Challenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases

血管型埃勒斯-当洛斯综合征患者管理中的挑战:三个临床病例的经验教训

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Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is one of the most severe heritable connective tissue disorders, caused by pathogenic variants in COL3A1 and characterized by arterial fragility, premature mortality, and a high burden of vascular events. Management remains particularly challenging, requiring careful balance between the risks of intervention and the prevention of catastrophic complications. We present three cases of genetically confirmed vEDS that exemplify the complexity of patient care in this setting. These cases underline the importance of early referral to expert centers, where multidisciplinary care, genetic counseling, and structured follow-up can be guaranteed. They also highlight the central role of therapeutic adherence and long-term surveillance, as interruption of validated medical therapy may lead to life-threatening vascular events. Pharmacological treatment with celiprolol remains the first strategy supported by randomized trial evidence, while recent data suggest that the addition of angiotensin receptor blockers may further reduce vascular risk. Nevertheless, outcomes remain poor, and the prognosis of vEDS continues to be dominated by recurrent arterial complications despite optimal management. Conservative strategies are generally preferred, with invasive interventions reserved for life-threatening circumstances and best performed in specialized centers. These cases underscore both the progress made and the unmet need for novel therapeutic options to improve outcomes in this high-risk population. LEARNING POINTS: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder marked by extreme arterial fragility, requiring high clinical suspicion to avoid misdiagnosis and inappropriate interventions.Strict adherence to evidence-based pharmacological therapy and structured long-term follow-up are crucial, as treatment discontinuation may lead to rapid and life-threatening vascular events.Management should be centralized in expert centres with a multidisciplinary approach, where individualized and predominantly conservative strategies can optimize outcomes in this high-risk population.

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