Ehlers-Danlos syndromes (EDS) (Group of Conditions)

Ehlers-Danlos syndromes (EDS) (Group of Conditions)

Rare Disease Classifications:

ORPHA:98249 Ehlers-Danlos syndrome

ICD-11: LD28.1 Ehlers-Danlos syndrome

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

This page has been co-developed through consultations with RVA Partner Connective Tissue Disorders Network Australia (CTDNA), and a lived experience expert.

Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research and Data | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References

Emergency Management

It may be important to consider the following when managing individuals living with Ehlers-Danlos syndromes (EDS) at emergency departments/services:

  • Individuals with EDS may have very fragile skin and may bruise easily1,2
  • Individuals with EDS have joint hypermobility and may experience pain, sprains, and for some types of EDS, may have joint dislocations1,2
  • Individuals with EDS often have atrophic scars1,2
  • There may be life-threatening complications, such as increased risk of vascular, organ and muscle rupture, particularly for individuals with vascular EDS (vEDS)1,2
  • EDS typically affects various tissues and organs,2 and some individuals with EDS may have co-morbidities,1 hence it is important for medical professionals to be aware of, and take into account, the individual’s medical history and experiences

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) is a review that focuses on issues relevant for anaesthesia for elective and emergency surgery in EDS; please note that it was published in 2014 and may not include up to date information.

Clinical Care Guidelines

We are not aware of any current official clinical care guidelines for Ehlers-Danlos syndromes (EDS) in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

Summary

Ehlers-Danlos syndromes (EDS) are a group of complex, heritable connective tissue disorders (HCTD) that are characterised broadly by: 1,2

  • joint hypermobility (double-jointedness) – presence of joints that can bend further than the normal range
  • skin hyperextensibility – skin that can stretch beyond the normal range before returning to normal
  • tissue fragility – more likely to bruise easily and have abnormal wound healing

Individuals with EDS may bruise easily, have joint dislocations, fractures and atrophic scars, and commonly experience pain, chronic fatigue and functional disability.1-4 As connective tissues are an important part of every organ system, EDS can affect various and multiple body systems resulting in numerous other symptoms and complications, depending on the EDS subtype as well as the individual.2

There are currently 13 recognised subtypes of EDS.1 Each EDS subtype has a different cause and distinctive set of symptoms; however, there are some overlaps in symptoms between the different subtypes. Symptoms can also vary between individuals of the same subtype.

Most EDS subtypes are caused by defects in the production or processing of collagen and other proteins that are important for the structure and function of tissues and organs such as the skin, joints, blood vessels and eyes.2 These defects are due to genetic changes in specific genes that are important in connective tissues. Hypermobile EDS (hEDS) is the most common of the EDS subtypes, but its cause has not yet been established.1,2

Below are the 13 recognised subtypes of EDS:1

More information about the various EDS subtypes can be found in the 2017 international classification of the Ehlers–Danlos syndromes.

Useful Links for Professionals

Reports from the International Consortium on the Ehlers‐Danlos Syndromes

The 2017 international classification of the Ehlers–Danlos syndromes

Orphanet: Ehlers-Danlos syndrome

Diagnostic Criteria Checklist for Hypermobile Ehlers-Danlos Syndrome (hEDS) – distributed by The Ehlers-Danlos Society; please refer to the 2017 international classification of Ehlers-Danlos syndrome (linked above) for the complete criterion information and context

Royal Australian College of General Practitioners (RACGP): Hypermobility syndromes in children and adolescents

The Ehlers Danlos Society: EDS ECHO Multidisciplinary Team Practice Australasia program

Ehlers-Danlos Support UK (EDS UK): The Ehlers-Danlos syndromes (EDS) GP Toolkit

 

Personal Stories

Ehlers-Danlos syndromes (EDS) varies between individuals, and each person’s experience is unique.

Personal Stories shared with Rare Voices Australia:

If you would like to share your personal story with Rare Voices Australia and have it included on the RARE Portal, please visit Rare Voices Australia: Share Your Story.

Symptoms

There are a wide range of signs and symptoms associated with Ehlers-Danlos syndromes (EDS).1-3 Individuals with EDS may experience many different symptoms and health issues associated with multiple body systems.2 This varies between EDS subtypes as well as between individuals with the same subtype.

