Understanding EDS

Hypermobile Ehlers Danlos Syndrome Research Studies 
in partnership with Researcher Brittany Galante and Researcher Shelby Paulson

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Ehlers-Danlos syndrome is a group of 13 connective tissue disorders. They have similar features, but differ in symptoms, genetic cause, and the way that they are inherited.
 

Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common of the 13 types and it affects 1 out of every 3,100-5,000 people.

The gene responsible for causing hEDS has not yet been identified. However, it is known that hEDS is inherited in an autosomal dominant manner, which means that someone with this condition has a 50% chance of passing it to each of their children.

People with hEDS report having seen many different specialists before they received a correct diagnosis; a journey that often takes years. In genetics, we call this search for a diagnosis a “diagnostic odyssey”. Once a person receives a diagnosis, throughout their lifetime they will see specialists for treatment and management of the numerous and highly variable symptoms that may occur.
 

Why do so many people living with hEDS not receive a correct and timely diagnosis? A current research study aims to investigate what healthcare specialists may contribute to this diagnostic odyssey, while another current research study aims to investigate the role that specialists play in healthcare management after diagnosis. The experiences and perceptions of healthcare quality reported by the hEDS community will provide valuable insight to both of these studies.

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If you live in the US and would like to participate, below are links to the two ongoing studies:

The first study is investigating patient perceptions of healthcare specialists’ knowledge of hEDS before receiving a diagnosis.