Understanding & managing syndromic joint hypermobility in adults

Prof Shea PalmerDr Caroline AlexanderSarah BennettDr Jane Simmonds

Objectives1. Identify the epidemiology, aetiology and clinical criteria for hypermobile

Ehlers-Danlos Syndrome (hEDS) & Hypermobility Spectrum Disorders (HSD)

2. Recognise the impact of hEDS/HSD – impairment, activity limitations and participation restrictions

3. Appreciate the principles of physiotherapy and multidisciplinary management

Format• Introduction [10min] - Shea Palmer (UWE, Bristol)

• Biomechanical & functional impact [15min] - Caroline Alexander (Imperial College Healthcare NHS Trust; Imperial College London)

• Psychosocial impact [15min] - Sarah Bennett (UWE, Bristol)

• Physiotherapy & multidisciplinary management [20min] –Jane Simmonds (University College London; University College London Hospitals; Wellington Hospital)

• Q&A [20min]

• Summary [10min]

What is syndromic joint hypermobility?

Syndromic joint hypermobility• Asymptomatic Generalised Joint Hypermobility (GJH) is prevalent and

normal

• Previous terms ‘Joint Hypermobility Syndrome (JHS)’ or ‘Ehlers-Danlos Syndrome - Hypermobility Type (EDS-HT)’

• New diagnostic terms are ‘hypermobile EDS (hEDS)’ (Malfait et al 2017)

and ‘Hypermobility Spectrum Disorders (HSD)’ (Castori et al 2017)

• hEDS is at the more symptomatic end of the spectrum

• hEDS/HSD are heritable connective tissue disorders

hEDS HSDs Asymptomatic GJH

Syndromic joint hypermobility• hEDS/HSD are complex multi systemic conditions:

o Joint laxity and pain

o Fatigue, proprioception and strength deficits

o Dislocation, repeated cycles of injury

o Poor healing, easy bruising

o Autonomic, cardiovascular and gastrointestinal symptoms

o Psychosocial sequelae

• Increasingly recognised cause of otherwise unexplained musculoskeletal problems

• Physiotherapy is mainstay of treatment

Prevalence• Difficult to estimate due to:

o Different diagnostic criteria/cut-offs

o Generalised Joint Hypermobility (GJH) v. hEDS/HSD

• GJH more common in children, females and some ethnic groups (e.g. Asian,

African and Middle Eastern populations)

• All EDS sub-types est. 1/2,500-1/5,000 (0.02-0.04%) (www.rarediseases.org)

• Est. 7.5-20/1,000 (0.75-2%) for ‘symptomatic GJH’ (Hakim & Sahota, 2006)

• 3.4% ‘joint hypermobility and widespread pain’ (2 million people in UK) (Mulvey et al, 2013)

• EDS & HSD Global Registry (https://www.ehlers-danlos.com/eds-global-registry)

Prevalence• Clinical populations (using previous JHS Brighton criteria):

o 46% men, 31% women referred to rheumatology [UK] (Grahame & Hakim

2004)

o 55% women referred to physiotherapy [Oman] (Clark & Simmonds 2011)

o 30% referrals to a Musculoskeletal Triage Clinic [UK] (Connelly et al, 2015)

o 39.1% pain management, 37.0% rheumatology, 10.9% orthopaedic lower limb clinic referrals [UK] (To et al, 2017)

• So may not be ‘rare’ in clinical practice…

• Early diagnosis crucial to successful long-term management (Kalisch et al,

2019, Terry et al, 2015)

Ehlers-Danlos Syndrome• 13 EDS sub-types, most of which are rare – need specialist referral

• All but hEDS have an identified genetic basis

• hEDS most prevalent (80-90% of all EDS, Tinkle et al, 2017)

