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HYPERMOBILITY AND EHLERS-DANLOS SYNDROMES (EDS) –

A NEW ZEALAND OVERVIEW Includes Generalised Joint Hypermobility (GJH) and Hypermobility Spectrum Disorders (HSD)

New Zealand Organisation for Rare Disorders (NZORD) – July 2017

Introduction to Hypermobility

This New Zealand-based review is to help clinicians to recognise joint hypermobility and to consider

possible diagnoses and management approaches when in day-to-day practice they see patients with one

or more of the following:

• Joint hypermobility (double-jointed), especially when associated with musculoskeletal pain

• Recurrent subluxations/dislocations

• Unusual skin – especially skin fragility or hyperextensible skin

• Unusual bruising or bleeding

The spectrum of Hypermobility disorders includes GJH (Generalised Joint Hypermobility), HSD

(Hypermobility Spectrum Disorder), hEDS (Hypermobile Ehlers-Danlos Syndrome) and the other EDS

(Ehlers-Danlos Syndromes) types. They are considered together here for simplicity and because of

potential diagnostic overlap at first sight. This broad-based overview sets out to provide the clinician with

tools to place patients in a presumptive diagnostic category based on clinical features and to develop an

initial management plan.

RED FLAGS

vEDS – Vascular EDS1,2,10

• Arterial rupture or unusual bleeding in a child or young adult. Aorta, other large vessels and small

vessels can be involved.

• See How to Save a Life1,2 and vEDS reference article10

All EDS – Anaesthetics and Surgery

• Local anaesthetic – local, regional or epidural has less effect and slower onset in EDS27,28

o May need more anaesthetic and longer wait before beginning procedure

• Surgical issues

o Prone to bleeding

Hypermobility Spectrum Disorder

(HSD)

EDS

(Main feature in hEDS but present in all types)

OTHER

(Trauma, neurological deficit, muscle disorders, etc.)

HCTD

(Heritable connective tissue disorders - Marfan's,

osteogenesis imperfecta, etc.)

HYPERMOBILITY

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o Problems with tourniquet – compartment syndrome

o Potential for tissue damage and subluxation with positioning issues

Any clinician planning surgery or anaesthesia in a patient with hypermobility or EDS should carefully

read Wiesmann et al: Recommendations for anaesthesia and perioperative management in patients

with Ehlers-Danlos Syndrome(s)26

Assessment

History

• History of hypermobility (double-jointed) – now or historically at any stage of life

• Hyperextensible (stretchy) skin

• Musculoskeletal pain (joint and muscle pain)

• History of one or more of these – this list is not exhaustive

o Enquire about family history – all EDS has a genetic component

o Repeated dislocations (often of more than one joint) - often “spontaneous” with less than

usual trauma

o Easy bruising – especially in children where the history is of no trauma but there are obvious

bruises. Is in the differential for non-accidental injury.

o Vessel rupture or unusual internal bleeding in a young person

o Unusual or severe prolapses and hernias or bowel perforation in younger people

o Associated symptoms that may be present (but are not diagnostic) include (but not limited

to): fatigue, headaches, sleep disturbance, autonomic dysfunction (especially POTS –

Postural Orthostatic Tachycardia Syndrome), irritable bowel, and Mast Cell Activation

Syndrome

Examination – See “Aids to Diagnosis”

• Usual basic clinical examination

• Check for hypermobility - Check Beighton Score3

o If ≥ 4/9, hypermobility is present (depends on age3)

o If positive, look for other EDS features to differentiate GJH, HSD and EDS

o In adults, if too stiff or painful to do Beighton Score, use “Five Point Questionnaire” - see

Aids to Diagnosis

o Look for other causes of hypermobility e.g. neurological, trauma etc.

• Check skin for hyperextensibility – especially in cEDS. See Aids to Diagnosis

o 3cm stretch at neck, elbow, and knee. 1.5cm forearm. 1 cm palm (thenar eminence).

