EDS—A Rheumatologist's Perspective Over Four Decades

EDNF 2011 Conference 8/2/11

All rights reserved. 1

RODNEY GRAHAME CONSULTANT RHEUMATOLOGIST

UNIVERSITY COLLEGE HOSPITAL LONDON HONORARY PROFESOR UNIVERSITY COLLEGE

LONDON AFFILIATE PROFESSOR , UNIVERSITY OF

WASHINGTON

“Musculoskeletal symptoms in the

presence of generalised joint laxity in otherwise

normal subjects”.



“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].



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?



QUESIONNAIRES ISSUED 420 RETURNED 315 RESPONSE RATE 75%

YES92%

NO7%

N.R1%



NO51%

NR10%

YES39%

YES10%

NO79%

N.R.11%



YES6%

NO84%

N.R.10%

SAME7%

DIFFERENT35%

D.K.57%

N.R.1%



SIGNIF50%

MINIMAL45%

SERIOUS1%

NR3%

NONE1%

SIGNIG24%

MINIMAL72%

NR3%

MAJOR0%NONE

1%



SIGNIG24%

MINIMAL72%

NR3%

MAJOR0%NONE

1%





ú  Beighton score > 4/9 or (currently/historically)

ú  Arthralgia > 3 months in >4 joints

ú  Beighton score of 1,2, 3/9 (0, if aged 50+)

ú  Arthralgia in 1-3 joints/ back pain/spondylosis/ spondylolysis/’olisthesis.

ú  Dislocation in >1 joint, or in 1 joint on >1 x

ú  > 3 soft tissue lesions ú  Marfanoid habitus ú  Skin: striae, thin,

stretchy, abnormal scarring.

ú  Eye signs: drooping eyelids or myopia

ú  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

¨  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-)).



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 BACKGROUND PRESENCE/ABSENCE OF THE JHS/EDS PHENOTYPE

ON THE CLINICAL PRESENTATION

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



Spinal DJDSoft TissueJoint painWCPOAInflam Jt DisMisc

Spinal DJDSoft TissueJoint painWCPOAInflam Jt DisMisc



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!

¨  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.



¨  PRESENTING COMPLAINTS ARE STRONGLY INFLUENCED BY: ¡  GENDER ¡  ETHNIC ORIGIN ¡  PRESENCE OF JHS PHENOTYPE

¨  PRESENTING COMPLAINTS ARE STRONGLY INFLUENCED BY: ¡  GENDER ¡  ETHNIC ORIGIN ¡  PRESENCE OF JHS PHENOTYPE



¨  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)

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?





¨  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?

¨  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!



NONE 3%

<1048% 11-25

35%

26-5010%

>502%

? 2%

¨  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!”

¨ England 49 million ¨ USA 311 million



¨ England 103,568 ¨ USA 657,340



¨  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.



¨  ‘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?

¨  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!



¨  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!



¨  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!



¨  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.



¨  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)

¨  IMPROVEMENT IN: ¡  PROPRIOCEPTION**** (deficit normalised) ¡  BALANCE**** ¡  MUSCLE STRENGTH*--*** ¡  QUALITY OF LIFE

ú  PHYSICAL FUNCTIONING [bodily pain*; role limitation***] ú  MENTAL HEALTH **

**** = P<0.001 *** = p< 0.003 ** p< 0.008 * = p< 0.039



¨  CONCLUSION:

“Appropriate exercises lead not only to symptomatic improvement, but also to demonstrable enhancement of objective parameters such as proprioception”.

¨  CONCLUSION:

“Appropriate exercises lead not only to symptomatic improvement, but also to demonstrable enhancement of objective parameters such as proprioception”.



IN MEMORY OF BARBARA GOLDENHERSH

Documents

EDS—A Rheumatologist's Perspective Over Four Decades