• Autosomal dominant inheritance

• Ongoing hEDS genetic evaluation study (HEDGE) https://www.ehlers-danlos.com/hedge

hEDS DiagnosisChecklist is available from:

https://www.ehlers-danlos.com/heds-diagnostic-checklist/

Royal College of General Practitioners EDS Toolkit:

https://www.rcgp.org.uk/clinical-and-research/resources/toolkits/ehlers-danlos-syndromes-toolkit.aspx

Generalised Joint Hypermobility

• Beighton score

• 5-point questionnaire

AND ≥2 of the following:

• Systemic manifestations

• Positive family history

• Musculoskeletal complications

AND all of the following:

• Absence of unusual skin frailty

• Exclusion of other CTDs

• Exclusion of alternative diagnoses with hypermobility

hEDS Diagnosis (adapted from Malfait et al, 2017)

Hypermobility Spectrum Disorders“… symptomatic JH but not satisfying the criteria/diagnosis for a syndrome, the term hypermobility spectrum disorder(s) (HSDs) is proposed” (Castori et al, 2017)

• Generalized HSD (G‐HSD): GJH objectively assessed (e.g. Beighton score) plus ≥1 secondary musculoskeletal manifestations.

• Peripheral HSD (P‐HSD): JH limited to hands and feet plus ≥1 secondary musculoskeletal manifestations.

• Localized HSD (L‐HSD): JH at single joints or group of joints plus ≥1 secondary musculoskeletal manifestations related to the hypermobile joint(s).

• Historical (joint) HSD (H‐HSD): self‐reported (historical) GJH (e.g. 5‐point questionnaire), negative Beighton score plus ≥1 secondary musculoskeletal manifestations.

Caroline Alexander

Biomechanical & other impairments

@CMarthaAlex

In this presentation:

• Kinematics and kinetics

• Tendon flexibility

• Balance and falls

• Proprioception

• Fatigue

• Strength

@CMarthaAlex

Kinematics and kinetics

• Gait

• Slower and smaller stride (Bates PhD 2017; Bates and Alexander 2015;Celletti et al. 2012;Galli et al.

2011;Rigoldi et al. 2012;Rombaut et al. 2011;Schmid et al. 2013).

• Greater variability of movement but no consistent difference in range

used (Bates and Alexander 2015;Celletti et al. 2012;Galli et al. 2011;Rigoldi et al. 2012;Rombaut et al. 2011;Schmid

et al. 2013).

• Lower power around hip, knee with greatest difference at the ankle (Bates PhD 2017).

• Stairs (Bates PhD 2017)

• Slower ascent and descent.

• In hip flexion but no differences in range used.

• Lower ankle power during ascent and lower knee power during

descent.

@CMarthaAlex

Tendon flexibility

• Tendons increased elasticity and reduced stiffness (Alsiri et al 2019)

@CMarthaAlex

Falls and Balance

• Fall more frequently (Rombaut et al. 2011)

• Altered balance (Bates et al. 2016 & 2017;Rombaut

et al. 2011).

@CMarthaAlex

Movement with perturbation

Bates, 2017@CMarthaAlex

Proprioception and motor control

• Alteration of muscle patterns of activity during

balance tasks and perturbations (Greenwood et al.,

2011; Bates 2017).

• Repositioning and mirroring movement (Rombault et al

2010; Mallik et al 1994)

• Reflex reactions (Ferrell et al 2004 & 2007; Jeremiah et al

2010; Long et al 2015)

@CMarthaAlex

Fatigue

• Their sense of fatigue can be overwhelming (Voermans et al. 2010;Voermans et al 2011) and can have a bigger impact than pain on daily function.

