Through a genetic analysis of more than 170 patients, researchers have identified new genetic mutations that may cause Ehlers-Danlos syndrome (EDS). “Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel … candidate genes and pathways,” the researchers wrote in the study,…
News
Having elongated and twisted arteries — called tortuous arteries — in the neck is tied to greater cardiovascular risk in people with vascular Ehlers-Danlos syndrome (vEDS), a new study reports. Moreover, the rate of cardiovascular events was higher among vEDS patients younger than 40 with high-risk mutations in the…
People with classical Ehlers-Danlos syndrome (cEDS) or hypermobile EDS (hEDS) commonly have disorders affecting the jaw muscles and often experience chronic pain, a study reported. Moreover, according to researchers, many cEDS and hEDS patients among the study population were found to have psychological distress. Specifically, more than 50% reached the threshold…
Teens with unusually flexible joints, like in hypermobile Ehlers–Danlos syndrome (hEDS), are more than twice as likely to have irritable bowel syndrome (IBS) than those without them, a large study of more than 1.6 million Israeli adolescents indicates. Knowing the odds of having IBS — a condition that affects…
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…
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