Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.

IF 1.4 4区生物学

Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI:10.1515/medgen-2024-2053

Laura Schönherr, Sabine Wipper, Yskert von Kodolitsch

引用次数: 0

Abstract

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.

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血管Ehlers - Danlos综合征的诊断和血管并发症的处理：血管外科医生的观点。

单基因Ehlers - Danlos综合征（EDS）是一种临床和遗传异质性的结缔组织疾病，具有广泛性关节过度活动、皮肤过度伸展和组织脆弱的重叠特征。血管性Ehlers - Danlos （vEDS，前IV型）的主要临床特征是在多种EDS类型中都可以观察到血管并发症，但从年轻时开始，广泛的组织脆弱性导致血管事件风险显著增加。这是一种罕见的单基因EDS型，疑似患病率为1:50 000。尽管在认识和管理vEDS方面取得了进展，但需要进一步研究最佳治疗和随访。在这篇手稿中，我们提出了一个血管外科医生的观点，就目前的文献管理和治疗选择血管并发症的vEDS。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medizinische Genetik GENETICS & HEREDITY-

自引率

9.10%

发文量

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.