• Incidence not clearly established but has been reported to reach 86% (Rombaut et al. 2010;Voermans et al. 2010;Voermans et al. 2011a;Voermans et al. 2011b)

• Centrally fatigued > peripheral fatigue (To et al 2019)

@CMarthaAlex

Strength

• Weak (Sahin et al 2008; Rombaut et al 2012; Scheper et

al 2016; To et al 2019)

• Muscle mass similar to control (Rombaut et

al 2012)

• Rate of change of strength the same (To

et al 2019)

@CMarthaAlex

0

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0 2 4 6 8 10 12 14 16 18 20

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GJH

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0 2 4 6 8 10 12 14 16 18 20E

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Symptomatic

hypermobility

Weak

Proprioception

differs

Strengthen at

the same rate

Balance

problemsCentral

fatigue

Move

differently

Tendons

flexible

Proprioception

differs

Understanding the

psychosocial impact of

syndromic joint

hypermobility in adults

Sarah BennettThe University of the West of England, Bristol

Psychosocial:

The effect of psychological,

social and environmental

factors on individuals'

thoughts and behaviour

“

”

Significant associations between JHS/EDS-HT and psychological

distress

OR 4.93, 95% CI 1.92, 10.4,

P = 0.005

Anxiety

OR 6.72,

95% CI 2.22, 20.35

Panic Disorder

Fear(Bulbena et al.,1993; 2011; Gacia Campayo et al., 2010,

Gurer et al., 2010).

OR 4.10,

95% CI 1.79,9.41

Depression

Smith et al., (2014)

Fear perception, fear intensity, agoraphobia

(P < 0.05)(Bulbena et al.,1993; 2006;

Palihez et al., 2011 (Bulbena et al., 1993,

2011; Gurer et al., 2010).

(Bulbena et al., 1993; Martin-Santos et al.,1998; Gurer et al., 2010)

Attempted suicide

RR 2.1, 95% CI

1.7-2.7

Significant associations between JHS/EDS-HT and psychological

distress

RR 7.4, 95% CI

5.2-10.7

Autism Spectrum Disorder

RR 3.4, 95% CI 2.9-

4.1

Depression

Cederlöf et al., (2016)

Bipolar Disorder

RR 2.7, CI 1.5-4.7;

RR 5.6, CI 4.2-7.4

ADHD

Thematic Synthesis

Berglund et al., (2000)

Berglund et al., (2010)

Bovet et al., (2016)

DeBaetset al., (2017)

Palmer et al.,

(2016a)Palmer et

al., (2016b)

Schmidt et al., (2015)

Simmonds et al., (2017)

Terry et al., (2015)

Lack of professional

understanding

Restricted life

Trying to ‘keep up’

Gaining control

Social stigma

Thematic Synthesis

Understanding the psychosocial impact

• Semi-structured

telephone interviews

• Psychosocial impact of

JHS/EDS-HT (n=17,

13 women, 4 men).

[The doctor asked]: Can you bend

over, touch your toes?...Well, then

there can’t be too much wrong with

you.

Healthcare limitations

“

”[Tabitha, Interview 012]

[I] feel a nuisance sometimes…

I feel like a burden to [my wife]…

I’m restricting her

Restrictions imposed by

JHS/EDS-HT:

“

”[Daniel, Interview 003]

Going out with the lads… I just couldn’t

keep up, even just standing up to watch

the football I’d have to get a chair, nobody

sits down to watch football, you know?

Social stigma

[Nigel, Interview 005]

“

”

Reading some of the stuff on the internet …

it fills your head with fear… They’ve got to

be fed through a tube …I don’t want to end

up like that!’… Over-thinking things and

then you start panicking.

Fear of the unknown

“

”[David, Interview 003]

Do you know what? I’m weird, I’m bendy,

and I’m always going to be that way…

There’s something wrong with me

genetically… I just have to accept it.

Ways of coping

“

”[Frances, Interview 009]

I've learnt a different way of swimming… just using one arm, not the one that dislocates all the

time…it's getting back to something that I used to really

enjoy, just doing it slightly differently

Ways of coping:

“

” [Mandy, Interview 016]

Something one of the physio’s said to me was, ‘You can do anything

that you want to’, and like for me that really like ... Hit a bell…I can do anything, I just have to find my

way of doing it.

