EDS – A RHEUMATOLOGIST’S PERSPECTIVE OVER FOUR DECADES
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EDS – A RHEUMATOLOGIST’S PERSPECTIVE OVER FOUR DECADES
RODNEY GRAHAMECONSULTANT RHEUMATOLOGIST
UNIVERSITY COLLEGE HOSPITAL LONDON HONORARY PROFESOR UNIVERSITY COLLEGE
LONDONAFFILIATE PROFESSOR , UNIVERSITY OF
WASHINGTON
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“THE HYPERMOBILITY SYNDROME”
“Musculoskeletal symptoms in the
presence of generalised joint
laxity in otherwise normal subjects”.
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“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 heredo-familial connective tissue disease with the fully-developed picture of MFS or EDS at the other [Brown, Rowatt & Rose 1966].
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QUESTIONS TO BE ADDRESSED
1. WHAT DO RHEUMATOLOGISTS REALLY THINK ABOUT HYPERMOBILITY SYNDROME?
2. HOW COMMON IS HYPERMOBILITY SYNDROME?3. HOW OFTEN IS IT MISSED?4. WHY IS IT SO FREQUENTLY MISSED?5. WHAT IS THE IMPACT OF MISSING THE
DIAGNOSIS?6. WHAT TREATMENT HAS BEEN SHOWN TO HELP?
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(1) WHAT DO RHEUMATOLOGISTS REALLY THINK ABOUT HMS?
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BSR MEMBERS’ HYPERMOBILITY SYNDROME PERCEPTION SURVEY 1999
[GRAHAME R, BIRD H. RHEUMATOLOGY 40 (5):559 -62 , 2001]
QUESIONNAIRES ISSUED 420RETURNED 315RESPONSE RATE 75%
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Do you believe in HMS as a distinct clinical entity?
YES92%
NO7%
N.R1%
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Do you believe in HMS as a distinct pathological entity?
NO51%
NR10%
YES39%
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Do you regard the presence of a +ve family history as necessary for a diagnosis of HMS?
YES10%
NO79%
N.R.11%
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Do you regard the presence of extraarticular features as necessary for a diagnosis of HMS?
YES6%
NO84%
N.R.10%
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In your opinion are HMS and Ehlers-Danlos type 3 (EDS III)?
SAME7%
DIFFERENT35%
D.K.57%
N.R.1%
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How do you rate the impact of HMS on peoples’ lives in most cases?
SIGNIF50%
MINIMAL45%
SERIOUS1%
NR3%
NONE1%
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What contribution does HMS make to the overall burden of rheumatic disease morbidity?
SIGNIG24%
MINIMAL72%
NR3%
MAJOR0%NONE
1%
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What contribution does HMS make to the overall burden of rheumatic disease morbidity?
SIGNIG24%
MINIMAL72%
NR3%
MAJOR0%NONE
1%
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(2) HOW COMMON IS HMS?
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Revised “1998 Brighton” diagnostic criteria for the Benign Joint Hypermobility Syndrome
MAJOR CRITERIA MINOR CRITERIA
Beighton score > 4/9 or (currently/historically)
Arthralgia > 3 months in >4 joints
Beighton score of 1,2, 3/9 (0, if aged 50+)
Arthralgia in 1-3 joints/ back pain/spondylosis/ spondylolysis/’olisthesis.
Dislocation in >1 joint, or in 1 joint on >1 x
> 3 soft tissue lesions Marfanoid habitus Skin: striae, thin,
stretchy, abnormal scarring.
Eye signs: drooping eyelids or myopia
Varicose veins/hernia/ uterine/rectal prolapse
The BJHS is diagnosed with: 2 major criteria or 1 major and 2 minor criteria or 4 minor criteria. 2 minor + 1° degree relative.
BJHS is excluded by presence of Marfan or Ehlers-Danlos syndromes (other than the EDS Hypermobility type formerly EDS III) as defined by the Ghent 1996 and Villefranche 1998 criteria respectively
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Willesden Community Hospital 506 unselected consecutive new referrals
rheumatology clinic June 2003 – February 2005 grouped by
gender presence / absence of JHS (JHS+ / JHS-) [BRIGHTON] primary diagnosis race (Caucasian / non-Caucasian (Cauc+ / Cauc-)).