• Check skin for atrophic scarring - see Aids to Diagnosis

• Assess joints and tender areas – typical inflammatory signs absent in face of significant pain

Investigations

• There are no specific or suggestive laboratory findings

• There are specific known genetic mutations/abnormalities for cEDS and vEDS (and most of the rare

types) but not for hEDS. Clinical diagnosis is made first using criteria outlined in7 followed by genetic

confirmation wherever possible and practical.

Differential diagnosis – a few suggestions (not exhaustive)

• Other causes of hypermobility such as constitutional, Marfan’s Syndrome, Trisomy 21, previous

injury, neuropathic joints, osteogenesis imperfecta

• Vessel rupture – all other congenital and acquired causes including trauma

• Joint and muscle pain

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o Other arthropathies usually are typically inflammatory in nature, have more swelling and

often have suggestive radiology or laboratory

o Fibromyalgia

• Bruising (esp. in children) – other vasculopathies and clotting defects, e.g. von Willerbrands

• Stretchy skin - there may be other causes but in the context of hypermobility think of cEDS

Indications for transfer or initial specialised assessment

• Acute vascular rupture is a medical emergency – consult vascular surgeons

• All others – a clinician well versed in EDS if available

• Support services – as this can be a chronic, debilitating and painful condition, a multidisciplinary

approach over the long term is important

AIDS TO DIAGNOSIS

BEIGHTON SCORE – Assessment tool for hypermobility

1 2 3 4 5

1 point for each side for 1-4 and 1 point for 5. Total 9. If ≥ 4/9, hypermobility is present (From 7).

See 3 for video.

THE FIVE-POINT QUESTIONNAIRE Use in cases where it is not possible to do Beighton Score or where superimposed pain and stiffness in an adult will give a falsely low Beighton Score – See 7

1. Can you now (or could you ever) place your hands flat on the floor without bending your knees? 2. Can you now (or could you ever) bend your thumb to touch your forearm? 3. As a child, did you amuse your friends by contorting your body into strange shapes or could you do

the splits? 4. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? 5. Do you consider yourself “double-jointed”?

A “yes” answer to ≥ 2/5 questions suggests joint hypermobility with 80–85% SKIN - HYPEREXTENSIBILITY

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SKIN - SCARRING

(From 7)

FACIAL FEATURES IN vEDS

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Management

ACUTE EMERGENCIES

• Vascular rupture – appropriate vascular surgery or interventional radiology referral

• Dislocations – appropriate orthopaedic referral

• Acute pain – usual principles

DIAGNOSIS

• Give a tentative clinical diagnosis. Assure the patient you don’t think it’s all in their head – this is

often what they have been told for a long time.

• Offer patient information on Ehlers-Danlos.com website and support groups – See References

REFERRAL

• If available refer to a clinician with experience in EDS – geneticist, rheumatologist, etc.

• A multidisciplinary team best leads care. Practically this often means the primary care doctor will

refer to the appropriate specialist as and when needed, e.g. orthopaedic surgeon, neurosurgeon.

PAIN – INITIAL (ACUTE)

• Usual principles for initial management of acute or chronic pain

o Usually start with paracetamol and work up as needed

o There are no specific analgesics proven to have significant advantage in HSD/EDS

• Bracing or splinting can be helpful

INJURIES – INSTABILITY, SUBLUXATIONS, DISLOCATIONS, TENDON & LIGAMENT INJURIES –

INITIAL EMERGENCY AND ACUTE (SHORT TERM) STRATEGIES

• Each individual injury episode (dislocation) should be treated as a new trauma on its own merits and

not just passed off as “part of your condition”. Aim is to return to the pre-injury state. Even though a

dislocation may be due to less force than in someone without EDS, the associated tissue effects

and damage will likely be no less severe, e.g. Bankart lesion in shoulder.