Ways of coping:

“

”[Emily, Interview 007]

Part 3: Potential Interventions

Systematic Review Results

Qualitative Interview

Results

Theoretical Domains Framework

COM-B (capability, Opportunity, Motivation)

Potential behaviour change interventions

[Michie et al., 2011, 2015]

What patients want: Education:• Coping strategies: pacing, pain and

injury.• How to evaluate information

about JHS/EDS-HT & reliable sources of information.

• How to navigate social support: PIP, DSA etc.

• Pacing skills,

• Communication skills,

• What to expect during pregnancy.

Training:

Photo credit: Jernej Graj, Unsplash

Environmental restructuring and enablement:

Photo credit: Onne, Unsplash

• Adaptations to the environment with OT input.

• “Small adjustments you can make to your life that just has such a positive [impact]” [Alex, Bristol FG]

Environmental restructuring and enablement:

Photo credit: Onne, Unsplash

• Access to emotional support, CBT, mindfulness, counseling & books.

Behaviourmodeling:

Photo credit: Dan Meyers, Unsplash

• Positive first-person modelling narratives that addressed how they coped with JHS/EDS-HT.

• JHS and EDS-HT have a serious psychosocial impact on participants lives.

• There is a lack of support in the UK and internationally.

• Future work is required to improveinformation provision, address psychological support needs and increase awareness of JHS/EDS-HT among healthcare professionals.

Final thoughts…

Thank You

Prof Shea Palmer,

Dr Caroline Alexander,

Sarah Bennett

Dr Jane Simmonds

Physiotherapy and Multidisciplinary Management of Hypermobility Spectrum Disorders and hypermobile Ehlers Danlos Syndrome

Dr Jane Simmonds MCSP MMACP MAPCPUCL Great Ormond Street Institute of Child HealthUCLH Hypermobility UnitLondon Hypermobility UnitTwitter: @jvsimmonds01

dizzy

Low mood

Feel sick

Allergies

Writing problems

clicking

BODY FUNCTION & STRUCTURE(IMPAIRMENTS)

HEALTH CONDITIONHypermobility Spectrum Disorders/hEDS

ACTIVITIES(LIMITATIONS)

PARTICIPATION(RESTRICTIONS)

PERSONAL FACTORSENVIRONMENTAL FACTORS

CONTEXTUAL FACTORS

International Classification of Functioning Disability and Health (ICF)

WHO 2002

Pain

Fatigue

Psychological

Gastrointestinal

Immunological

Urogenital

Dysautonomia

Neuromusculoskeletal

Spider: Symptom Severity ScaleSimmonds & de Wandele 2015

Pain

Fatigue

Psychological

Gastrointestinal

Immunological

Urogenital

Dysautonomia

Neuromusculoskeletal

Spider: Symptom Severity ScaleSimmonds & de Wandele 2015

Pain

Fatigue

Psychological

Gastrointestinal

Immunological

Urogenital

Dysautonomia

Neuromusculoskeletal

Spider: Symptom Severity ScaleSimmonds & de Wandele 2015

Use a bio-psychosocial approach

History - Listen

Look for contributing factors as well as signs, symptoms, and involved tissues

Explore expectations and work in partnership

Kalish et al, 2019; Simmonds et al, 2019; Bennett et al, 2019

Assessment

BODY FUNCTION & STRUCTURE

(IMPAIRMENTS)

Hypermobility: Beighton Scale, Lower Limb Assessment Scale, Upper Limb AssessmentPain: Visual Analogue, Numerical Rating ScaleFatigue: Fatigue Severity Scale, Checklist Individual StrengthStrength: Dynamometer, MRC scaleBalance: Single leg stance, Y BalanceDysautonomia/ PoTS: Compass 31Mood: Hospital Anxiety and Depression Scale

Hypermobility Spectrum Disorders/hEDS

ACTIVITIES(LIMITATIONS)

6 Minute Walk TestGet up and GoDASH HandwritingSODA test BatteryPatient Specific Functional ScaleGoal Attainment Scale

PARTICIPATION(RESTRICTIONS)

Bristol Impact of Hypermobility (BIOH)

