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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…

A girl in Saudi Arabia was diagnosed with classical Ehlers-Danlos syndrome (cEDS) after a seemingly spontaneous perforation in her stomach wall, according to a case report. With increasing reports of such cases, patients need to be educated about EDS and offered family counseling, the researchers wrote. The study, “…

Women with hypermobile Ehlers-Danlos syndrome (hEDS) show similar physical functioning, as well as muscle strength, density, and mass, compared with those with hypermobile spectrum disorder (HSD), a study found. However, both patient groups have worse physical health and muscle strength than healthy women of the same age. The study,…

A new mutation in the COL3A1 gene has been linked to vascular Ehlers-Danlos syndrome (vEDS) in a woman in Japan, scientists report. This genetic variant — which was not found among more than 8,000 healthy Japanese people nor in worldwide databases of disease-associated variants — adds to the increasing number…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…