• Dislocation - initial reduction

o Because those with EDS may have severe pain, instability or injury elsewhere in the same

region, some typical traction and twisting movements used for reduction may need to be

modified to prevent injury elsewhere from the procedure itself, e.g. with shoulder dislocation

pulling from the wrist or forearm may injure wrist or elbow. May need to modify hand position

and grip. The force needed to reduce may be less than that needed for non-EDS. Some

patients can “spontaneously reduce”.

o Protect skin – it may be fragile. Use padding if needed.

o Ligament and tendon injuries may take longer to heal and may recur after relatively less

trauma after the first episode

• Subluxations may respond well to gentle manipulation rather than actual reduction

• Splinting and bracing are important after reduction

• Immediate post-trauma physiotherapy is used it is important to take into account the somewhat

different approach needed in EDS.

• Appropriate rehabilitation is aimed at return to independent living

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JOINT INSTABILITY AND PAIN – LONG TERM STRATEGIES TO STABILISE

After an initial injury some of the joints may become prone to repeat injury from relatively minor trauma

• Physiotherapy – see below

• External bracing

o Braces and splints can be useful to prevent or after dislocation/subluxation as well as for

comfort

o In the first instance splinting is best discussed with and accessed through a local

physiotherapy department.

o Specific hypermobility-focused splint types can improve function and reduce pain even in the

absence of current or recent subluxation/dislocation. As an example, finger splints along the

lines of ring splints30 can be very helpful to prevent finger hyperextension to improve overall

finger stability.

o Neoprene or elastic supports and compressive clothing are also used and can be useful as

they allow proprioceptive feedback as well as support and pain relief. Discuss options with

physical therapist or occupational therapist.

o Orthotic referral where appropriate

• Surgery may have a sub-optimal outcome but may be important in critical areas, e.g. craniocervical

instability. When referring to or discussing with an orthopaedic surgeon, neurosurgeon, etc., be

clear that the patient has EDS where issues may include slow healing, early recurrence and poor

response to local anaesthetic agents.

• Non-surgical approaches to joint stabilisation such as prolotherapy offer some hope and may be

appropriate in selected circumstances in adults. Materials (chemical/sclerosant) injected into

ligaments are thought to induce healing with scarring and shortening which in turn may increase

joint stability and thereby reduce pain and subluxation. Not yet widely available.

PHYSIOTHERAPY29

• As there are limited management options, physiotherapy is key

• Traditional techniques of physiotherapy often need adapting for EDS and always require taking a

wider view of the patient

• Physiotherapy should be aimed at empowering the patient towards self-management

• Aim for social rehabilitation training for independence with help of occupational therapists where

needed

• Appropriate strategies:

o Education and reassurance

o Most patients will benefit from an individualised, carefully graduated exercise and activity

programme

o Physiotherapists can also advise on posture correction, proprioception training,

splints/supports/taping, relaxation techniques, hydrotherapy, gentle manual techniques,

including Myofascial release and pain management strategies

o For dislocation and subluxation management, see “I’m popping out for a while”35

o The Muldowney Protocol30 is an EDS specific programme that can take over a year to work

through with a musculoskeletal therapist (6-9 months in younger patients). Not all patients

can tolerate this and there are few physiotherapy departments that are likely to be able to

provide a service over this length of time at this stage. Currently there is no evidence to

show this is more beneficial than physiotherapy strategies listed above, but it may be worth

investigating.

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SURGERY AND ANAESTHESIA26,27,28

• Surgical complications may be increased due to slow healing and potential for bleeding. Appropriate

strategies should be planned and discussed in EDS context.

• Recurrence after surgery may occur because of the inherently abnormal ligaments.

