Schönherr Laura, Wipper Sabine, von Kodolitsch Yskert
University Hospital for Vascular Surgery Anichstr. 35 6020 Innsbruck Austria.
University Heart & Vascular Center Hamburg Martinistr. 52 20246 Hamburg Germany.
Med Genet. 2024 Dec 3;36(4):255-259. doi: 10.1515/medgen-2024-2053. eCollection 2024 Dec.
The monogenic Ehlers - Danlos syndromes (EDS) constitute a clinically and genetically heterogenous group of connective tissue disorders with overlapping features of generalized joint hypermobility, skin hyperextensibility and tissue fragility. Vascular complications can be observed in several EDS types, but generalized tissue fragility resulting in significant increased risk on vascular events from a young age are a major clinical characteristic of vascular Ehlers - Danlos (vEDS, former Type IV). This is a rare, monogenic EDS type, with a suspected prevalence of 1:50 000. Even though progress regarding awareness and management of vEDS has been made, further studies are needed regarding optimal treatment and follow up. In this manuscript we present the perspective of a vascular surgeon regarding the current literature to management and treatment options for vascular complications in vEDS.
单基因埃勒斯-当洛综合征（EDS）是一组临床和遗传异质性的结缔组织疾病，具有全身关节活动过度、皮肤过度伸展和组织脆弱等重叠特征。几种EDS类型可观察到血管并发症，但从年轻时起就导致血管事件风险显著增加的全身性组织脆弱是血管性埃勒斯-当洛综合征（vEDS，以前的IV型）的主要临床特征。这是一种罕见的单基因EDS类型，疑似患病率为1:50000。尽管在vEDS的认识和管理方面已取得进展，但仍需要进一步研究最佳治疗方法和随访措施。在本手稿中，我们介绍了一位血管外科医生对vEDS血管并发症的当前管理和治疗选择文献的观点。
