Hypermobile Ehlers-Danlos syndrome (hEDS), formerly known as type 3 EDS, is a genetic connective tissue disorder characterized primarily by joint hypermobility, musculoskeletal complications, and a range of systemic symptoms. It is considered the most common form of Ehlers-Danlos syndrome (EDS) and affects connective tissues throughout the body, leading to symptoms that can impact the joints, skin, and various organ systems. Unlike some other forms of EDS, hEDS does not have a known molecular genetic marker, making diagnosis reliant on clinical criteria alone.
Hypermobile Ehlers-Danlos syndrome (hEDS), formerly known as type 3 EDS, is a genetic connective tissue disorder characterized primarily by joint hypermobility, musculoskeletal complications, and a range of systemic symptoms. It is considered the most common form of Ehlers-Danlos syndrome (EDS) and affects connective tissues throughout the body, leading to symptoms that can impact the joints, skin, and various organ systems. Unlike some other forms of EDS, hEDS does not have a known molecular genetic marker, making diagnosis reliant on clinical criteria alone.
The estimated prevalence of hEDS is 1 in 3,000 to 1 in 5,000 people. It is the most common type of EDS, accounting for 80-90% of all cases. It affects all ethnicities and both genders, although is more frequently diagnosed in females. Milder cases of hEDS are likely underdiagnosed.
Name | Abbreviation |
---|---|
Ehlers-Danlos syndrome type 3 | EDS type 3 |
Joint hypermobility syndrome (JHS) |
Unlike other EDS types where specific gene mutations have been identified, the genetic basis for hEDS is unknown at this time. Familial cases suggest an autosomal dominant pattern (see RareShare Guide on Genetic Inheritance) for some patients, but new de novo cases can also occur, complicating the picture. This leads to the view that multiple genes, epigenetic DNA modifications, or interactions with environmental factors may be involved.
Key clinical features include:
Generalized joint hypermobility (unusually flexible joints)
Chronic joint and limb pain
Frequent joint dislocations or subluxations (partial dislocations)
Fatigue and sleep disturbances
Soft, stretchy, or velvety skin
Easy bruising
Delayed wound healing
Proprioceptive impairment
Dysautonomia (e.g., dizziness, fainting, rapid heartbeat on standing)
Gastrointestinal issues
Anxiety, depression, and other mood disorders
As there is no genetic test for hEDS, clinical diagnosis is based on the 2017 hEDS international criteria, which include:
Generalized joint hypermobility (typically based on a standardized Beighton scoring assessment of hands, elbows, knees and spine)
Two or more of the following:
Musculoskeletal complications (e.g., pain, dislocations)
Positive family history
System manifestations of a connective tissue disorder
Exclusion of other connective tissue disorders and alternative diagnoses
Associated symptoms like dysautonomia, gastrointestinal complaints, and mood disorders are common but not part of the formal diagnostic criteria. Many people with significant symptoms may not meet full hEDS criteria and be diagnosed with Hypermobility Spectrum Disorder (HSD), which is classified into generalized (hypermobility throughout body), peripheral (hands and/or feet only), and localized (single joint or area) types.
The Beighton score is used to determine joint hypermobility. Scores of 5 or greater defines generalized joint hypermobility. The diagnostic score required is lower (4 or greater) for individuals aged 50+ and higher (6 or greater) for young children.
There is no cure for hEDS. Treatment is based on symptom management, including:
Physical therapy to strengthen muscles and stabilize joints
Pain management: Medications, physical modalities, and psychological support for chronic pain
Lifestyle modifications such as avoiding activities that strain hypermobile joints, activity pacing, and occupational therapy with assistive devices to aid with activities of daily living
Psychological support, especially for coping with chronic illness
Treatment of associated symptoms such as autonomic dysfunction, gastrointestinal issues, and mood disorders.
Multidisciplinary care is often required.
Disorder treatments vary depending on the symptoms present. Physical therapy can be used to help strengthen muscles and help with joint stability. In some affected individuals with more severe joint instability, braces, wheelchairs, or other assistive devices may be required. Wheelchairs or scooters can help offload the stress on the lower-extremities. Chronic muscle and bone pain may be managed using pain medications. Lastly, counselling can be useful to help with the psychological and pain associated with the disease.
Hypermobile Ehlers-Danlos syndrome is a chronic, lifelong condition. The prognosis in terms of symptom severity and functional impact is highly variable among patients. Life expectancy is generally normal, but quality of life may be reduced due to pain, disability and associated symptoms. Early diagnosis and supportive interventions can improve quality of life.
If you are searching for medical advice, specialists in hEDS can be found through support and advocacy groups, or directories such as the EDS Medical Professionals Directory. Some support groups available to aid individuals and families affected by hEDS such as:
Malfait, F., Francomano, C., Byers, P., et al. (2017). “The 2017 International Classification of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C, 175C(1), 8–26. https://doi.org/10.1002/ajmg.c.31552.
The Ehlers-Danlos Society: Hypermobile Ehlers-Danlos syndrome (hEDS).
Riley B. (2020). “The Many Facets of Hypermobile Ehlers-Danlos Syndrome.” J Am Osteopath Assoc. 120(1):30-32. doi: 10.7556/jaoa.2020.012. PMID: 31904772.
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. (2017). “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 Genet Part C Semin Med Genet 175C:48–69. https://www.ehlers-danlos.com/wp-content/uploads/2017/03/2017-American_Journal_of_Medical_Genetics_Part_C__Seminars_in_Medical_Genetics-8.pdf.
Hypermobile Ehlers-Danlos Syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1279/.
Hypermobility Syndrome (Joint Hypermobility Syndrome)Medicine Net: https://www.medicinenet.com/hypermobility_syndrome/article.htm#what_causes_joint_hypermobility_syndrome.
Hypermobile Ehlers-Danlos syndrome, National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center:https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome.
I'm new and just wanted to reach out and say hello. I've never gotten to talk to anyone else with EDS before so I'm really happy that I found this site. Hope you're all doing well in quarantine.
-Ali
Hello. That's great you got the diagnosis so young - sometimes people go through years or even decades of incorrect or ambiguous diagnosis. Do you use any other online groups? Here's are some links to "active groups":http://www.pinterest.com/OREDS/forums-support-eds-ehlers-danlos-syndrome/. Lot's of other info linked from the "home page":http://www.pinterest.com/OREDS/ too. What's on your mind today?
I have EDS type III with cross over of others. I look forward to discussing daily life with this ever morphing disorder. Each day presents new challenges and learning new ways to adapt so EDS doesn't rule my life. It's very frustrating and hard on my family members to see me in so much pain. Have you read The spoon theory yet? Google it or go to...www.idontlooksick.com I believe. Great articles.
Hey I am Jess I am 23 and I have suspected type 3 and 4 Ehlers Danlos Syndrome. I am looking for other sufferers to chat with and talk about the experiences of this frustrating disorders.
I would like to ask you some questions if you come back to the sight,,my family members have ehlers danlos type symptoms but we are also being evaluated for andersen tawil syndrome another condition related to chromosome 17..You seem to have some of the facial features of andersen tawil
Hello everyone!! How is everyone. No one has started a discussion yet so I thought i would get you guys going and ask how everyone found out about ehlers danlos and perhaps how you were diagnosed,, dont be afraid to post questions and ask for input from others as that is why most of us are here!! kaycee i have aquestion for doux if he comes back!!
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