Vascular Malformations
(1.2-1.5% of the population)
Venous malformations account for two-thirds of all congenital vascular malformations with an incidence of 1-5 in 10,000 births, and a prevalence of 1%.
静脉畸形占所有先天性血管畸形的三分之二，发病率为1万例新生儿中的1-5例，患病率为1%。【4, 5, 6】
（1）定义区别：
①发病率表示在一定期间内，一定人群中某病新发生的病例出现的频率。
②患病率表示某特定时间内总人口中某病新旧病例之和所占的比例。
（2）计算公式区别：
①发病率=（某时期内某人群中某病新病例人数/同时期内暴露人口数）×K
②患病率=（某时期内某人群中某病新旧病例人数之和/同时期内暴露人口数）×K
K=100%、1000‰、10000/万或100000/10万等。
（3）应用不同
①患病率是由横断面调查获得的疾病频率，通常用来反映病程较长的慢性病的流行情况及其对人群健康的影响程度。
②发病率是由发病报告或队列研究获得的疾病频率，通常用来反映新发生病例的出现情况。（百度）
They may occur anywhere in the body, including the head and neck (40%), extremities (40%), and trunk (20%).
它们可能发生在身体的任何地方，包括头部和颈部（40%）、四肢（40%）和躯干（20%）。【7, 8, 3】
The location and size of venous malformations ranges from superficial asymptomatic varicosities to extensive and disfiguring lesions, and may involve multiple tissue planes, organs, and bones.
静脉畸形的位置和大小从浅表无症状静脉曲张到广泛和毁容性病变，可能涉及多个组织、器官和骨骼。
Present at birth, venous malformations grow in proportion to the child and do not regress.
在出生时，静脉畸形与儿童成比例增长，并没有退化。【3, 9, 10 】
Growth is most pronounced during puberty and pregnancy.
生长在青春期和怀孕期间最为明显。【1, 7, 8, 9, 2】
Venous malformations have no sex predilection, and the age at presentation is typically during early adulthood, though this is largely dependent on the location, size, mass effect on adjacent structures, and associated symptoms.
静脉畸形没有性别倾向，发病年龄通常在成年早期，尽管这很大程度上取决于位置、大小、肿块对邻近结构的影响和相关症状【11】。
Under the 2014 International Society for the Study of Vascular Anomalies (ISSVA) classification system, simple venous malformations may be divided into common venous malformations, familial venous malformation cutaneomucosal (VMCM), blue rubber bleb nevus (Bean) syndrome venous malformation (BRBNS), glomuvenous malformation (GVM), and cerebral cavernous malformations, among others.
根据2014年国际血管异常研究学会(ISSVA)分类系统，简单静脉畸形可分为
常见静脉畸形 common venous malformations, 家族性皮肤粘膜静脉畸形(familial venous malformation cutaneomucosal ，VMCM)，或遗传性皮肤粘膜静脉畸形 蓝色橡胶泡痣(Bean)综合征静脉畸形(BRBNS) 肾小球静脉畸形(GVM) 脑海绵状畸形等。
Although venous malformations are most often sporadic (94%), VMCMs and GVMs are inherited in an autosomal dominant fashion (1%-5%).
虽然静脉畸形最常是散发性的（94%），但VMCMs和GVMs以常染色体显性方式遗传（1%-5%）。【12,13】
The genetic basis for VMCM and BRBN is attributable to a gain-of-function mutation in the TEK gene (chromosome 9p), which encodes the endothelial cell-specific tyrosine kinase receptor TIE2.
VMCM和BRBN的遗传基础可归因于TEK基因(染色体9p)的功能获得突变，该基因编码内皮细胞特异性酪氨酸激酶受体TIE2。
Additionally, 40% of sporadic venous malformations are caused by somatic TEK mutations.
此外，40%的散发性静脉畸形是由体细胞TEK突变引起。
This receptor binds angiopoietins and regulates angiogenesis, cell proliferation, migration, adhesion, and vascular quiescence via the TIE2-PI3K-AKT-mTOR pathway.
该受体通过TIE2-PI3K-AKT-mTOR通路调节血管生成、细胞增殖、迁移、粘附和血管静止。
The overfunctioning of this receptor leads to disorganization of periendothelial cells and aberrant angiogenesis, and may explain the histopathological appearance of venous malformations as dilated venous networks that contain scant, disorganized medial smooth muscle cells.
该受体的过度功能导致内皮周细胞的紊乱和异常的血管生成，这可能解释了静脉畸形的组织病理学表现为扩张的静脉网络，包含少量的、紊乱的内侧平滑肌细胞。
GVMs resemble venous malformations, but are caused by loss-of-function mutations in the glomulin gene (GLMN), which is poorly understood.
GVMs类似于静脉畸形，但它是由血管球蛋白基因(GLMN)的功能缺失突变引起的，这目前尚不清楚。
In vitro studies suggest that the significance of GLMN is related to its function in regulating vascular smooth muscle angiogenesis.
体外研究表明，GLMN的意义与调节血管平滑肌血管生成的功能有关。
Anthony N Hage 1, Jeffrey Forris Beecham Chick 2, Ravi N Srinivasa 1, Jacob J Bundy 1, Nikunj R Chauhan 3, Michael Acord 4, Joseph J Gemmete 5 Treatment of Venous Malformations: The Data, Where We Are, and How It Is Done Review Tech Vasc Interv Radiol . 2018 Jun;21(2):45-54. doi: 10.1053/j.tvir.2018.03.001. Epub 2018 Mar 8.
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