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

IF 3.4 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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引用次数: 0

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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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.