MUSCULOSKELETAL TISSUE LAXITY NON-INFLAMMATORY JOINT/SPINAL PAIN; DISLOCATIONS/SUBLUXATIONS LIGAMENT, MUSCLE, TENDON, ENTHESIS INJURY/OVERUSE, FLAT FEET PELVIC FLOOR; HERNIAE; VARICOSE VEINS NON-ARTICULAR PAIN AMPLIFICATION; KINESIPHOBIA ; DECONDITIONING WIDESPREAD CHRONIC PAIN [ FIBROMYALGIA ] FATIGUE ORTHOSTATIC INTOLERANCE; POSTURAL TACHYCARDIA (PoTS). PSYCHOSOCIAL SEQUELLAE ANXIETY/DEPRESSION; OBESITY; WORK INCAPACITY; ISOLATION; DESPAIR All rights reserved. 11
12 EDNF 2012 Conference August 2012 q q q q q q q q q q q SEVERELY PHYSICALLY DISABLED MSK SYSTEM LARGELY INTACT! CHRONIC PAIN KINESIOPHOBIA PAIN MOSTLY UNRESPONSIVE TO ANALGESICS INCL OPIATES MEDICAL: AUTONOMIC; GI; GYNAE etc. MOSTLY YOUNG, HIGHLY MOTIVATED CUT DOWN IN THEIR PRIME OFTEN TOLD ALL IN THE MIND FEEL DISPIRITED, ABANDONED, ANGRY, DESPARATE NEED INTENSIVE PHYSICAL REHABILITATION + PAIN MANAGEMENT (CBT) EDS-DEDICATED PROGRAMS NOW AVAILABLE AT UCH & RNOH CBT pain management programs to help people manage their pain and reduce its effects on their lives. Understand chronic pain & EDS Reduce pain related distress, especially fear Reduce avoidance and engage in activity Manage increases in pain Greater independence in health care Aim is to change the relationship to the pain, not a pain cure. 8 days over 6 weeks (a total of 42 hours) Groups of 9-10 patients with EDS + chronic pain Team; 2 clinical psychologists, 1 physiotherapist, 1 nurse and 2 rheumatologists Outcomes assessed using standard questionnaires Baseline and one month follow-up The outcome slides shows the date of 87 patients (82 female : 5 male) Diagnosed with EDS (JHS) by specialist rheumatologists according to the Brighton Criteria Assessed by clinical psychology & physiotherapy All rights reserved. 12
13 EDNF 2012 Conference August 2012 Outcome Outcome Measure N Baseline Mean (SD) Follow-up Mean (SD) % Change p -value from baseline Self-efficacy Pain Self Efficacy (11.8) 32.2 (12.7) 27.4 < Questionnaire Pain Pain Catastrophising (12.5) (11.3) 31.8 < catastrophising Scale Depression Depression, Anxiety & (5.0) (4.9) 15.2 < Positive Outlook Scale Anxiety Depression, Anxiety & (3.8) 6.59 (3.3) 15.1 < Positive Outlook Scale Frustration NRS (1.8) 5.68 (2.3) 28.1 < Interference with Brief Pain Inventory (2.1) 5.10 (2.5) 20.9 < daily activities Pain intensity Brief Pain Inventory (1.5) 5.59 (1.9) 13.9 < The frequency of GP visits reduced significantly: Wilcoxon signed ranks test Z=-2.88, p< ADULTS FIBROMYALGIA OSTEOARTHRITIS SERONEGATIVE ARTHROPATHY PSYCHOGENIC RHEUMATISM DEPRESSION CHRONIC FATIGUE SYNDROME CHILDREN CONGENITAL HYPOTONIA LAZINESS SCHOOL PHOBIA DYSFUNCTIONAL FAMILY FABRICATED OR INDUCED ILLNESS (FII) aka MUNCHAUSEN S SYNDROME BY PROXY] 1971 THE DANCERS CLINIC IN THE PERFOMING ARTS JOINT HYPERMOBILITY FACILITATES MOVEMENT FAVOURS SELECTION BUT IS A RISK FACTOR FOR INJURY All rights reserved. 13
14 EDNF 2012 Conference August Royal Ballet School students 53 Guy s Hospital student nurses Ballet students showed a significantly higher incidence of hypermobile joints including knee, elbow, wrist, which are not affected by training Ann Rheum Dis 39: , 1972 [INFERENCE: H/M A +VE SELECTION FACTOR IN RECRUITMENT INTO DANCE] A VULNERABLE SECTION OF SOCIETY IS SELECTED INTO A PROFESSION WITH THE MOST PUNISHING WORKLOAD IMAGINABLE? ANSWER A RECIPE FOR TROUBLE? [Journal of Rheumatology 2004; 31(1): ] Royal Ballet School (lower 86; upper 64; controls 36) Royal Ballet Company (dancers 71; controls 31) JHS (Brighton criteria) highly prevalent (cf controls): Male as well as female Junior school as well as senior Professionals as well as students Corps de ballet > soloists > principals (0) Recurrent dislocations, Multiple soft tissue injuries, and a marfanoid habitus were features seen more often in dancers than controls Implications for selection/training in individuals with JHS. All rights reserved. 14
15 1% 3% 62% 9% 25% Musicians (233) Singers (10) Dancers (95) Acrobats (3) Actors (32) 100% 90% 80% 70% 60% 50% 40% 30% 20% 10% 0% Normal HM BJHS Dancers (95) Musicians (233) 15
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19 ANDY MURRAY ROGER FEDERER ROGER FEDERER 19
20 NEW YORK JETS Incidence of knee ligament rupture 139 American footballers N Y Jets 28/39 (72%) of loose-ligamented Cf 9/100 (9%) of tight-ligamented suffered from rupture requiring surgery CONCLUSION: By proper screening it may be possible to reduce disabling in loose players in contact sports and high velocity athletics! 20
21 SYLVIE GUILLEM [IN PERFORMANCE] SYLVIE GUILLEM [RESTING IN THE WINGS] Now the ballerina who brought glamour, wit and brilliance to the Royal Ballet, is leaving to devote the rest of her career to modern dance. At 42, she has danced virtually every major role in the ballet repertory and her standards are too solicitously high for her to relish in repetitive performances, which would in time expose the inevitable, slow diminishing of her classical technique. Guillem says she has got much better at managing the chronic pain that is a daily fact of her dancing life. 21
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23 THANK YOU 23
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