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Many people with Ehlers-Danlos syndrome (EDS) report experiencing throat problems such as acid reflux, dysphagia (difficulty swallowing), and dysphonia (a hoarse voice), a survey study found. People with hypermobile EDS (hEDS), the most common type of the disease, experienced more severe acid reflux and dysphagia than those with…

A 23-year-old man in Greece was diagnosed with vascular Ehlers-Danlos syndrome (vEDS) about two years after his symptoms of recurrent bowel ruptures had started, according to a recent case report. While gastrointestinal involvement as the first sign of EDS has been reported, the rarity of the disease and its…

Zevra Therapeutics is adding Edsivo (celiprolol), an experimental therapy for vascular Ehlers-Danlos syndrome (vEDS), to its clinical pipeline of rare diseases, as part of an agreement in which the company will acquire Acer Therapeutics, The new deal means Zevra will take over the ongoing Phase…

A 28-year-old woman presented with spontaneous papillary muscle rupture (PMR), a potentially fatal heart complication, likely caused by vascular Ehlers-Danlos syndrome, a few days after giving birth. According to researchers, this is the first reported case of rupture of two papillary muscles, which are critical for the function of…

Patients with hypermobile Ehlers-Danlos syndrome (hEDS) report more voice, upper airway, and swallowing problems than the general population, a study found. A similar higher prevalence was found in people with hypermobility spectrum disorders (HSD). That’s according to the study, “Laryngological Complaint Prevalence in Hypermobile Ehlers-Danlos or Hypermobility Spectrum…

Stress in a cell compartment called the endoplasmic reticulum (ER) may cause irregularities in collagen fibrils that underlie the serious blood vessel-related symptoms of vascular Ehlers-Danlos syndrome (vEDS), according to a recent study. Patients who had more irregular collagen fibrils — major structural units of cells — tended to…

A man with vascular Ehlers-Danlos syndrome (vEDS) had life-saving emergency surgery to repair a tear in his bowel caused by segmental absence of intestinal musculature (SAIM), a condition where a part of the bowel wall’s muscle is missing. Both vEDS and SAIM can lead to fragile tissues that can…

Some people with Ehlers-Danlos syndrome (EDS) may experience symptoms affecting the larynx (voice box), according to a report of nine patients in the U.S., including six who were singers. “Recent years have seen an increase in reports on the laryngeal manifestations of Ehlers–Danlos Syndrome,” researchers wrote. “Here, we attempt…

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…