DOI: 10.12890/2025_005837

Challenges in the management of patients with vascular Ehlers-Danlos syndrome: lessons from three clinical cases

Authors

  • Lara Alayasa Al-Quds University, Faculty of Medicine, Abu Dis, Palestine
  • Razan Fiala Al-Quds University, Faculty of Medicine, Abu Dis, Palestine
  • Adriana Skafi Al-Quds University, Faculty of Medicine, Abu Dis, Palestine
  • Tala Sulaiman Al-Quds University, Faculty of Medicine, Abu Dis, Palestine
  • Matteo Lemoli Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Italy
  • Giacomo Buso Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Italy
  • Maria Lorenza Muiesan Department of Clinical and Experimental Sciences, Division of Internal Medicine, ASST Spedali Civili Brescia, University of Brescia, Brescia, Italy

marialorenza.muiesan@unibs.it

Keywords

Vascular Ehlers-Danlos syndrome, multidisciplinary management, therapeutic adherence, celiprolol, long-term surveillance

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.

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References

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Published

2025-12-04

Issue

Vol. 12 No. 12 (2025)

Categories

How to Cite

1.
Alayasa L, Fiala R, Skafi A, Sulaiman T, Lemoli M, Buso G, et al. Challenges in the management of patients with vascular Ehlers-Danlos syndrome: lessons from three clinical cases. EJCRIM [Internet]. 2025 Dec. 4 [cited 2026 Nov. 3];12(12). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5837

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