• Some issues with anaesthesia:

o Unstable neck may be an issue with positioning

o Slow and suboptimal response to local anaesthetic incl. epidurals

o Tourniquet can cause bruising and compartment syndrome

o Positioning can cause unexpected subluxations including temporomandibular joint during

anaesthesia

Any clinician planning surgery or anaesthesia in a patient with hypermobility or EDS should

carefully read Wiesmann et al: Recommendations for anaesthesia and perioperative management in

patients with Ehlers-Danlos Syndrome(s)26

GENERAL SUPPORT

• Support groups offer advice on how to cope with day-to-day living with a painful chronic disease that

may significantly disrupt life

• Chronic pain teams may help to design an overall pain management strategy

• Psychology support can be helpful

Request Help

A NOTE ON COORDINATING CARE

• Many patients can be managed by their GP and physiotherapist with occasional input from an EDS

specialist

• Some with complex or severe issues will need a truly multidisciplinary team that may include

orthopaedics, neurosurgery, gastroenterology, etc.

• Appropriate referrals for specific interventions, e.g. hand therapist, prolotherapy

ADVICE

• Best all-round web advice: Ehlers-Danlos Society12,13

• Some geneticists, rheumatologists and musculoskeletal specialists have experience in diagnosing

and managing EDS. Local availability will likely be variable.

• The New Zealand EDS Working Group that is part of NZORD (New Zealand Organisation for Rare

Disorders) may be able to offer some resources in the near future. This may include a list of Health

Professionals with EDS knowledge and experience. See NZORD.33

GENERALISED JOINT HYPERMOBILITY (GJH)

There is a spectrum of GJH

1. Asymptomatic (non-syndromic) GJH – hypermobility without other symptoms. Other causes, e.g.

neurological deficit must be excluded.

2. Symptomatic GJH that doesn’t meet criteria for hEDS – HSD

3. A well-defined syndrome - hEDS

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Joint hypermobility can lead to micro and macro trauma, which in the long run can be a leading cause of

pain and in adulthood degenerative changes. This can range from hyperextension injury to mild subluxation

through to frank dislocation. Each event leads to surrounding collateral damage.

HSD – HYPERMOBILITY SPECTRUM DISORDER4,5

• Common

• Hypermobility and significant additional symptoms are typically limited to the musculoskeletal

system

• Pain may be significant and debilitating

• Types

o Generalised HSD – G-HSD

� GJH

� Musculoskeletal manifestations – Similar to hEDS

o Peripheral HSD – P-HSD

� Hypermobility in hands and feet only

� Musculoskeletal manifestations – Similar to hEDS

o Localised HSD – L-HSD

� Hypermobility in a single joint

� Musculoskeletal manifestations – Similar to hEDS

o Historical – history of one of the above usually with 5-Point Questionnaire

EDS – EHLERS-DANLOS SYNDROMES

EDS (Ehlers-Danlos Syndromes) are a group of inherited disorders characterised by defects in collagen

mainly affecting the ligaments and soft tissues

• Relatively rare – about 1:5000. F>M

• Basis is abnormal collagen – different types of collagen in each of the EDS types

• The commonest (>80-90%) is hEDS – genetic basis currently not known

• cEDS and vEDS are uncommon – have a known genetic basis (see Table below)

o All the rest are very rare but genetic basis is clear

There are 13 types of EDS with significant overlap in features5,6

CLINICAL CLASSIFICATION OF EDS

EDS SUBTYPE ABBREV INHERITANCE GENETICS COLLAGEN

Classical cEDS AD COL5A1, COL5A2 Type 5

Vascular vEDS AD COL3A1 Type 3

Hypermobile hEDS AD Unknown Unknown

10 other types See Ref 6,7

Hypermobile - hEDS

(Most common)

Classical - cEDS

(Common)

Vascular - vEDS

(Rare - Most risk)

10 Others

(Very rare)

EDS

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hEDS – HYPERMOBILE EDS7,8,9

• Most common

• See hEDS Diagnostic Checklist for details and how to apply criteria - includes a downloadable pdf 8

o Criterion 1 - Main feature (must be present)

� Generalised Joint Hypermobility (Beighton Score ≥ 4/9 over age 50; ≥ 5/9 in young

adults; ≥ 6/9 in children and adolescents) 3

o Criterion 2 (at least 2 features)

� Feature A – Generalised connective tissue disorder (at least 5/12 present)

• Soft, velvety skin

• Mild skin hyperextensibility (not as much as cEDS)

