Lindsey Shapiro, PhD,  science writer—

Using genetic testing, researchers in Japan identified 16 new COL3A1 gene mutations associated with vascular Ehlers-Danlos syndrome (vEDS), according to a recent case series. A range of different types of mutations was identified — each associated with a different level of disease severity and symptoms, or clinical presentation. “This is…

Most families affected by Ehlers-Danlos syndrome (EDS) feel their medical care needs are not being met, according to a survey of patients and caregivers in the midwestern U.S. Survey respondents believe they or their child would benefit from an integrated and multidisciplinary team, with an ideal approach including pain…

A higher incidence of Ehlers-Danlos syndrome (EDS) is evident in people with gastroparesis — a condition in which the stomach doesn’t properly empty itself of food — than would be expected among the general public, researchers reported. Genetic analysis revealed that mutations in genes associated with EDS, in particular…

Mortality rates following surgery for certain complications of the aorta — the main artery that carries blood away from the heart — are low among people with Ehlers-Danlos syndrome (EDS), a study has found. But non-elective or emergency hospital admissions were linked to a greater mortality risk, data show.

Young women with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) have low bone mineral density and significant gastrointestinal issues, a study has found. These complications may be linked to lower protein consumption that has a lasting effect on bone health, the researchers suggested. The study, “…

Chronic pain and fatigue are common symptoms among people with vascular Ehlers-Danlos syndrome (vEDS) and Loeys-Dietz syndrome (LDS), a Norwegian study has found. While the symptoms were linked to each other, they were each also associated with the presence of sleep problems and a greater multi-organ disease burden,…

A first case of vascular Ehlers Danlos syndrome (vEDS) occurring with Takayasu arteritis (TAK) — a rare inflammatory condition in blood vessels — was successfully treated with anti-inflammatory therapy, according to a case report. “To the best of our knowledge, this is the first case…

Orthostatic intolerance — a condition characterized by symptoms like dizziness, elevated heart rate, or blurred vision upon moving to an upright position — was common, and had a significant impact, among young women and adolescent girls with hypermobile Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorder (G-HSD), according…

A collapsed lung and a new TNXB gene mutation were identified for the first time in a patient diagnosed with classical-like Ehlers-Danlos syndrome (clEDS), according to a recent case report. The report, “Recurrent pneumothorax in case of tenascin-X deficient Ehlers-Danlos syndrome:…

A genetic testing technique called whole-exome sequencing (WES) revealed potentially disease-causing mutations in three people with Ehlers-Danlos syndrome (EDS) —  and provided evidence for the patients’ disease type — in a recent study. An accurate diagnosis of a patient’s EDS type is important for appropriate…