Diagnosis and management of superficial arteriovenous malformations: French healthcare network's recommendations.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY Orphanet Journal of Rare Diseases Pub Date : 2025-01-30 DOI:10.1186/s13023-024-03413-5

Olivia Boccara, Didier Salvan, Claude Laurian, Caroline Degrugillier-Chopinet, Nathalie Degardin, Jean-Guillaume Dillinger, Julie Malloizel-Delaunay, Stéphane Mouton, Stéphane Munck, Annabel Maruani, Annouk Bisdorff-Bresson

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Abstract

Superficial arteriovenous malformations are rare fast-flow lesions. They consist of arteriovenous shunts, without cellular hyperplasia or proliferation, which develop in the surrounding tissues (cutaneous, subcutaneous, muscular, bone). Although benign, they are among the most severe of superficial malformations. Their evolution can be life-threatening in exceptional cases. With the aim of optimizing diagnosis and management worldwide, this protocol offers a state of the art for the diagnosis and management of these diseases. To this end, the French healthcare network specialized in these diseases have drawn on literature data and experience. Developed from the French National Diagnosis and Care Protocol, it presents the patient journeys for initial and differential diagnoses, and personalized therapeutic strategies. This requires a multidisciplinary team, with specialized professionals in handling genetic, treatment and psychosocial issues.

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浅表动静脉畸形的诊断和治疗：法国医疗网络的建议。

浅表动静脉畸形是罕见的快血流病变。它们由动静脉分流组成，没有周围组织（皮肤、皮下、肌肉、骨骼）的细胞增生或增殖。虽然是良性的，但却是最严重的浅表畸形之一。在特殊情况下，它们的进化可能会危及生命。为了优化全球范围内的诊断和管理，本协议为这些疾病的诊断和管理提供了最先进的技术。为此，专门从事这些疾病的法国医疗保健网络借鉴了文献数据和经验。从法国国家诊断和护理协议的发展，它提出了初步和鉴别诊断的病人旅程，以及个性化的治疗策略。这需要一个多学科团队，由处理遗传、治疗和社会心理问题的专业人员组成。

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.