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AIMS OF THE STUDY
TO DETERMINE THE CLINIC PREVALENCE OF THE JHS/EDS PHENOTYPE IN A N. LONDON HOSPITAL BY APPLYING THE BRIGHTON CRITERIA
TO INVESTIGATE THE INFLUENCE OF:GENDER ETHNIC BACKGROUNDPRESENCE/ABSENCE OF THE JHS/EDS PHENOTYPE
ON THE CLINICAL PRESENTATION
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0
10
20
30
40
50
60
70
% JHS
CAUCASIAN MALES [89]
CAUCASIAN FEMALES [140]
NON-CAUCASIAN MALES [94]
NON-CAUCASIAN FEMALES [183]
INFLUENCE OF GENDER AND ETHNIC BACKGROUND ON CLINIC PREVALENCE OF JHS PHENOTYPE
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PRESENTING LESION BY JHS/EDS STATUS – NON-CAUCASIAN FEMALES [69]
Spinal DJDSoft TissueJoint painWCPOAInflam Jt DisMisc
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PRESENTING LESION BY JHS/EDS STATUS+ NON-CAUCASIAN FEMALES [114]
Spinal DJDSoft TissueJoint painWCPOAInflam Jt DisMisc
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PRESENCE OF JHS/EDS PHENOTYPE IS ASSOCIATED WITH:
IN CAUCASIAN FEMALES:
MORE JT PAIN (x3); MORE SPINAL PAIN (x2) LESS INFLAM JT DIS (x1/4); SOFT TISSUE (x1/2)
IN CAUCASIAN MALES:
MORE JT PAIN (x3); MORE SPINAL PAIN (x2) LESS OA (x1/2); NO INFLAM JT DIS!
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CONCLUSIONS (1)
JHS IS A COMMON, LARGELY UNRECOGNISED HDCT
1ST STUDY OF CLINIC PREVALENCE OF JHS IN UNSELECTED RHEUMATOLOGY OUTPATIENTS
UNEXPECTEDLY HIGH PREVALENCE OF JHS PREVALENCE STRONGLY INFLUENCED BY
GENDER AND ETHNICITY.
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CONCLUSIONS (2) PRESENTING COMPLAINTS ARE STRONGLY
INFLUENCED BY: GENDER ETHNIC ORIGIN PRESENCE OF JHS PHENOTYPE
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CONCLUSIONS (2) PRESENTING COMPLAINTS ARE STRONGLY
INFLUENCED BY: GENDER ETHNIC ORIGIN PRESENCE OF JHS PHENOTYPE
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JHS PHENOTYPE IS ASSOCIATED WITH:
MORE NON-INFLAMMATORY JOINT PAIN MORE NON-INFLAMMATORY SPINAL PAIN MUCH LESS INFLAMMATORY JOINT DISEASE LESS OA MORE WIDESPREAD CHRONIC PAIN
(female/non-Caucasian only)
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QUESTIONS
1. DOES THIS STUDY ESTABLISH JHS AS THE MOST COMMON RHEUMATIC DISORDER?
2. DOES JHS PROTECT AGAINST INFLAMMATORY JOINT DISEASE?
3. SHOULD THE BRIGHTON CRITERIA BE ROUTINELY APPLIED TO ALL PATIENTS WITH MSK Sx?
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(3) HOW OFTEN IS HMS MISSED?
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The prevalence of the JHS in clinical practice is unknown.
But how common is JHS? How often does it appear in
rheumatology clinics? How often is the diagnosis being missed? What diagnostic labels are being applied
to these patients? Does it matter?
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EXTRAPOLATIONS In 2002/3 there were 266,264 1st hospital OP
rheumatology attendances in England. If 41% have JHS/EDSHM phenotype There are 109,168 NEW JHS patients
attending clinics annually! There are 536 consultants in England! Each consultant is seeing 224 JHS pts p.a! This is equivalent to 4 per week!
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Approx how many HMS cases have you seen in the past year?
NONE 3%
<1048% 11-25
35%
26-5010%
>502%
? 2%
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ESTIMATES OF MISSED CASES
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!
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ESTIMATES OF MISSED CASES
“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!”
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POPULATION STATISTICS
England 49 million
USA 311 million
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ESTIMATES OF NEW CASES MISSED ANNUALLY!
England 103,568
USA 657,340
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(4) WHY IS IT SO FREQUENTLY MISSED?
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WHY IS IT SO FREQUENTLY MISSEDBY RHEUMATOLOGISTS?