• Unexplained striae

• Piezogenic papules (nodules on side of feet)

• Recurrent/multiple hernias

• Atrophic scarring

• Arachnodactyly

• Arm span-Height ratio: ≥ 1.05

• Pelvic floor prolapse

• Dental crowding

• Mitral valve prolapse

• Aortic root dilatation

� Feature B

• Family history (autosomal dominant but can appear to skip)

� Feature C (at least 1) - see details in checklist

• Musculoskeletal pain

• Chronic widespread pain ≥ 3 months

• Recurrent joint dislocations/instability in absence of significant trauma (may

also occur with trauma)

o Criterion 3 – All must be present

� No skin fragility

� Reasonable exclusion of other connective tissue disorders e.g. Marfan’s

� Exclusion of other disorders that could cause GJH

To diagnose hEDS all 3 criteria must be satisfied.

• Other features that can occur (not an exhaustive list)

o Sleep disturbance, chronic fatigue, POTS, functional GIT disorders, unusual hernias, internal

hernias, dysautonomia, Raynaud’s, MCAS, some cardiac features, osteoarthritis secondary

to joint instability, headaches, TMJ dysfunction, increased gynaecological presentations,

pelvic floor dysfunction, anxiety, depression. Multiple other features that affect quality of life

may be part of the spectrum.

• Overall effect on life may range from severe (bed-ridden) to relatively minor

cEDS – CLASSICAL EDS 7,11

• Relatively common

• Major criteria

o Skin features - hyperextensible skin, atrophic scarring (esp. knees & elbows)

o Generalised Joint Hypermobility

• Minor criteria

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o Easy bruising

o Soft, doughy skin

o Skin fragility

o Molluscoid pseudotumours

o Subcutaneous spheroids

o Hernia or history of

o Epicanthal folds

o Complications of GJH

o Family history of 1st degree relative

To diagnose cEDS:

• Criterion 1 – Skin features

Plus

• Criterion 2 – GJH &/or at least 3 minor criteria

Needs confirmation with genetic testing if possible.

vEDS – VASCULAR EDS 7,10

• Rare and dangerous

• Major criteria

o Family history proven vEDS

o Arterial rupture at young age

o Spontaneous colon perforation in absence of other disease

o Uterine rupture without predisposing cause

o Carotid-cavernous sinus fistula without trauma

• Minor criteria

o Bruising not related to trauma or in unusual sites

o Thin, translucent skin with easily visible veins

o Characteristic facial appearance

o Spontaneous pneumothorax

o Acrogenic

o Talipes equinovarus

o Congenital hip dislocation

o Hypermobility of small joints

o Tendon and muscle rupture

o Keratoconus

o Gingival recession and fragility

o Early onset varicose veins

To diagnose need a family history with arterial rupture or dissection younger than 40 or any of the

other major features

Genetic testing is important

ALL OTHER TYPES – See Ref 7

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UNUSUAL SYMPTOMS THAT CAN BE ASSOCIATED WITH EDS – esp. hEDS

• Dysautonomia (autonomic dysfunction) such as POTS (postural orthostatic tachycardia syndrome)

• MCAS (mast cell activation syndrome) masquerading as unusual allergies

• GIT symptoms including constipation

• Raynaud’s

A Note on Genetics

Of the three most common forms of EDS, vEDS and cEDS have an established genetic basis. Determining

the exact molecular basis for these conditions can be useful for diagnosis, management and reproductive

decision-making. It is, however, not mandatory that every person with a clinical diagnosis of EDS

undergoes molecular analysis.

To arrange for an assessment of the genetic basis for a person with a vEDS or cEDS phenotype, a referral

can be made to Genetic Health Services NZ through any one of their three hubs centered in Christchurch,

Wellington or Auckland. See the GHSNZ website for details on how to lodge a referral and request for

assessment at www.genetichealthservice.org.nz

Rarer forms of EDS can also be assessed in a similar manner on a case-by-case basis.

