The vascular type of Ehlers–Danlos syndrome

Abstract

Ehlers–Danlos syndrome (EDS) type IV (vascular type of EDS) is a rare inherited autosomal dominant connective-tissue disorder caused by a mutation in the procollagen III gene (the COL3A1 gene). Patients with this syndrome are prone to rupture of arteries and hollow body organs. Among all types of EDS, type IV involves ~5–10% of cases. Vascular complications may develop in any anatomical region; large and medium-sized arteries are affected most frequently. Typical complications include dissection of the vertebral and carotid arteries at the extra- and intracranial levels, carotid-cavernous fistulas, and aneurysms. The diagnosis is based on major and minor clinical criteria and can be confirmed by laboratory tests: by detecting a quantitative and qualitative disruption of type III collagen synthesis by fibroblast culture or identifying the mutation in the COL3A1 gene. Invasive diagnostic techniques and surgical intervention should be used in case of life-threatening complications. Today, there is no specific technique for treating EDS. Our findings demonstrate that vascular complications in patients with EDS type IV were reduced by using β-blocker celiprolol. Inhibitors of the renin–angiotensin system and the agents lowering the concentration of transforming growth factor-beta open up new prospects for conservative treatment of this pathology and improve the future outlook.