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Extensive rehabilitation therapy given by a multidisciplinary team allowed a teenager with digestive problems due to hypermobile Ehlers-Danlos syndrome (hEDS) to forgo surgical feeding tube placement and still gain weight, a case study reports. “We believe that the combination of patient motivation, multidisciplinary intervention, and medication optimization led to successful…

A study recommends genetic testing if a pregnant woman is suspected of having Ehlers-Danlos syndrome (EDS), especially vascular EDS because this disease type carries an increased risk of uterine rupture during childbirth. The case study, “Twin Pregnancy with Untyped Ehlers-Danlos Syndrome Requiring Prompt Genetic Testing: A Case…

A rare genetic mutation that arose in a man well before his birth was the cause of Ehlers-Danlos syndrome (EDS) in his daughter, a case study reported. This finding marks only the second reported case of EDS being transmitted through what’s known as gonosomal mosaicism. Study researchers suggested that “further observations will…

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…

Immune dysfunction — including abnormal activation of mast cells and antibody deficiency — is common among people with hypermobile Ehlers–Danlos syndrome (hEDS) and those with hypermobile spectrum disorder (HSD), according to a U.S. study. These findings suggest that hEDS and its associated tissue fragility may increase the susceptibility…

An international study involving the largest group of patients worldwide, to date, has for the first time detailed clinical and molecular features of the rare musculocontractural form of Ehlers−Danlos (EDS) syndrome. This form of the condition is characterized by several malformations and progressive fragility-related symptoms, the study…

A total of 1,000 people with hypermobile Ehlers-Danlos syndrome (hEDS) have been invited to enroll in an ongoing international study — called the Hypermobile Ehlers-Danlos Genetic Evaluation or HEDGE — aimed at finding the genetic causes of this connective tissue disorder. According to the Ehlers-Danlos Society, which…

AR101 (enzastaurin), an orally available small molecule being developed to treat vascular Ehlers-Danlos syndrome (vEDS) by Aytu BioPharma, has been designated an orphan drug by the U.S. Food and Drug Administration (FDA). A request to launch a pivotal clinical trial in patients was also cleared by the FDA.

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.

Half of the women with Ehlers–Danlos syndrome (EDS) or hypermobile spectrum disorder (HSD) who took part in an online survey reported being affected by vulvodynia — a condition that causes chronic pain in the vulva — as well as dyspareunia, also known as genital pain during sexual intercourse, results…