For hEDS (by far the most common), although there are clear familial (autosomal dominant) components

underpinning the disorder, a defined molecular basis has not been discovered. A referral of such individuals

can still be made to GHSNZ, but beyond a confirmation of the clinical diagnosis little specific laboratory

investigation can be offered."

Note that genetic services criteria for acceptance are such that assessment is not guaranteed, especially

for hEDS.

This document has been edited by Matthew Preston (Radiologist) for New Zealand EDS Working Group

July 2017

Email: matpre@gmail.com

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Important Clinical Tools & References

1. HOW TO SAVE A LIFE - a condensed list of life-saving surgical and post-operative suggestions for patients with Vascular Ehlers-Danlos Syndrome (a bit dated but succinct) http://edstoday.org/urgent/

2. HOW TO SAVE A LIFE – downloadable booklet at http://edstoday.org/wp-content/uploads/2016/09/vEDS_cdrombooklet.pdf

3. The Ehlers-Danlos Society. Beighton Score - How to assess Joint Hypermobility. Includes video and downloadable printable version at https://ehlers-danlos.com/assessing-joint-hypermobility/

4. What is HSD? - The Ehlers Danlos Society Online at https://ehlers-danlos.com/what-is-hsd/ 5. Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the classification of

joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 2017. 175C:148–157. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31539/full

6. EDS Types - The Ehlers Danlos Society Online https://ehlers-danlos.com/eds-types/ 7. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers–Danlos

syndromes. Am J Med Genet Part C Semin Med Genet. 2017. 175C:8–26. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full

8. The International Consortium on Ehlers-Danlos Syndromes & Related Disorders. Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS). Online https://ehlers-danlos.com/heds-diagnostic-checklist/

9. Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Gen. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31538/full

10. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. 2017. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:40–47. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31553/full

11. Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. 2017. Ehlers–Danlos syndrome, classical type. Am J Med Genet Part C Semin Med Genet175C:27–39. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31548/full

General References

12. Ehlers Danlos Society – multiple resources for patients and doctors at https://ehlers-danlos.com 13. Ehlers-Danlos Society – collection of important articles for doctors at https://ehlers-danlos.com/eds-

articles-research/ 14. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Special Issue: The

Ehlers-Danlos Syndromes: Reports from the International Consortium on the Ehlers-Danlos Syndromes. 2017. March 2017. Volume 175, Issue 1. Pages i–i, 1–245. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.v175.1/issuetoc

15. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. 2017. The Ehlers–Danlos syndromes, rare types. Am J Med Genet Part C Semin Med Genet 175C:70–115. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31550/full

16. Hakim A, O'Callaghan C, De Wandele I, Stiles L, Pocinki A, Rowe P. 2017. Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:168–174. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31543/full

17. Hakim A, De Wandele I, O'Callaghan C, Pocinki A, Rowe P. 2017. Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet175C:175–180. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31542/full

18. Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. 2017. Gastrointestinal involvement in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:181–187. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31546/full

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19. EricsonJr. WB, Wolman R. 2017. Orthopaedic management of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:188–194. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31551/full

20. HendersonSr. FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. 2017. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet175C:195–211. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full

21. Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C. 2017. Pain management in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet175C:212–219. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31554/full

22. Mitakides J, Tinkle BT. 2017. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:220–225. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31541/full

23. Seneviratne SL, Maitland A, Afrin L. 2017. Mast cell disorders in Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:226–236. Online http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31555/full

24. Bulbena A, Baeza-Velasco C, Bulbena-Cabré A, Pailhez G, Critchley H, Chopra P, Mallorquí-Bagué N, Frank C, Porges S. 2017. Psychiatric and psychological aspects in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:237–245. Online http:// http://www.ojrd.com/content/9/1/109 onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31544/full

25. Recommendations for anaesthesia in EDS - https://ehlers-danlos.com/wp-content/uploads/recommendations-for-anesthesia.pdf

