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.

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:

• EDS Awareness
• Ehlers-Danlos Society
• Ehlers-Danlos Support UK

1. 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.

2. The Ehlers-Danlos Society:  Hypermobile Ehlers-Danlos syndrome (hEDS).

3. 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.

4. 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.

5. Hypermobile Ehlers-Danlos Syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1279/.

6. Hypermobility Syndrome (Joint Hypermobility Syndrome)Medicine Net: https://www.medicinenet.com/hypermobility_syndrome/article.htm#what_causes_joint_hypermobility_syndrome.

7. 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.