News

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 man with an unusual combination of Birt-Hogg-Dubé syndrome, a rare disease of the skin and organs, and Ehlers-Danlos syndrome (EDS) was found to carry a new mutation in COL5A1, a gene linked to the classical type of EDS, according to a report. “This mutation could have…

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, “…

Women with Ehlers-Danlos syndrome (EDS) are at a higher risk for complications during pregnancy than other women, including poorer fetal growth, preterm delivery, and postpartum bleeding, a study using a large U.S. database reports. Likewise, these patients were more likely to deliver via cesarean section. But a number of…

Psychological trauma due to hostility or disinterest from a clinician is common among people with hypermobile Ehlers-Danlos syndrome (EDS), an interview-based study reported. Such unpleasant encounters can lead patients to lose trust in healthcare providers, the healthcare system in general, and to develop anxiety regarding further care. Researchers described…

A young girl with short stature due to spondylodysplastic Ehlers-Danlos syndrome (spEDS) was found to carry two copies of a new gene mutation that likely is disease-causing, a report from India says. The previously unreported mutation maps to the SLC39A13 gene, which has been linked to this type of…

A man with vascular Ehlers-Danlos syndrome (EDS) underwent a vein graft surgery to replace a damaged section of artery in his right arm with good results, as described in a recent report. “It has been four years after the operation … and the patient has good right-hand function,” the scientists…

Compared with the general population, people with Ehlers-Danlos syndrome (EDS) are at a greater risk of complications following anterior cervical discectomy and fusion, a common surgery to treat damage to the cervical spine of the neck, a study reports. “EDS presents a challenge to cervical spine fusion patients who…

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…

Surgical treatments for brain blood vessel problems with vascular Ehlers-Danlos syndrome (EDS) are increasingly successful, but caution is needed because the procedures carry a high rate of complications that can be deadly, a new study shows. “Endovascular therapy [blood vessel-based surgery] in patients with vascular EDS can be performed efficaciously, with…