SF 36EQ-5D-5L

Assessment and Outcome Measure Tools

Research Evidence

Clinical Assessment

Patient Values & Beliefs

Optimal Decision

Sacket 1988Evidence Based Practice

Management

Clinically reasoned, goal directed functional restoration programmes

• Education – joint protection, pain, fatigue, adaptations

• Splinting, orthotics

• Personalised graded exercise interventions (Faigenbaum 2009; Garber et al.,

2011; Smidt, 2013)

Empowering and HolisticPhysiotherapy

Multidisciplinary

Englelbert et al (2017)

Spectrum

SIMPLE/ACUTECOMPLEX

INTERMEDIATECOMPLEX/CHRONIC

Increased vulnerability of tissues to injury (Pacey 2010, Tobias 2013)

- repetitive activities (Acususo-Diaz et al 1993

- sustained postures (Larsson et al 1993, 1995)

SIMPLE/ EARLYEpisode of acute musculoskeletal injury, sprains,

subluxations, dislocation, minimal or no trauma

overuse, misuse

STRATIFIED MANAGEMENT

Engelbert et al 2017; Russek et al., 2019

SIMPLE/ EARLYEpisode of acute musculoskeletal injury, sprains,

subluxations, dislocation, minimal or no trauma

overuse, misuse

STRATIFIED MANAGEMENT

SIMPLE/ EARLYRest, Ice, Compression, Elevation

electrotherapy, tape, support, reassurance, exercise, time

education - prevention

COMPLEX/ INTERMEDIATECoordination problems

Recurrent episodes of pain and subluxations/ dislocations, series of episodes at different sites, sensitization, subluxation/dislocation, fatigue, fear, depression

Mild systemic features +/- PoTS, Gastro, uro & gynacology

SIMPLE/ EARLYEpisode of acute musculoskeletal injury, sprains,

subluxations, dislocation, minimal or no trauma

overuse, misuse*

Keer & Simmonds 2011; Scheper et al., 2017; Engelbert et al., 2017

STRATIFIED MANAGEMENT

SIMPLE/ EARLYRest, Ice, Compression, Elevation

electrotherapy, tape, support, reassurance, exercise, time

education - prevention

Meet Rayna 24 years

PC (Presenting case): Not coping, pain, fatigue, joint instability, deconditioned, dizzy,

headaches, fibromyalgia and chronic fatigue, anxiety, panic and low mood

PMHx: Hypermobility detected in early school years. Physiotherapists treated single areas

6-8 sessions. Physiotherapy sometimes helpful and sometimes painful depending on who

she saw. Never got on top of the problem.

I’m not coping. Don’t know what to do. I

need help

Kalish et al, 2019

IMPAIRMENTS ACTIVITY PARTICIPATION

PERSONAL FACTORS ENVIRONMENT

Meet Rayna 24 years

Walking limited by hip pain to 10 minutesTyping limitedStruggles with cooking and opening jars due to hands

Lives with boyfriend supportivePressurised work = long hours

FemaleHigh achieverLow confidence/ self esteemUsed to enjoy gym and pilates now fearful

Struggling at work as a designer. Taking time off due to headaches and fatigueUnable to go to gymStaying home most weekends

PC: Not coping, pain, fatigue, joint instability, deconditioned, dizzy, headaches

fibromyalgia and chronic fatigue, anxiety, panic and low mood

PMHx: Hypermobility detected in early school years. Physiotherapists treated single

areas 6-8 sessions.

