A contemporary review of the diagnosis and management of vascular Ehlers–Danlos syndrome

Abstract

Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is a connective tissue disorder weakening the vasculature. There is a perceived lack of awareness within the medical fraternity on this condition. This paper reviews contemporary evidence to enhance the understanding of this complex condition. Methods: A systematic review was performed. Inclusion criteria were studies in humans with a minimum of five patients. Exclusion criteria were laboratory or animal-based studies, reviews and studies not in English. A total of 115 papers were assessed with articles grouped into four categories: diagnosis, natural history, medical and surgery therapy. Results: The Villefranche criteria have a high sensitivity/negative predictive value for diagnosing EDS. Assessment of skin architecture/radiological investigation of large vessels can facilitate diagnosis. Genetic testing is available for the pathogenic COL3A1 variant. With regard to natural history, an overall review of 1,400 patients showed that age at diagnosis ranged from 4 to 40 years, age of death ranged from 28 to 54 years and vascular complications were frequent. The key medical therapy is celiprolol, which is associated with a reduction in arterial events three times greater with treatment than without. Non-operative therapy/non-invasive imaging techniques are suggested to be used when possible. Vessel reconstruction is possible but fragile tissue makes this challenging and endovascular interventions are ideally suited for the treatment of false aneurysms. There is a high rate of procedure-related complications (early and late). Conclusions: The poor natural history of vEDS means that accurate diagnosis is key to allow extension of complication-free periods. Vascular interventions are associated with high complication rates