OPPOSER: PROFESSOR RODNEY GRAHAME DEPARTMENT OF MEDICINE, UNIVERSITY COLLEGE LONDON SCHOOL OF MEDICINE, UNIVERSITY OF WASHINGTON, SEATTLE,WA

OPPOSER: PROFESSOR RODNEY GRAHAME DEPARTMENT OF MEDICINE, UNIVERSITY COLLEGE LONDON SCHOOL OF MEDICINE, UNIVERSITY OF WASHINGTON, SEATTLE ,WA 1967 ...
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OPPOSER: PROFESSOR RODNEY GRAHAME DEPARTMENT OF MEDICINE, UNIVERSITY COLLEGE LONDON SCHOOL OF MEDICINE, UNIVERSITY OF WASHINGTON, SEATTLE ,WA

1967

MUSCULOSKELETAL PAIN/JOINT INSTABILITY

“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 heredofamilial connective tissue disease with the fully-developed picture of MFS or EDS at the other [Brown, Rowatt & Rose 1966]”

MUSCULOSKELETAL PAIN/JOINT INSTABILITY OVERLAP WITH HDCT/SKIN/HABITUS UTERINE/RECTAL PROLAPSE CHRONIC PAIN SYNDROME ANXIETY/PHOBIAS DYSAUTONOMIAS GI DYSMOTILITY PROGRESSIVE DISABILITY

• •

1967 1970

MUSCULOSKELETAL PAIN/JOINT INSTABILITY OVERLAP WITH HDCT/SKIN/HABITUS UTERINE/RECTAL PROLAPSE

• • •

1980 1990 2000

CHRONIC PAIN SYNDROME ANXIETY/PHOBIAS DYSAUTONOMIAS GI DYSMOTILITY



2010

PROGRESSIVE DISABILITY

HMS 1967 (KIRK et al) RHEUMATOLOGY

ERIC BYWATERS

EDS III 1968 (BEIGHTON) GENETICS

VICTOR McKUSICK

HMS 1967

EDS III 1968

(KIRK, ANSELL & BYWATERS)

(BEIGHTON)

HAMMERSMITH HOSPITAL

ST THOMAS’ HOSPITAL 7.9 miles

THE 9-POINT BEIGHTON HYPERMOBILITY SCALE

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)







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. 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. 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.

JOINT HYPERMOBILITY SYNDROME PHENOTYPE HYPERMOBILITY: BEIGHTON SCORE >4 BEIGHTON SCORE 4/9 or

(currently/historically)  Arthralgia > 3 months in >4 joints

 Beighton score of 1,2, 3/9 (0, if 

 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

    

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





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DEFINING THE PHENOTYPE SELECTING PATIENTS FOR CLINICAL STUDIES EPIDEMIOLOGY OF JHS CLINICAL DIAGNOSIS



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506 unselected consecutive new referrals rheumatology clinic June 2003 – February 2005 Subjected to Brighton Criteria 45% Brighton +ve overall. Range 20-62% according to gender and ethnicity Presence/absence of JHS phenotype influenced presenting symptom. Inflammatory joint disease was under-represented in those who were Brighton +ve.

INFLUENCE OF GENDER AND ETHNIC BACKGROUND ON CLINIC PREVALENCE OF JHS PHENOTYPE 70 60 50 40 JHS+% 30 20 10 0

NON-CAUCASIAN FEMALES [183] NON-CAUCASIAN MALES [94] CAUCASIAN FEMALES [140] CAUCASIAN MALES [89]

 

      



** *

266,264 new rheumatology referrals in England(**) If 45% have JHS/EDSHM phenotype 119,809 new JHS patients attending clinics p.a. 536 consultants in England! Each consultant should be seeing 224 new JHS p.a. Equivalent to 4.3/week! BSR members, when asked assert it is 10 p.a. (*) Equivalent to 94.52% shortfall! Only 4.67% are being recognised! Equivalent to > 100,000 cases annually DOH statistics BSR members ‘ hypermobility syndrome perceptions survey, 1999 [Grahame R, Bird H. Rheumatology 40 (5):559 -62 , 2001]

ADULTS   



 

FIBROMYALGIA OSTEOARTHRITIS SERONEGATIVE ARTHROPATHY PSYCHOGENIC RHEUMATISM DEPRESSION CHRONIC FATIGUE SYNDROME



  





CHILDREN CONGENITAL HYPOTONIA LAZINESS SCHOOL PHOBIA DYSFUNCTIONAL FAMILY NON-ACCIDENTAL INJURY MUNCHAUSEN’S BY PROXY



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

      

  

JHS IS A COMMON HDCT WITH OVERLAP FEATURES SYMPTOMS TEND TO PROGRESS OVER TIME HYPERMOBILITY IS NOT ALWAYS GENERALISED A BEIGHTON SCORE OF > 4/9 IS NOT ESSENTIAL JHS IS NOT PURELY AN ARTICULAR PROBLEM CLASSIFICATION BY BRIGHTON CRITERIA (JHS PHENOTYPE) GI SYMPTOMS; CHRONIC PAIN, FATIGUE & DYSAUTONOMIA ARE COMMON JHS IS TREATABLE AND DEMANDS IT JHS SIGNIFICANTLY IMPAIRS QUALITY OF LIFE JHS CONTRIBUTES SIGNIFICANTLY TO THE OVERALL BURDEN OF RHEUMATIC DISEASE.

  

       

SEVERELY PHYSICALLY DISABLED MSK SYSTEM LARGELY INTACT! CHRONIC PAIN – ‘KINESIOPHOBIA’ PAIN LARGELY UNRESPONSIVE TO ANALGESICS (EVEN 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 (even SUICIDAL!) NEED INTENSIVE PHYSICAL REHABILITATION + PAIN MANAGEMENT (CBT) EDS-DEDICATED PROGRAMMES NOW AVAILABLE AT RNOH

If anything, it is under-medicalised!

I REST MY CASE!

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