Demystifying Ehlers Danlos Syndrome

History: Ehlers Danlos syndrome (EDS) is a group of inheritable collagen disorders which present with a constellation of clinical features including skin fragility, hyperextensibility, brittle blood vessels, atrophic scarring, and joint hypermobility. While hypermobility disorders were recognised by Hippocrates, the eponymous syndrome was first described by Danish dermatologist Edvard Ehlers and French dermatologist Alexandre Danlos in Paris in 1936.1

Today 13 subtypes of EDS are recognised. The combined prevalence of all EDS variants is estimated at 1 in 5,000 with the hypermobility variant the most common at approximately 1 in 10,000.2, 3 Given EDS is a collagen disorder, involvement of blood vessels, heart valves, internal organs, bone and even sclerae, may present as childhood bleeding diathesis, varicose veins in early adulthood, aneurysmal rupture, cardiac failure, uterine rupture during pregnancy, gastrointestinal dysmotility and perforation, spontaneous pneumothoraces, severe scoliosis and even ocular complications. Fortunately, these are all rare with most catastrophic outcomes occurring in those with the vascular EDS (vDS) variant.