The characteristic hallmarks of EDS that distinguishes it from other conditions are:1,2

  • joint hypermobility (double-jointedness) – presence of joints that can bend further than the normal range
  • skin hyperextensibility – skin that can stretch beyond the normal range before returning to normal
  • tissue fragility – more likely to bruise easily and have delayed wound healing with atrophic scars

Individuals with EDS also often report experiencing pain, chronic fatigue, muscle weakness, tendency to fall and difficulties in doing typical, daily activities (functional disability), including walking in some cases.3,5,6 Other signs, symptoms and complications of EDS include:1-8

  • chronic and acute pain that can affect bones, joints, ligaments, tendons or muscles
  • skeletal changes affecting the chest wall and roof of mouth (palate)
  • skin manifestations
  • increased risk of vascular, organ and muscle rupture and bleeding complications
  • cardiovascular (heart and blood vessels) issues
  • gastrointestinal (digestive system) issues
  • immunological (immune system) issues
  • urinary issues
  • gynaecological (female reproductive organs) issues
  • ocular (eye and vision) issues

There are other health conditions (comorbidities) that are noted to occur frequently in some individuals with EDS, in particular hEDS.3,4 These include conditions affecting the autonomic nervous system (dysautonomias), such as postural orthostatic tachycardia syndrome (POTs), orthostatic intolerance (OI) and mast cell activation syndrome (MCAS).3,4,9 There are also some reported associations between EDS and psychiatric conditions, such as anxiety and depressive disorders.9-11

There may be further health issues and complications associated with EDS that have not been covered here. More information about the specific clinical features of each EDS subtype can be found in the 2017 international classification of the Ehlers–Danlos syndromes.

Please also speak to your medical team to learn more about the symptoms and complications of a specific subtype of EDS.

Cause/Inheritance

Ehlers-Danlos syndromes (EDS) are genetic conditions that are heritable (can be passed on from one generation to another).1 They are caused by genetic changes in specific genes that have an important role in connective tissue integrity.  Causal genes have been identified for 12 of the 13 subtypes, with hypermobile EDS (hEDS) being the only subtype where the genetic basis is still yet to be established.1,2

Depending on the EDS subtype, the condition may be inherited in an autosomal dominant or recessive manner.1-3 More information about the specific genetic and its corresponding clinical features of each EDS subtype can be found in the 2017 international classification of the Ehlers–Danlos syndromes. 1

More information on the relevant inheritance patterns can be found at:

If you would like to learn more about the inheritance and impact of a particular type of EDS where the genetic cause has been identified, please ask your doctor for a referral to a genetic counsellor.

Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

Diagnosis

Diagnosis of Ehlers-Danlos syndromes (EDS) is specific for each EDS subtype. A set of major and minor diagnostic criteria has been proposed for each subtype, as outlined in the the 2017 international classification of the Ehlers–Danlos syndromes.1

Genetic testing may be used to confirm an EDS diagnosis for all subtypes, except for hypermobile EDS (hEDS).1 As the genetic basis of hEDS is not known, genetic testing is not possible and diagnosis of hEDS is solely based on clinical features and symptoms (clinical diagnosis). For individuals that do not meet the clinical criteria for hEDS but have symptomatic joint hypermobility, a diagnosis of hypermobility spectrum disorder (HSD) may be considered.2,8

A paediatric diagnostic framework for children with joint hypermobility has been proposed in 2023 by the Paediatric Working Group of the International Consortium on Ehlers Danlos Syndromes (EDS) and hypermobility spectrum disorders (HSD).

Differential diagnosis (to rule out other conditions) includes hypermobility spectrum disorder (HSD), cutis laxa syndromes, Marfan syndrome, Stickler syndrome, Loeys–Dietz syndrome, arterial tortuosity syndrome, osteogenesis imperfecta, Larsen syndrome, and other skeletal dysplasias, and Bethlem myopathy.1,2

Please speak to your medical team to learn more about the available diagnostic pathways for a particular subtype of EDS.

Treatment

There is no overall curative treatment for Ehlers-Danlos syndromes (EDS), but there are strategies to manage the symptoms and complications of the various EDS subtypes. Management of EDS typically requires a multidisciplinary medical team.2

Management strategies may include pain management, physiotherapy, dietary considerations, and use of orthotics, braces, splints, assistive equipment and mobility aids.2,6,12 It is also recommended that individuals with EDS have awareness about prevention and early recognition of injuries and complications associated with EDS, and exercise caution when participating in activities that may put stress on joints or cause injury, including sports.3

 Monitoring and treatment of cardiovascular, gastrointestinal, immunological and other complications may be required for some individuals.3

It is best to speak with your medical team to learn more about possible treatments for a specific subtype of EDS and to determine suitability of treatment. Treatment will depend on an individual’s specific symptoms and complications.

Clinical Care

Healthcare professionals involved in the treatment of Ehlers-Danlos syndromes (EDS) may include general practitioners (GP), paediatricians, physicians, geneticists, rheumatologists, dermatologists, cardiologists, vascular surgeons, neurologists, gastroenterologists, pulmonologists, orthopaedists endocrinologists, dentists, orthodontists, physiotherapists, occupational therapists, psychologists, psychiatrists and dieticians.2,3,5-7 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

 

Clinical Services

Connective Tissue Dysplasia (CTD) Clinic (Sydney)
Clinical Genetics
The Children’s Hospital at Westmead
Website: https://www.schn.health.nsw.gov.au/clinical-genetics-childrens-hospital-westmead

The Connective Tissue Dysplasia (CTD) clinic provides a tertiary diagnostic advice and rehabilitation services for children with Connective Tissue Disorders such as Marfan Syndrome or genetic forms of Ehlers-Danlos Syndrome. The Clinical Genetics Department does not provide ongoing management for children with Connective Tissue Dysplasias.

