Hypermobile Ehlers-Danlos Syndrome

The Norris Lab

2017 International Criteria for hEDS

As we age, we tend to get stiffer. Therefore, many may have a lower Beighton score which may lead to more inaccurate diagnoses. It is important for providers to be aware of this.

Note: updates are being made and this criterion is subject to change in years to come.

Helpful Links

More information about EDS as a whole:

Podcast with the Hypermobility MD, Dr. Bluestein:

Lectures by Healthcare Professionals on YouTube:

Access to personal stories:

Important Reminders

EDS is a wide spectrum and every case is different and unique. Each of you deserve recognition. We see that you exist and we care about you and your well-being. -Dr. Sujana Reddy

Although there is no current cure, treatment options are available and are important for providers to be aware of to increase accessibility. Having an accurate diagnosis is vital so that your medical team knows and understands the root cause of your symptoms. Your quality of life can be improved with this knowledge. We will be developing a handout that you can print and bring to appointments with you if providers are unfamiliar or not aware of what to look for - we will make an announcement when this is available!

Sources:

1. Bloom L, Byers P, Francomano C, et al. The international consortium on the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175:5.

2. Miklovic T, Sieg VC. Ehlers Danlos Syndrome. [Updated 2022 Jun 9]. In: StatPearls[Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/

3. Hakim A, O'Callaghan C, De Wandele I, et al. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type. Am J Med Genet C Semin Med Genet 2017;175:168.

4. Demmler JC, Atkinson MD, Reinhold EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison BMJOpen 2019;9:e031365. doi: 10.1136/bmjopen-2019-031365

5. Levy HP. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [Updated 2018 Jun 21]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1279/

6. Shirley ED, Demaio M, Bodurtha J. Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health. 2012 Sep;4(5):394-403. doi:10.1177/1941738112452385. PMID: 23016112; PMCID: PMC3435946.

7. Gensemer, C., Burks, R., Kautz, S., Judge, D. P., Lavallee, M., & Norris, R. A. (2020). Hypermobile ehlers‐danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. Developmental Dynamics, 250(3), 318–344. https://doi.org/10.1002/dvdy.220

Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common type of EDS and is more common than many are aware of. A national survey done in Wales in 2019 found that the prevalence of EDS is roughly 1 in 500.4 hEDS currently does not have a gene test but researchers at the Norris Lab are working on identifying a gene for it (see link below to their website). Individuals with EDS have a number of symptoms including degenerative joint disease, chronic pain associated with subluxations and dislocations (pain usually occurs from muscles spasms around the joint), hyperextensible skin that is often soft and does not heal properly, easy bruising, functional bowel disorders/ gastrointestinal issues (i.e., gastroparesis, gastritis, irritable bowel syndrome, median arcuate ligament syndrome etc), cardiac issues like mitral valve prolapse, dental issues, and other co-occurring conditions including postural orthostatic tachycardia syndrome, mast cell activation syndrome, crainio-cervical instability or CCI (our neck is stabilized by ligaments and the laxity of the ligaments can cause the joints in the neck to move excessively and cause complications) to name a few.2,5-7