Widespread hypermobility + shoulders, hips

Neck, back, knee, hip and hand pain –moves around

Recurrent shoulder subluxations, fingers and wrists collapse

Headaches 3-4 times per week

Fatigue – poor sleep

Syncope when standing (POTS) – worse with menstrual cycle

Fast heart rate - chest pain

Bloating and early satiety after eating

Low mood and anxious

I’m not managing and need some help

SIMPLE/ EARLYEpisode of acute musculoskeletal injury, sprains,

subluxations, dislocation, minimal or no trauma

overuse, misuse*

SIMPLE/ EARLYRest, Ice, Compression, Elevation

electrotherapy, tape, support, reassurance, exercise, timeeducation - prevention

Keer & Simmonds 2011; Scheper et al., 2017; Engelbert et al., 2017

STRATIFIED MANAGEMENT

COMPLEX/ INTERMEDIATECoordination problems

Recurrent episodes of pain and subluxations/ dislocations, series of episodes at different sites, sensitization, subluxation/dislocation, fatigue, fear, depression

Mild systemic features +/- PoTS, Gastro, uro & gynacology

COMPLEX/ INTERMEDIATEModified/ Adapted,

Holistic, Multidisciplinary team reassurance, education,

Cognitive approaches CBT, Motivational InterviewingFunctional restoration

Self management

Subjective Assessment

Listen carefullyUnrecognised

Poorly managed

Listen carefully…….

Explore expectations

Identify problems – prioritise

• Pain – local/ general/ acute/ chronic (sensitization)

• Joint instability – subluxations, dislocations, clicking

• Fatigue – sleep, fluid, diet

• Anxiety - Low mood/ depression

• Gastrointestinal dysmotility

• Dysautonomia – Postural Tachycardia Syndrome (POTS)

Explore impact

• Physical activity/ Sport/ Hobbies

• Home (self care, chores, dressing), Social, work (writing)

What matters most?

Subjective Assessment

Listen carefully…….

Explore expectations

Identify problems – prioritise

• Pain – local/ general/ acute/ chronic (sensitization)

• Joint instability – subluxations, dislocations, clicking

• Fatigue – sleep, fluid, diet

• Anxiety - Low mood/ depression

• Gastrointestinal dysmotility

• Dysautonomia – Postural Tachycardia Syndrome (POTS)

Explore impact

• Physical activity/ Sport/ Hobbies

• Home (self care, chores, dressing), Social, work (writing)

Pain

Fear of injury

Fatigue

Subjective Assessment

Listen carefully…….

Explore expectations

Identify problems – prioritise

• Pain – local/ general/ acute/ chronic (sensitization)

• Joint instability – subluxations, dislocations, clicking

• Fatigue – sleep, fluid, diet

• Anxiety - Low mood/ depression

• Gastrointestinal dysmotility

• Dysautonomia – Postural Tachycardia Syndrome (POTS)

Explore impact

• Physical activity/ Sport/ Hobbies

• Home (self care, chores, dressing), Social, work (writing)

Who else in the MDT needs to

be involved

Occupational Therapy

Podiatry

Psychology

Medical Team

Subjective Assessment

Listen carefully…….

Explore expectations

Identify problems – prioritise

• Pain – local/ general/ acute/ chronic (sensitization)

• Joint instability – subluxations, dislocations, clicking

• Fatigue – sleep, fluid, diet

• Anxiety - Low mood/ depression

• Gastrointestinal dysmotility

• Dysautonomia – Postural Tachycardia Syndrome (POTS)

Explore impact

• Physical activity/ Sport/ Hobbies

• Home (self care, chores, dressing), Social, work (writing)

Careful active and passive joint range and muscle length – search for trigger points

Functional assessment **

Observe dressing / undressing

Posture and gait – compensatory patterns

Sit to stand/ squat – gluteal, quadriceps

Single leg dip

Heel raise – tibialis posterior

Balance – Single leg / Star Excursion Balance test - Y Balance Test / Hop/ Jump

Strength/ activation (careful testing* - through range) ** functional – sit to stand

Grip strength – crude test

Test for POTS (standing test /refer on) – quiet standing test

Observe carefully

Objective Assessment

Hypersensitivity of cardiac sympathetic systemOrthostatic Hypotension Rapid drop in blood pressure

> 20/10 mmHg

Standing intolerance

Postural Orthostatic Tachycardia Syndrome (POTS)

