Ehlers-Danlos Syndrome (EDS)

What is Ehlers-Danlos Syndrome (EDS)?
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. More information about EDS may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes 

What is the prevalence of Ehlers-Danlos Syndrome (EDS)?
The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. 

How is Ehlers-Danlos Syndrome (EDS) diagnosed?
EDS is generally diagnosed based on patient history and clinical findings. Genetic testing can facilitate the diagnosis of some subtypes. Electron microscopic analysis of tissue samples can also sometimes reveal characteristic abnormalities in collagen structure seen in EDS.

Is there any specific gene/pathway in Ehlers-Danlos Syndrome (EDS) that has been identified?
Genetic analysis is helpful in the diagnosis of many EDS subtypes, and different pathways affect different conditions (eg: mutations in COL5A1 for patients with Classical EDS (cEDS)).

How is Ehlers-Danlos Syndrome (EDS) treated?
The care of patients with EDS is generally focused on implementing preventative measures against serious or life-threatening complications. More information on treatment may be found here: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/. 

Are there any clinical trials underway for Ehlers-Danlos Syndrome (EDS)
The National Institutes of Health (NIH) has completed 16 clinical trials for EDS. Currently, there are 23 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?recrs=&cond=Ehlers-Danlos+Syndrome&term=&cntry=&state=&city=&dist=

How can RareShare be helpful to Ehlers-Danlos Syndrome (EDS) patients and families?
The EDS Rareshare community has 23 members. There are currently 3 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in EDS and provide them continual access to community resources.