26. Wiesmann et al. Orphanet Journal of Rare Diseases 2014, 9:109. Online http://www.ojrd.com/content/9/1/109

27. Local anaesthetic failure in EDS - https://ehlers-danlos.com/wp-content/uploads/local-anesthetic-failure.pdf

28. Downloadable brochures - https://ehlers-danlos.com/brochures/

For Physiotherapists

29. Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. 2017. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. Am J Med Genet Part C Semin Med Genet175C:158–167. Online at http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31545/full

30. The Muldowney Protocol – the book is a “How To” for patients and physiotherapists to work through together. Available as hard copy http://www.muldowneypt.com/living-life-to-the-fullest-with-ehlers-danlos-syndrome/

31. Ring splints - http://www.silverringsplint.com

For Patients31,32,33,34,35,36 and Doctors33 Seeking Advice

32. Ehlers-Danlos Society – Patient Support https://ehlers-danlos.com/patient-support/

33. Loosely speaking – New Zealand support Facebook page – type “Loosely Speaking” into the

Facebook search box. This is a closed group – so ask to join. Link is

https://www.facebook.com/search/top/?q=loosely%20speaking%20-

%20ehlers%20danlos%20nz%20support%20group

34. NZORD – New Zealand Organisation for Rare Disorders at http://www.nzord.org.nz - includes Specialist Directory

35. Dislocation/subluxation management or “I’m just popping out for a while!” - Jason Parry - https://ehlers-danlos.com/wp-content/uploads/Dislocation-Subluxation-Management.pdf

36. Genetic and Rare Diseases Information Centre at

https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes

37. Myths and facts - for patients - at http://edstoday.org/myths-and-facts/

Ver 5.2 - 20/07/17 Page 14 of 15

Appendix 1 – Flowcharts

Ver 5.2 - 20/07/17 Page 15 of 15

APPENDIX 2 – WORKING GROUP MEMBERS (Alphabetical)

NAME ORGANISATION ROLE EMAIL

BURLING; Fraser

Rheumatologist Auckland Rheumatologist backtolife@iconz.co.nz

CALLEAR; Rachel

Hutt Valley DHB Paediatric Rheumatologist Physiotherapist

Rachel.Callear@huttvalleydhb.org.nz

CAMPBELL-STOKES; Priscilla

Hutt Valley DHB Paediatric Rheumatologist Hutt Valley DHB

Priscilla.Campbell-Stokes@huttvalleydhb.org.nz

CRAWFORD; Lisa

NZORD Relationship Manager Lisa.crawford@nzord.org.nz

PRESTON; Matthew

BOPDHB; Eastbay Radiology

Medical - Radiologist matpre@gmail.com

ROBERTSON; Stephen

Department of Women’s and Children’s Health Dunedin School of Medicine University of Otago

Curekids Professor of Paediatric Genetics

Stephen.robertson@otago.ac.nz P: +64 3 4797469 F: +64 3 4797469 web: http://www.otago.ac.nz/clinical-genetics

TAYLOR; Will

HYPERMOBILITY AND EDS – PATHWAY DOCUMENT LIST – To follow

This current document is an overview of Hypermobility and EDS. Several of the areas covered require

more detailed information to guide management in more detail. As they become available the additional

documents will be added alongside this one.

# TITLE PURPOSE STATUS CONTACT

1 Hypermobility And Ehlers-Danlos Syndromes - New Zealand Overview

Overview and basic management guidelines with extensive references

Current – this document

Matthew Preston

2 Physiotherapy in Hypermobility and EDS

Detailed physiotherapy discussion

To follow

3 Paediatric aspects of Hypermobility and EDS

Paediatric specific matters To follow

4 Genetics in Hypermobility and EDS

Details of genetics and genetic testing

To follow

5 Hypermobility and EDS – Specific Therapies

Discussion of therapies including some developing and trial therapies

To follow

6 Hypermobility And Ehlers-Danlos Syndromes - New Zealand Overview – Patient Version

This document written for patients to use. Includes patient-friendly references and support resources.

To follow