EDS – my first 50 years!

Rodney GrahameHonorary Professor UCL Unit for

Rheumatology & Connective Tissue Disease, University College London and the

London International Hypermobility Clinic

“MARS AND VENUS” by SANDRO BOTTICELLI circa 1500

Spot the signs of EDS. More about this later…

In the beginning…There were two diseases:

one for rheumatologists – JHSone for geneticists – EDS III

who rarely talked to one another!

HMS 1967 (KIRK, ANSELL &

BYWATERS)

EDS III 1968 (BEIGHTON)

7.9 miles

HAMMERSMITH HOSPITAL ST THOMAS’ HOSPITAL

HMS 1967

(KIRK et al)

RHEUMATOLOGY

EDS III 1968

(BEIGHTON)

GENETICS

ERIC BYWATERSVICTOR McKUSICK

“THE HYPERMOBILITY SYNDROME”

“Musculoskeletal symptoms in the

presence of generalised joint laxity

in otherwise normal subjects”.

“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 heredofamilial

connective tissue disease with the fully-developed

picture of MFS or EDS at the other [Brown, Rowatt &

Rose 1966].

HMS 1967

(KIRK et al)

RHEUMATOLOGISTS

JOINTS

OVERLAP WITH HDCTs

BRIGHTON (1998)

ANXIETY & PHOBIAS (Bulbena 1988-)

AUTONOMIC DYSFUNCTION

(Gazit 2003)

GASTROINTESTINAL DYSMOTILITY (Zarate 2010)

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)TINKLE et al 2009

‘INDISTINGUISHABLE FROM ONE ANOTHER’

Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers–Danlos syndrome and the joint hypermobility

syndrome (a.k.a. hypermobility syndrome).Am J Med Genet Part A 2009 149A:2368–2370.

• It is our collective opinion that 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.

• Clinically, 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.

• Furthermore, we recognize that 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 [Keer and Grahame, 2003].

There followed 40 years in the wilderness!

Changing Phenotype from 1967-2010

• We were seeing new co-morbidities appearing with bewildering frequency every 10 years.

• Difficulty in keeping pace with expanding phenotype.

• Handful of ‘EDS’ specialists.• Era of disbelief giving rise to denial and even

hostility emanating from colleagues in many specialties.

• Lack of treatment facilities.

MUSCULOSKELETAL PAIN/JOINT INSTABILITY

OVERLAP WITH HDCT/SKIN/HABITUS

UTERINE/RECTAL PROLAPSE

ANXIETY/PHOBIAS

DYSAUTONOMIAS

GI DYSMOTILITY

PROGRESSIVEDISABILITY

• 1967

• 1970

• 1980

• 1990

• 2000

• 2010

CHRONIC PAIN SYNDROME

MUSCULOSKELETAL PAIN/JOINT INSTABILITY

OVERLAP WITH HDCT/SKIN/HABITUS

UTERINE/RECTAL PROLAPSE

CHRONIC PAIN SYNDROME

DYSAUTONOMIAS

GI DYSMOTILITY

PROGRESSIVEDISABILITY

• 1967

• 1970

• 1980

• 1990

• 2000

• 2010

ANXIETY/PHOBIAS

CHIARI 1+

CRANIO-CERVICAL INSTABILITY

+TETHERED CORD

+LOW CSF PRESSURE

HEADACHE

2013MAST CELL ACTIVATION DISORDER

We wondered what was next…

Then something wonderful happened...

The Aims of Rehabilitation(After Anna Edwards-Fowler and Rosemary Keer)

developed from the 1980s• Reassurance, education 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.

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

Estimates of Misdiagnoses• 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.”

Unique in the history of medicine• 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 (comfort zone).• Most therapists not trained to treat it.• Epidemiologists have chosen to ignore it.• Research funding bodies rarely support it.• Patients better informed than their doctors.• Patients are left to their own devices.• No other disease is neglected in this way.

ADULT RHEUM

PAED RHEUM

PAEDS GENERAL

GASTRO

AUTONOMIC

CV-MED

URO- GYNAECOLOGY

NEURO-RADIOLOGY

NEUROSURGERY

PHYSIOTHERAPY

OCCUPATIONAL THERAPY

PODIATRY

PAIN PSYCHOLOGY

RHEUMATOLOGY NURSE

ORTHOPAEDICS OBSTETRICS PLASTIC SURG CARDIOLOGY NEUROLOGY SPORTS MED

PAIN MEDICINE ENDOCRINEetc.CLINICAL GENETICS

RESARCH TRAINING

Multi-Specialty Care

LEEDS

GLASGOW (RHEUMATOGY)

LEEDS (REHABILITATION)

BATH (RHEUMATOLOGY/REHABILITATION) – OPEN

LONDON (NEXT SLIDE)

GLASGOW

BATHLONDON

Closure of UK’s EDS Facilities

READAPTATION INTENSIVE/CHIRURGIE ORTOPEDIQUE

GENETIQUE SED- TYPES RARES

GASTROENTEROLOGIE –ADULTE & ENFANTS

KINESITHERAPIE -ENFANTS

DYSAUTONOMIEDOULEUR

Specialist Services for EDS

RHUMATOLOGIE;DOULEUR

MIS-DIAGNOSES

ADULTS CHILDREN

• FIBROMYALGIA• OSTEOARTHRITIS• SERONEGATIVE ARTHROPATHY• PSYCHOGENIC RHEUMATISM• DEPRESSION• CHRONIC FATIGUE SYNDROME

• CONGENITAL HYPOTONIA• LAZINESS• SCHOOL PHOBIA• DYSFUNCTIONAL FAMILY• FABRICATED OR INDUCED ILLNESS

[(FII) aka MUNCHAUSEN’S SYNDROME BY PROXY]

‘It isn’t that they can’t see the solution.It is that they can’t see the problem.’

GK Chesterton

“MARS AND VENUS” by SANDRO BOTTICELLI circa 1500

Watch this space

Next Instalment August 4 2068 : EDS My Second 50 Years!

Thank you!