Wassef Michel, Blei Francine, Adams Denise, Alomari Ahmad, Baselga Eulalia, Berenstein Alejandro, Burrows Patricia, Frieden Ilona J, Garzon Maria C, Lopez-Gutierrez Juan-Carlos, Lord David J E, Mitchel Sally, Powell Julie, Prendiville Julie, Vikkula Miikka
Assistance Publique-Hopitaux de Paris, Lariboisière Hospital, Department of Pathology, Paris Diderot University, Paris, France;
Vascular Birthmark Program, Lenox Hill Hospital of North Shore Long Island Jewish Healthcare System, New York, New York;
Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8.
Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification. The last classification (1997) stratified vascular lesions into vascular malformations and proliferative vascular lesions (tumors). However, additional disease entities have since been identified that are complex and less easily classified by generic headings, such as capillary malformation, venous malformation, lymphatic malformation, etc. We hereby present the updated official ISSVA classification of vascular anomalies. The general biological scheme of the classification is retained. The section on tumors has been expanded and lists the main recognized vascular tumors, classified as benign, locally aggressive or borderline, and malignant. A list of well-defined diseases is included under each generic heading in the "Simple Vascular Malformations" section. A short definition is added for eponyms. Two new sections were created: one dealing with the malformations of individually named vessels (previously referred to as "truncular" malformations); the second groups lesions of uncertain or debated nature (tumor versus malformation). The known genetic defects underlying vascular anomalies are included in an appendix. This classification is meant to be a framework, acknowledging that it will require modification as new scientific information becomes available.
血管异常涵盖了一系列疾病,从简单的“胎记”到危及生命的病症。患有这些异常的患者常常遭遇命名错误和误诊的情况。准确的诊断对于恰当的评估和管理至关重要,通常需要多学科专家的参与。分类方案提供了一致的术语,并为病理学家、临床医生和研究人员提供指导。国际血管异常研究学会(ISSVA)的目标之一是实现统一分类。上一次分类(1997年)将血管病变分为血管畸形和增殖性血管病变(肿瘤)。然而,此后又发现了其他一些疾病实体,它们较为复杂,难以简单地归类到一般类别中,如毛细血管畸形、静脉畸形、淋巴管畸形等。在此,我们展示ISSVA更新后的血管异常官方分类。分类的总体生物学框架得以保留。肿瘤部分得到了扩充,列出了主要的公认血管肿瘤,并分为良性、局部侵袭性或交界性以及恶性。“简单血管畸形”部分的每个一般类别下都包含了一系列明确的疾病。为以人名命名的疾病添加了简短定义。新增了两个部分:一个处理单个命名血管的畸形(以前称为“主干”畸形);第二个部分将性质不确定或有争议的病变(肿瘤与畸形)归为一组。血管异常潜在的已知遗传缺陷列于附录中。本分类旨在作为一个框架,同时承认随着新科学信息的出现,它需要进行修改。