Clinical Genetics Service at Royal Prince Alfred (RPA) Hospital (Sydney)
Website: https://slhd.health.nsw.gov.au/rpa/services/clinical-genetics-service/ehlers-danlos-syndrome-and-hypermobility-spectrum-disorder

The Clinical Genetics Service at RPA Hospital can provide tertiary diagnostic advice for children and adults with rare heritable connective tissue disorders such as EDS and Marfan Syndrome.

Ehlers-Danlos Syndrome (EDS) Genetics Clinic (Melbourne)
Genetic Medicine
The Royal Melbourne Hospital (RMH Parkville)
Website: https://www.thermh.org.au/services/genetic-medicine

The RMH Parkville Genetic Medicine service provides risk assessment, genetic counselling, genetic testing and medical advice as well as psychological support to individuals and their family members.

Research and Data

Please visit Australian Clinical Trials to learn about clinical trials for Ehlers-Danlos syndromes (EDS) in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for EDS in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Connective Tissue Disorders Network Australia (CTDNA) 
Website: https://ctdna.org.au/
Contact form: https://ctdna.org.au/contact-us/

Connective Tissue Disorders Network Australia (CTDNA) is the collaborative effort of people both living with, and / or caring for those with HCTD. Individuals are often both; a patient, and a carer. CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD – a network of like-minded individuals coming together to better the care and management of Australians impacted by HCTD.

Global organisations

The Ehlers Danlos Society
Website: https://www.ehlers-danlos.com

The Ehlers-Danlos Society is a global organisation dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD).

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Support Services/Resources

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

Mental Health

People living with a rare disease including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful.

Information about relevant mental health and wellbeing support can be found at:

Other

Further information on Ehlers-Danlos syndromes (EDS) can be found at:

References
  1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017;175(1):8-26. https://doi.org/10.1002/ajmg.c.31552
  2. Malfait F, Castori M, Francomano CA, et al. The Ehlers-Danlos syndromes. Nat. Rev, Dis. Primers. 2020; 6:64. https://doi.org/10.1038/s41572-020-0194-9
  3. Miklovic T, Sieg VC. Ehlers-Danlos syndrome. Updated 29 May 2023. In: StatsPearl [internet]. Treasure Island (FL): StatPearls Publishing. 2024-Jan. Accessed 13 December 2024. https://www.ncbi.nlm.nih.gov/books/NBK549814/
  4. Basalom S, Rauch F. Bone disease in patients with Ehlers-Danlos syndromes. Curr. Osteoporos Rep. 2020; 18(2):95-102. https://doi.org/10.1007/s11914-020-00568-5
  5. Brady AF, Demirdas S, Gournel-Gigleux S, et al. The Ehlers–Danlos syndromes, rare types. AM. J. Med. Genet. C. Semin. Med. Genet. 2017; 175(1):70-115. https://doi.org/10.1002/ajmg.c.31550
  6. Gensemer C, Burks R, Kautz S, et al. Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. Dev. Dyn. 2021; 250(3):318-344. https://doi.org/10.1002/dvdy.220
  7. Tinkle B, Castori M, Berglund B, et al. 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. Sem. Med. Genet. 2017; 175(1): 48-69. https://doi.org/10.1002/ajmg.c.31538
  8. Volberding PA, Spicer CM, Cartaxo T, et al. (eds). Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. In: Selected Heritable Disorders of Connective Tissue and Disability. National Academies Press (US). 8 July 2022. Accessed 18 December 2024. https://www.ncbi.nlm.nih.gov/books/NBK584966/
  9. Csecs JLL, Dowell NG, Savage GK, et al. Variant connective tissue (joint hypermobility) and dysautonomia are associated with multimorbidity at the intersection between physical and psychological health. Am. J. Med. Genet. C. Semin. Med. Genet. 2021 ;187(4):500-509. https://doi.org/10.1002/ajmg.c.31957
  10. Bulbena A, Baeza-Velasco C, Bulbena-Cabré A, et al. Psychiatric and psychological aspects in the Ehlers-Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017;175(1):237-245. https://doi.org/10.1002/ajmg.c.31544.
  11. Ishiguro H, Yagasaki H, Horiuchi Y. Ehlers-Danlos syndrome in the field of psychiatry: A review. Front Psychiatry. 2022;12:803898. https://doi.org/10.3389/fpsyt.2021.803898
  12. Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017;175(1):212-219. https://doi.org/10.1002/ajmg.c.31554
Page Last Updated

16/04/2025 15:49