News

A man with myopathic Ehlers-Danlos syndrome (mEDS) was able to retain motor function because of the interaction of two separate mutations in the COL12A1 gene, according to a case report. The man had brain issues as well: Chiari malformation type 1, a condition in which the cerebellum (a brain region…

A new smartphone app, called the Hypermobility Assessment Tool (HAT), may aid in earlier and more accurate screening for Ehlers-Danlos syndrome (EDS). Powered by artificial intelligence (AI), the app uses a smartphone camera to analyze how a person moves and identify hypermobile joints, a hallmark sign of EDS. Approved by…

Weight loss surgery, medically known as metabolic and bariatric surgery, or MBS, can be safely performed in people with hypermobile Ehlers-Danlos syndrome (hEDS), according to two U.S. researchers behind a new case report. The team detailed the case of a woman in California with hEDS who underwent two types…

A promising surgical technique involving a skin transplant followed by an application of “spray-on skin cells” may help wounds to heal in people with Ehlers-Danlos syndrome (EDS), according to a recent case report. The report is the first to document the use of this regenerative cell technology, typically used…

Hypermobile Ehlers-Danlos syndrome (EDS) is not just a problem of the connective tissue that provides structure to the body, but also involves changes in the immune response, which could provide opportunities to improve diagnosis and treatment, a study finds. “Our study provides strong evidence that immune dysregulation plays a…

Prolotherapy, a type of regenerative medicine, may be a promising option to treat sacroiliac joint instability in people with Ehlers-Danlos syndrome (EDS), according to a small study. Treatment reduced self-reported pain in the sacroiliac joint, where the spine meets the pelvis, and improved the functional outcomes of patients,…

Mutations in the B3GALT6 gene, a cause of spondylodysplastic Ehlers-Danlos syndrome (spEDS), disrupt the maturation of a type of collagen protein, undermining the structure and strength of connective tissue, according to a new study. These findings “may have a significant impact on the clinical expression of spEDS and advance…

For people living with hypermobile disorders like Ehlers-Danlos syndrome (EDS), the path to a correct diagnosis is often a long and difficult one, a new study suggests, leading to years of pain and a higher risk of serious health problems. The German-based research highlights a significant disconnect in care,…

A 25-year-old man’s perforated colon was the result of an undiagnosed case of vascular Ehlers-Danlos syndrome (vEDS), according to a case study from Portugal. “In the absence of colonic disease and with clinical manifestations of connective tissue disorders, a genetic investigation for vEDS should be conducted, even in individuals…

In the first case of its kind, doctors report that a child with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) recovered from a major bleeding emergency without needing surgery. The case suggests a non-surgical approach may be feasible for patients with the rare condition. Doctors managed the boy, 11, conservatively with blood…