Abnormal circulatory response to

moving from lying to standing

> 30 beats per minute - rise in pulse adults

> 40 beats per minute rise - children over 12

Cardiovascular Sympathetic Dysautonomia

POTS Symptoms

Near syncope on standing

Rapid colour changes

Palpitations - can cause massive anxiety

Excessive heart rate on exercise

Heat intolerance

Nausea, reflux and irritable bowel symptoms

Pain

Fatigue

Psychological

Gastrointestinal

Immunological

Urogenital

Dysautonomia

Neuromusculoskeletal

Symptom Severity ScaleSimmonds & de Wandele 2015

IMPAIRMENTS ACTIVITY PARTICIPATION

PERSONAL FACTORS ENVIRONMENT

Meet Rayna 24 years

Walking limited by hip pain to 10 minutesTyping limitedStruggles with cooking and opening jars due to hands

Lives with boyfriend supportivePressurised work = long hours

FemaleHigh achieverLow confidence/ self esteemUsed to enjoy gym and pilates now fearful

PC: Not coping, pain, fatigue, joint instability, deconditioned, dizzy and headaches

fibromyalgia and chronic fatigue, panic and anxiety and low mood

PMHx: Hypermobility detected in early school years. Physiotherapists treated single

areas – 6-8 sessions.

Struggling at work as a designer. Taking time off due to headaches and fatigueUnable to go to gymStaying home most weekends

This is complex!Where to start?

Widespread hypermobility + shoulders, hips

Neck, back, knee, hip and hand pain –moves around

Recurrent shoulder subluxations, fingers and wrists collapse

Headaches 3-4 times per week

Fatigue – poor sleep

Syncope when standing (POTS) – worse with menstrual cycle

Fast heart rate - chest pain

Bloating and early satiety after eating

Low mood and anxious

Give Hope

Diagnoses - Acceptance - Change -Take control of symptoms

Take control and manage

the symptoms

Diagnoses

AcceptanceChange

Pain

Fatigue

Psychological

Gastrointestinal

Immunological

Urogenital

Dysautonomia

NeuromusculoskeletalSleep hygiene, pacing, fluids, Vit D, Iron checks

Pain education, pacing, TENS, acupuncture, manual therapy

Fluid, SaltMedicationsMorning regime Graded cardiovascular / lower limb exercise

Dietary advice – Medications/low carbohydrates/ FODMAP

Psychology/ Counseling – CBT/ hypnosis, exercise

Contraceptive pill *Women’s health

AntihistaminesLow histamine diet

Graduated exercise motor/ strength/ splints/ manual therapy

Dislocation/ Subluxation Plan

Position the jointBreath – Relax DistractWait, Wait, WaitDo your usual thing…Ice, analgesiaSupport for a few daysPrevent

Dr Helen Cohen, RNOH

Tape/clothing

Provides support, reduces pain (Macgregor et al, 2005)

Facilitates better muscle activation/patterning (Christou, 2004)

Enhances proprioception, if poor (Callaghan et al 2002, 2008)

Improves dynamic postural control (Aminaka & Gribble, 2008)

Provides compression - aids venous return (POTS) (Grubb, 2008)

Exercise Core – Top Tips

Begin at a low level for baseline (To et al., 2017)

Often need to begin in gravity eliminated positions and/ or use isometrics/ closed chain exercises – inner

and mid range – progress to outer range and open chain

Progress at slow rate initially – consider motor learning / motor control

Use a brace, tape, mirrors videos if needed

Consider the whole person

Not just one joint at a time

Hands on to teach exercise (Simmonds et al., 2019)

Customise treatment based on the needs and goals (PSFS/ GAS)

Work together, give feedback, make it relevant and fun!

