Steve Bryson, PhD,  science writer—

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 “…

Nonemergency open surgery can safely and successfully repair abdominal aortic aneurysms (AAAs) in people with vascular Ehlers-Danlos syndrome (vEDS), according to a study of three cases. AAAs are bulges in the aorta, the large artery that runs from the heart to the abdomen. Because vEDS is associated with weakened…

Mutations that cause vascular Ehlers-Danlos syndrome (vEDS) result in less collagen production and altered properties of the extracellular matrix (ECM), the molecular scaffold that supports cells and gives shape to tissues, a study shows. Because altered ECM properties seemed to be associated with more severe disease, they may serve…

Most adults with hypermobile Ehlers-Danlos syndrome (hEDS) report notable changes in breathing patterns, called functional respiratory complaints, according to a population survey. The survey included the Nijmegen questionnaire (NQ), which assessed these breathing-related symptoms, including chest pain, dizzy spells, shortness of breath, faster or deeper breathing, and chest…

Adults with hypermobile Ehlers-Danlos syndrome (hEDS) often receive more than 10 alternative diagnoses before a confirmed hEDS diagnosis, according to a large patient survey. Anxiety, depression, and migraines were the most common diagnoses. On average, it took about 10 years and 15 clinicians to receive an hEDS diagnosis. The…

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 was diagnosed with the classical type of Ehlers–Danlos syndrome (EDS) despite showing signs of kyphoscoliotic EDS (kEDS), a case study reported. Her diagnosis was confirmed only after the discovery of a previously unreported variant in the COL5A2 gene, known to be associated with classical EDS…

Researchers detailed the upper limb motion, occurrence of dislocations, and bone health of children and adults with musculocontractural Ehlers-Danlos syndrome (mcEDS). Shoulder dislocations were the most frequent dislocations, while two or more upper limb dislocations occurred in the majority of study participants. Children, more than adults, had hyperextended elbow…

Mutations in the FKBP14 gene, a cause of kyphoscoliotic Ehlers-Danlos syndrome (kEDS), lead to the accumulation of collagen protein within connective tissue cells, a case series reported. Typically, collagen is secreted from these cells to add strength, support, and stretchiness to organs and tissues. In kEDS, it instead is…

Spinal fusion surgery is not associated with additional complications for adults with Ehlers Danlos syndrome (EDS) compared with other patients undergoing the surgery, according to a large-scale analysis of insurance database information. The most common reason for additional surgery in EDS patients five years after the initial spinal surgery…