The vascular type of Ehlers–Danlos syndrome

Abstract

EhlersDanlos syndrome (EDS) type IV (vascular type of EDS)is a rare inherited autosomal dominant connective-tissue disordercaused by a mutation in the procollagen III gene (the COL3A1gene). Patients with this syndrome are prone to rupture of arteriesand hollow body organs. Among all types of EDS, type IV involves~510% of cases. Vascular complications may develop in anyanatomical region; large and medium-sized arteries are affectedmost frequently. Typical complications include dissection of thevertebral and carotid arteries at the extra- and intracranial levels,carotid-cavernous fistulas, and aneurysms. The diagnosis is basedon major and minor clinical criteria and can be confirmed by laboratorytests: by detecting a quantitative and qualitative disruptionof type III collagen synthesis by fibroblast culture or identifyingthe mutation in the COL3A1 gene. Invasive diagnostic techniquesand surgical intervention should be used in case of life-threatening complications. Today, there is no specific technique for treatingEDS. Our findings demonstrate that vascular complications in patientswith EDS type IV were reduced by using -blocker celiprolol. Inhibitors of the reninangiotensin system and the agents loweringthe concentration of transforming growth factor-beta openup new prospects for conservative treatment of this pathology andimprove the future outlook.

Keywords

• ehlers–danlos syndrome type iv
• vascular type
• col3a1 gene
• mutation
• dissection
• aneurysm