News

Two new mutations in the COL3A1 gene, the underlying chief cause of vascular Ehlers-Danlos syndrome (vEDS), were discovered after being missed by standard genetic testing, a study reported. “Our study highlights the necessity of a comprehensive approach to the genetic diagnosis of vEDS,” wrote the researchers in “…

A woman with kyphoscoliotic Ehlers-Danlos syndrome (EDS), a rare disease form that causes an abnormally curved spine, went misdiagnosed with Larsen syndrome, which can also cause the spine to curve, for more than 40 years, according to a report. This case in the U.S. highlights the value of genetic testing…

A nine-week multidisciplinary rehabilitation program was associated with improved exercise capacity, reduced fatigue, better balance, and greater life quality for people with hypermobile Ehlers-Danlos syndrome (hEDS) in a small study. Many of these benefits — and new ones — were evident six weeks and six months after the rehab…

Chronic pain was prevalent among people with classical Ehlers-Danlos syndrome (cEDS), strongly affecting life quality and emotional health, according to a recent study. cEDS patients also exhibited abnormal sensory perceptions and heightened pain responses compared with healthy people. The authors, who touted the study as the first to systematically…

Nonemergency open surgery can safely and successfully repair abdominal aortic aneurysms (AAAs) in people with vascular Ehlers-Danlos syndrome (vEDS), according to a study of three cases. AAAs are bulges in the aorta, the large artery that runs from the heart to the abdomen. Because vEDS is associated with weakened…

Sometimes, it may be best to not do surgery on an aneurysm — a bulge in a weakened area of a blood vessel — and avoid the risks that come with operating on the fragile tissues of people with vascular Ehlers-Danlos syndrome (vEDS). That’s according to experience gained in…

Adolescents with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) are twice as likely to have active migraine than those without the diseases, according to a recent study in Israel. Migraine is a type of headache that can cause severe throbbing pain or a pulsing sensation, usually on…

Mutations that cause vascular Ehlers-Danlos syndrome (vEDS) result in less collagen production and altered properties of the extracellular matrix (ECM), the molecular scaffold that supports cells and gives shape to tissues, a study shows. Because altered ECM properties seemed to be associated with more severe disease, they may serve…

Wearing compression garments — tight-fitting, elastic clothing items — and doing physiotherapy may help people with hypermobile Ehlers-Danlos syndrome (EDS) improve balance and proprioception, a small study has found. Proprioception refers to a person’s perception of the location and movement of their body. The study, “Effects of compression…

Most adults with hypermobile Ehlers-Danlos syndrome (hEDS) report notable changes in breathing patterns, called functional respiratory complaints, according to a population survey. The survey included the Nijmegen questionnaire (NQ), which assessed these breathing-related symptoms, including chest pain, dizzy spells, shortness of breath, faster or deeper breathing, and chest…