Margarida Maia, PhD,  science writer—

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…

Aytu BioPharma has formed its new scientific advisory board, which will work toward advancing the global development of AR101 (enzastaurin), an antitumor agent with the potential to treat vascular Ehlers–Danlos syndrome (vEDS). There currently are no approved treatments for vEDS, characterized by thin, translucent skin that is easily bruised, and…

Weekly rehabilitation sessions mixing mild exercise with cognitive training for pain management may help in relieving lower back pain in people with hypermobile Ehlers–Danlos syndrome (hEDS), a pilot study suggested. Its researchers call for new approaches in rehabilitation, like neurocognitive rehab sessions, that focus on a patient’s perception of…

Doctors should consider the possibility of vascular Ehlers–Danlos syndrome (EDS) when seeing a patient with recurrent pneumothorax — the presence of air in the space between the lungs and the chest wall — that’s resistant to conventional therapy, according to a case report. The report described a 19-year-old man…

A type of mutation not usually considered when screening possible cases of classical Ehlers–Danlos syndrome (EDS) was found to underlie the disease in a child whose parents did not carry the mutation. The findings call for a broadening of the portfolio of mutations in genetic testing, researchers said.

Joint hypermobility syndrome, including hypermobile Ehlers–Danlos syndrome (hEDS), is present in a large proportion of people with functional dyspepsia — a common gastrointestinal disorder also known as indigestion without an underlying cause, a study showed. The presence of joint hypermobility, however, does not significantly prevent the digestive system from working…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…