News

Researchers have identified a rare type of disease-causing mutation, called a multi-exon deletion in the COL5A1 gene, in a girl with classical Ehlers-Danlos syndrome (cEDS). The girl inherited the disease from her father, who showed no symptoms but carried the mutation in some of his cells but not…

Using genetic testing, researchers in Japan identified 16 new COL3A1 gene mutations associated with vascular Ehlers-Danlos syndrome (vEDS), according to a recent case series. A range of different types of mutations was identified — each associated with a different level of disease severity and symptoms, or clinical presentation. “This is…

A Tarlov cyst, a fluid-filled sac in the spine that may rarely occur as a complication of Ehlers-Danlos syndrome (EDS), caused long-lasting loss of bladder and bowel control (incontinence) in a boy with hypermobile EDS, a study showed. While several cases of Tarlov cysts in adults with EDS have…

Most families affected by Ehlers-Danlos syndrome (EDS) feel their medical care needs are not being met, according to a survey of patients and caregivers in the midwestern U.S. Survey respondents believe they or their child would benefit from an integrated and multidisciplinary team, with an ideal approach including pain…

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…

A higher incidence of Ehlers-Danlos syndrome (EDS) is evident in people with gastroparesis — a condition in which the stomach doesn’t properly empty itself of food — than would be expected among the general public, researchers reported. Genetic analysis revealed that mutations in genes associated with EDS, in particular…

Mortality rates following surgery for certain complications of the aorta — the main artery that carries blood away from the heart — are low among people with Ehlers-Danlos syndrome (EDS), a study has found. But non-elective or emergency hospital admissions were linked to a greater mortality risk, data show.

Young women with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) have low bone mineral density and significant gastrointestinal issues, a study has found. These complications may be linked to lower protein consumption that has a lasting effect on bone health, the researchers suggested. The study, “…

Screening and monitoring of arteries — the blood vessels carrying blood from the heart to other organs — in adults with vascular Ehlers-Danlos syndrome (vEDS) is common practice in Europe, despite a lack of clear guidelines, a study reports. In contrast, arterial monitoring in young children without symptoms should…

Signs of dysfunction in small nerve fibers, the nerve cells mainly responsible for detecting sensations like pain, are found in people with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD), according to a large retrospective study. Assessing these abnormalities could help better classify people with hEDS or HSD based…