Classical EDS (cEDS)
- cEDS is caused by genetic variants in the following genes: COL5A1, COL5A2, COL1A1
- Main features include significant skin hyperextensibility, atrophic scarring, skin fragility, joint hypermobility and joint instability.
- cEDS affects approximately 1 in 20,000 - 40,000 people
- There is no cure of cEDS and management should focus on managing individual symptoms. -Joint and skin protection as well as avoidance of trauma are important management strategies
- Patient with cEDS will benefit from the care of the multidisciplinary GoodHope EDS team
Vascular EDS (vEDS)
- vEDS is caused by genetic variants at COL3A1
- vEDS affects 1/50,000 - 1/200,000
- Common features are arterial aneurysm, dissection and rupture, bowel rupture and uterine rupture
- There is no cure for vEDS and treatment should focus on risk avoidance, regular vascular screening, blood pressure maintenance, and treatment of underlying symptoms/health issues
- The GoodHope EDS clinic can provide assessment, diagnosis and support for patients with vEDS