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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…

A new study reveals a lack of awareness among health professionals and pregnant women with Ehlers-Danlos syndrome (EDS) about the condition and the risks associated with it, especially during pregnancy and birth. This lack of awareness could delay access to appropriate care, with detrimental effects for moms-to-be and their babies, according…

Proper psychologial care for people with a history of vascular Ehlers-Danlos syndrome (EDS) who experience stress from a traumatic event is crucial for the prevention of complications. The findings are from a Japanese case report of an EDS patient who suffered artery dissection shortly after her mother died. The report,…

Mutations in the gene COL3A1, responsible for the development of vascular Ehlers-Danlos syndrome (vEDS), are associated with alterations in several structural proteins, according to researchers. The study, “Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome,” was…