Vascular Ehlers Danlos syndrome

Radiopaedia • CC-by-nc-sa 3.0 • de

Vascular Ehlers-Danlos syndrome (EDS) or type IV Ehlers-Danlos syndrome (EDS 4) is the most malignant form of Ehlers-Danlos syndrome. This form is often accompanied by neurovascular complications secondary to vessel dissections and/or aneurysms.

Epidemiology

Vascular EDS represents about 4% of all EDS patients .

Pathology

This results from a mutation in the COL3A1 gene coding for type III procollagen which leads to fragility of connective tissues with potential arterial, gastrointestinal and uterine ruptures.

Genetics

This form can carry an autosomal dominant inheritance. However, up to half of the cases can result from spontaneous mutations .