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LACK OF AWARENESS IN JHS OF: PHENOTYPIC FEATURES IMPACT ON PEOPLES’ LIVES UNFAVOURABLE PROGNOSIS IF UNTREATED SEEN AS A PURELY JOINT (NOT A CONNECTIVE
TISSUE) DISORDER IN ‘NORMAL’ PEOPLE (LEGACY OF 1967!). NOT SURPRISING THAT IT IS MOSTLY
MISDIAGNOSED AS: FIBROMYALGIA CFS SOMATISATION etc.
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UNWILLINGNESS TO COMMIT TO A PRECISE GENETIC DIAGNOSIS
‘HYPERMOBILITY IS NOT A DIAGNOSIS!’ H/M OBSERVED, BUT THEN DISREGARDED! EXCESSIVE FOCUS HAS BEEN ON
FIBROMALGIA! NOT FAMILIAR WITH RECENT LITERATURE! UNEASY WITH DIAGNOSIS OF EDS! FAULT IN TRAINING & CONTINUING MEDICAL
EDUCATION?
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Unique in the annals of medicine! High prevalence! Familial aggregation. Clinically easily recognised if sought! Affects all ages from the cradle to the grave! No costly imaging or genetic testing! Principles of management have been laid
down Major cause of preventable disability and
psychological distress!
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Unique in the annals of medicine! BUT: 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! Most therapists are at a loss as to how to treat it! Epidemiologists have chosen to ignore it! Research Funding bodies rarely support it! Social Welfare does not recognise it! Patients are left to their own devices! No other disease is mis-treated in this way!
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WHAT IS THE IMPACT OF MISSING THE DIAGNOSIS?
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The New Rheumatological Disability!
SEVERELY PHYSICALLY DISABLED MSK SYSTEM LARGELY INTACT! CHRONIC PAIN – ‘KINESIPHOBIA’ MEDICAL: AUTONOMIC; GI; GYNAE etc. MOSTLY YOUNG, HIGHLY MOTIVATED CUT DOWN IN THEIR PRIME OFTEN TOLD THAT IT IS ‘ALL IN THE MIND’ FEEL DISPIRITED, ABANDONED, ANGRY NO NATIONAL CENTRE FOR CARE!
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WHAT TREATMENT HAS BEEN SHOWN TO HELP?
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The Aims of Rehabilitation(After Anna Edwards-Fowler and Rosemary Keer)
education reassurance, 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.
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AMELIORATION OF SYMPTOMS BY ENHANCEMENT OF PROPRIOCEPTION IN
PATIENTS WITH JHS (1)FERRELL WR et al Arthritis & Rheumatism 2004; 50 (10): 3323-8
20 patients Glasgow HM clinic with JHS [Brighton criteria] Measurements:
Knee proprioception Balance Muscle strength Q.O.L. (SF36 Questionnaire)
8-week home-based programme of closed kinetic chain exercises Squat, plié, bridging, side lunge, front lunge, static hamstring safer, more specific, more functional, less strain on knee ligaments, facilitate joint proprioceptors (↑intra-articular pressure), ↑ muscle
strength. Balance board exercises (later) Exercise diary (self-reported compliance)
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AMELIORATION OF SYMPTOMS BY ENHANCEMENT OF PROPRIOCEPTION IN
PATIENTS WITH JHS (2)FERRELL WR et al Arthritis & Rheumatism 2004; 50 (10): 3323-8
IMPROVEMENT IN: PROPRIOCEPTION**** (deficit normalised) BALANCE**** MUSCLE STRENGTH*--*** QUALITY OF LIFE
PHYSICAL FUNCTIONING [bodily pain*; role limitation***]
MENTAL HEALTH **
**** = P<0.001 *** = p< 0.003 ** p< 0.008 * = p< 0.039
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AMELIORATION OF SYMPTOMS BY ENHANCEMENT OF PROPRIOCEPTION IN
PATIENTS WITH JHS (3)FERRELL WR et al Arthritis & Rheumatism 2004; 50 (10): 3323-8
CONCLUSION:
“Appropriate exercises lead not only to symptomatic improvement, but also to demonstrable enhancement of objective parameters such as proprioception”.
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AMELIORATION OF SYMPTOMS BY ENHANCEMENT OF PROPRIOCEPTION IN
PATIENTS WITH JHS (3)FERRELL WR et al Arthritis & Rheumatism 2004; 50 (10): 3323-8
CONCLUSION:
“Appropriate exercises lead not only to symptomatic improvement, but also to demonstrable enhancement of objective parameters such as proprioception”.
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IN MEMORY OF BARBARA GOLDENHERSH