Ver 5.2 - 20/07/17 Page 1 of 15 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 EDS 1,2,10 • 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 Life 1,2 and vEDS reference article 10 All EDS – Anaesthetics and Surgery • Local anaesthetic – local, regional or epidural has less effect and slower onset in EDS 27,28 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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Ver 5.2 - 20/07/17 Page 1 of 15
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
• 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
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
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
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