International Genetic Research Group to Begin Study of Hypermobile Ehlers-Danlos Syndrome (hEDS)

A recent announcement by the Ehlers-Danlos Society marks the beginning of the recruitment phase for an international study devoted to determining the root cause of hEDS. The gathering of this distinguished international group of geneticists that form the Hypermobile EDS Genetic Research Network was made possible by two very substantial donations.

The EDS and Related Disorders Global Registry

The Global Registry contains the records of thousands of EDS and hypermobility spectrum disorder patients. This enables researchers to review and analyze data in much greater volume than would be available in most clinical trials.

The registry contains numerous studies covering EDS and HSD. The EDS Genetic study, which relied on data from the registry, is just one example of its contribution to the research community. EDS patients who are involved with the study must sign on to the Registry.

Recruitment Begins Soon

Within several months of its announcement, the Ehlers-Danlos Society will begin recruiting approximately one thousand hEDS patients in Spain with a second enrollment in Tennessee. Patients of clinicians throughout the world are invited to participate in the study if they meet study criteria and have signed on to the Global Registry.

About hEDS

Hypermobile Ehlers-Danlos syndrome is a connective tissue disorder mostly inherited from one parent. Researchers found that defects in genes weaken the formation of collagen, but they have not yet found the exact cause of hEDS.  It is not considered to be as severe as other forms of the disease, although rare exceptions do occur.

There are currently 14 subtypes of the disease. Of this group, hEDS is the only one that has yet to be identified by way of a genetic marker.

Characteristics of hEDS

Joint hypermobility, as the name implies, allows an extended range of motion. It occurs when the tissues that hold the joints together are too loose. It mostly affects the knees, shoulders, elbows, wrists, and fingers. If the muscles around the joints are weak, this creates additional extended mobility.

Some people with hEDS may develop joint stiffness or pain. Another common symptom is mildly elastic skin that bruises easily. In rare cases, an underlying medical condition may be the cause of the disease.

About Treatment

Treatment, such as physical therapy to improve stability and strengthen muscles, depends on the severity of symptoms experienced by each hEDS patient.

Pain medication may be prescribed and in some cases, there may be a need for devices such as braces or wheelchairs. It is advised to monitor for low bone density and enlargement of the aorta.

The focus is on preventing serious complications as well as relieving pain that is experienced by those affected with hEDS.

In conclusion, if the hEDS International Study is successful, it will lead to an accurate diagnosis and a pathway to a possible cure. Additional information about hEDS is available here.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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