professor rodney grahame

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
• 1980
• 1990
• 2000
MUSCULOSKELETAL PAIN/JOINT INSTABILITY
OVERLAP WITH HDCT/SKIN/HABITUS
UTERINE/RECTAL PROLAPSE
CHRONIC PAIN SYNDROME
ANXIETY/PHOBIAS
DYSAUTONOMIAS
GI DYSMOTILITY
• 2010
PROGRESSIVE
DISABILITY

HMS 1967
(KIRK et al)
RHEUMATOLOGY
EDS III 1968
(BEIGHTON)
GENETICS
ERIC BYWATERS
VICTOR McKUSICK

HMS 1967
(KIRK, ANSELL &
BYWATERS)
EDS III 1968
(BEIGHTON)
HAMMERSMITH HOSPITAL
ST THOMAS’ HOSPITAL
7.9 miles

THE 9-POINT
BEIGHTON
HYPERMOBILITY
SCALE

HMS 1967
(KIRK et al)
RHEUMATOLOGISTS
JOINTS
OVERLAP WITH HDCTs
BRIGHTON (1998)
ANXIETY & PHOBIAS
(Bulbena 1988-)
AUTONOMIC
DYSFUNCTION
(Gazit 2003)
GASTROINTESTINAL
DYSMOTILITY
(Zarate 2010)
TINKLE et al 2009
‘INDISTINGUISHABLE
FROM ONE ANOTHER’
EDS III 1968
(BEIGHTON)
GENETICISTS
GENETICS
HDCTs
BERLIN (1986)
VILLEFRANCHE (1997)
CHRONIC PAIN (Sacheti 1997)
AUTONOMIC DYSFUNCTION
(Rowe 1999)
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

Beighton score > 4/9 or
(currently/historically)
Arthralgia > 3 months in >4
joints
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
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

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

• 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
30
JHS+%
20
10
0
CAUCASIAN FEMALES [140]
NON-CAUCASIAN FEMALES [183]
NON-CAUCASIAN MALES [94]
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!