Ergonomic adviceFunctional splints

Schlepe et al., 2018

Manual Therapy (with care)

Joint mobilisations – stiff jointsMyofascial releaseTrigger point massageNeural mobilisations

Keer & Simmonds 2011, Russek et al 2019

Aim• Reduce sympathetic activity – breathing, mindfulness, hypnosis• Increase fluid volume, improve venous return and stroke volume• Good fluid balance (2-2.5 litres a day), increase salt intake• Leg crossing, squatting, pumping hands, pressure garments• Exercise (cardiovascular – lower limbs)

Avoid• Rapid postural change, standing/sitting too long, prolonged bed

heat, excessive straining, heat, alcohol, large carbohydrate meals

Drugs• Increase blood volume - fludrocortisone• Increase vasoconstriction – midodrine, etilefrine• Block effect of (nor)epinephrine – beta-blockers, ACE-1

Treatment of POTS

Fu et al, 2011; Mathias et al, 2011

Aquatic Rehabilitation

•Benefits of water immersion

•Buoyancy

•Turbulence

•Cardiorespiratory system•Hydrostatic pressure

• Increased blood volume into thoracic cavity

•Reduced heart rate

• Increased cardiac output

•Prudence

Simmonds et al, 2019

Physical Activity and Exercise

Online Pilates programme…research underway

Simmonds et al, 2019

COMPLEX LONG TERMChronic, longstanding, severe, unremitting pain with profound deconditioning/ comorbidities, disability

(Rombaut 2011; Scheper, 2016)

COMPLEX/ LONG TERMMulti disciplinary tertiary/ patient management

programme using cognitive behavioural approaches (Bathen et al, 2014)

University College London Hospital • Diagnosis• Information session• 12 week Hydrotherapy, Pilates and Gym• 8 week bespoke pain management

Stanmore National Orthopaedic Centre• 3 week residential• Psychology• Physiotherapy• Occupational Therapy

Genetic Services• Sheffield• Northwick Park Hospital

Educational Resources and CPD

www.potsuk.orgwww.ehlers-danlos.com

Acknowledgements

The International EDS Allied Health Working GroupJane Simmonds, Raoul Engelbert, Birgit Juul-Kristensen, Mark Scheper, Inge de Wandele,Verity Pacey, Sandy Smeenk, Nicoletta

Woinarosky, Stephanie Sabo, Leslie Russek, Caroline Alexander, Shea Palmer, Jan Dommerhalt, Robin Birt, Sophie Roberts,

Susan Morris, Mo Maarji, Alison Wesley, Robyn Hickmott, Leslie Nicholson

THANK YOUJane.simmonds@ucl.ac.uk

Twitter: @jvsimmonds01

Q&A Session

Prof Shea PalmerDr Caroline AlexanderSarah BennettDr Jane Simmonds

Summary

Prof Shea PalmerDr Caroline AlexanderSarah BennettDr Jane Simmonds

Impact

Pacey 2014

Assessment of impact

BIoH Questionnaire• First condition-specific patient-reported outcome

measure (Palmer et al, 2017a)

• Developed in close partnership with patients

• Captures impairments, activity limitations, participation restrictions

- High concurrent validity with SF-36 Physical Component Score (r=-0.725) (Palmer et al, 2017a)

- Excellent test-retest reliability (ICC=0.923). Smallest detectable change = 42 points. Performs better than SF-36 (Palmer et al, 2017b)

- Appropriateness, validity, acceptability, feasibility and interpretability confirmed by patients and physiotherapists (Manns et al, 2018)

- Known-group validity established (Palmer et al, In Press)

Effectiveness of interventions

- Palmer et al (2014)

• Patients who exercise seem to improve over time

• No adverse effects reported

• However, clear cause-effect relationships yet to be demonstrated due to lack of high quality RCTs

Overall conclusions• We are developing a much better understanding of the impact of

hEDS/HSD and what that means for therapy – complex conditions

• Early diagnosis seems vital

• BIoH questionnaire may be useful to capture impact

• Education for patients and clinicians, psychosocial support

• Comprehensive, multi-joint, multi-system, long-term conditions approach to management

• Therapy is likely to be effective… but better evidence is needed…

Thank You

Prof Shea PalmerDr Caroline AlexanderSarah BennettDr Jane Simmonds