Vascular-like classical Ehlers-Danlos syndrome

Vascular-like classical Ehlers-Danlos syndrome (vascular-like cEDS) is an extremely rare subtype of classical Ehlers-Danlos syndrome that presents with features overlapping both classical and vascular forms of EDS. It is caused by specific mutations in the COL1A1 gene, which encodes the pro-alpha1 chain of type I collagen, a major structural protein found throughout the body. This condition is distinguished from typical classical EDS by the presence of vascular and organ complications — such as arterial rupture, organ rupture, or easy bruising with significant bleeding — that are more commonly associated with vascular EDS (caused by COL3A1 mutations), in addition to the hallmark features of classical EDS including marked skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. The condition affects multiple body systems, including the skin, musculoskeletal system, and cardiovascular system. Patients may experience fragile skin that tears or bruises easily, poor wound healing with characteristic wide atrophic (cigarette-paper) scars, and joint hypermobility that can lead to recurrent dislocations and chronic pain. The vascular complications, which may include spontaneous arterial dissection or rupture, distinguish this subtype and can be life-threatening. Gastrointestinal fragility and organ rupture have also been reported. There is currently no cure for vascular-like classical EDS. Management is supportive and multidisciplinary, focusing on surveillance for vascular complications, skin and wound care, joint protection, physical therapy, and avoidance of activities or procedures that may increase the risk of vascular or tissue injury. Patients benefit from regular cardiovascular monitoring, and surgical interventions should be approached with caution due to tissue fragility. Genetic counseling is recommended for affected individuals and their families.

Common questions about Vascular-like classical Ehlers-Danlos syndrome