Patricia Inácio, PhD,  science writer—

People with severe connective tissue disorders, namely vascular Ehlers-Danlos (vEDS) and Loeys-Dietz syndromes (LDS), have better quality of life than those with the milder hypermobile EDS (hEDS), according to a recent study. Patients with vEDS or LDS experienced significantly less depression, pain, fatigue and sleep problems compared with…

A young woman with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) showed severe alterations in blood vessels that complicated her clinical care, a case study reports. “kEDS is a rare disease impacting multiple organ systems requiring the involvement of a specialized multidisciplinary team to optimize management,” researchers wrote. The case study, “…

A mutation in the MIA3 gene, found in a woman in Poland as part of a larger study, was deemed to be a likely cause of hypermobile Ehlers-Danlos syndrome (hEDS), the most common form of EDS. The variant was found in a 49-year-old hEDS patient and in her daughter…

Screening and monitoring of arteries — the blood vessels carrying blood from the heart to other organs — in adults with vascular Ehlers-Danlos syndrome (vEDS) is common practice in Europe, despite a lack of clear guidelines, a study reports. In contrast, arterial monitoring in young children without symptoms should…

A genetic testing technique called next-generation sequencing (NGS) may help unveil unrecognized disease-causing mutations linked with Ehlers-Danlos syndrome (EDS) and related disorders, a Polish study suggests. The study, “Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome,” was published in Current Issues…

Acer Therapeutics expects to launch its pivotal Phase 3 DiSCOVER clinical trial — which will test Edsivo (celiprolol) in patients with COL3A1-positive vascular Ehlers-Danlos syndrome (vEDS) — by the end of June. The announcement follows an agreement between Acer and the U.S. Food and Drug Administration (FDA)…

The European Commission has granted an orphan drug designation to Aytu BioPharma’s AR101 (enzastaurin), an oral therapy candidate for Ehlers-Danlos syndrome (EDS), including the severe subtype vascular EDS (vEDS). The commission’s decision follows a positive recommendation by the Committee for Orphan Medicinal Products, an arm of the European…

A spontaneous tear in the colon of an adult at younger ages could indicate vascular Ehlers-Danlos syndrome, a case study reports. The case, “Total colectomy in Vascular Ehlers Danlos syndrome a case report and literature review” was published in the journal Annals of Medicine and Surgery.

“A correct diagnosis of [classical Ehlers-Danlos syndrome or] cEDS is not always straightforward,” researchers in Belgium concluded in a new study, in which the scientists urged that anyone suspected of having this type of the rare connective tissue disorder undergo a complete clinical examination, followed by genetic testing. Such testing…

Scientists have identified a set of new genetic mutations as the likely cause of bone fractures during the embryonic development of a baby born to a woman with hypermobile Ehlers-Danlos syndrome (hEDS). One of the mutations was found in the CCDC134 gene, which had been previously linked with bone fragility. These…