News

Patients with spondylodysplastic Ehlers-Danlos syndrome with a specific mutation in the B4GALT7 gene may show hearing loss and lower limb swelling over other more common symptoms of the disease, such as specific radiographic abnormalities or intellectual disabilities, a case report shows. The report, “Expanding the clinical…

Gastrointestinal (GI) symptoms in patients with hypermobile Ehlers-Danlos syndrome (hEDS) can develop due to a mobile cecum, an abnormality that leads to longstanding abdominal symptoms, according to a new case study. The report, titled “Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and…

A patient with vascular Ehlers-Danlos syndrome (vEDS), recurrent pneumothorax, and other atypical pulmonary complications was described in a case report from South Korea. The case study, “Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci, A case report,” was published in the…

The Ehlers-Danlos Society is launching an awareness campaign about hypermobility in athletics — especially in the dance, gymnastics, and acrobatic communities — to help families understand the challenges of having a super-flexible body. The global initiative started in May, which is recognized as Ehlers-Danlos Awareness Month. For highly flexible athletes in demanding…

Patients with vascular Ehlers-Danlos syndrome (EDS) can, in rare cases, develop cardiomyopathy — a condition affecting the heart muscle — possibly due to mutations in the  COL3A1 gene, according to a new case report. The report, “A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system…

Acer Therapeutics is planning to request approval for its investigative therapy Edsivo (celiprolol) to treat patients with vascular Ehlers-Danlos syndrome (vEDS) in the United States. The company expects to submit a new drug application (NDA) to the U.S. Food and Drug Administration by the end of the first…

Patients with Ehlers-Danlos syndrome (EDS) showed a low recurrence rate after hernia surgery, possibly due to the large mesh size used in the procedure, according to researchers. Their study, “Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series,” was published…

Ehlers-Danlos syndrome is strongly associated with several oral and mandibular (jaw) conditions, including craniofacial pain and temporomandibular joint (TMJ) syndrome, according to a recent review. The inclusion of these symptoms may help in the diagnosis and treatment of this clinically and genetically heterogeneous disease. The review article, “The…

Ehlers-Danlos syndrome is strongly associated with orthostatic intolerance syndromes, particularly postural tachycardia syndrome, researchers found in a recent analysis. The study, “Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome,” was published in the journal Autonomic Neuroscience: Basic and Clinical. EDS is…

Variants in the AEBP1 gene were identified as the cause of a form of Ehlers-Danlos syndrome in four people from three unrelated families, researchers report. The study, “Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome,” was published in the The…