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静脉畸形骨肥大综合征：临床表现、诊断与治疗

Authors
Ilona J Frieden, MD
Derek H Chu, MD
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc
Translators
梁卫, 副主任医师

引言

静脉畸形骨肥大综合征(Klippel-Trenaunay syndrome, KTS)是一种复杂的先天性疾病，其特征是典型的三联征(毛细血管畸形、静脉畸形和肢体过度生长)，伴或不伴淋巴管畸形[1]。在传统上，许多不同的疾病与KTS这个名称混为一谈，包括Parkes Weber综合征和新报道的“弥漫性毛细血管畸形伴过度生长”(diffuse capillary malformation with overgrowth, DCMO)[2]，但对表型更清晰的描述和新兴基因型检查有助于KTS与这些其他疾病的鉴别。基于在KTS患者中磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α(phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit alpha, <14PIK3CA)基因镶嵌激活突变的识别，一些作者提出，KTS不作为一个独立的诊断性疾病，而是作为PIK3CA相关过度生长系列病症(PIK3CA-related overgrowth spectrum, PROS)中的一员[3,4]。

本专题将讨论KTS。毛细血管畸形及相关过度生长综合征的诊断和治疗将单独讨论。 (参见“毛细血管畸形(葡萄酒色斑)：临床特征，诊断和相关综合征”和“PTEN hamartoma tumor syndrome, including Cowden syndrome”)

流行病学

KTS罕见，其发病率和患病率未知，且没有明显的种族和性别倾向。

分类

历史上，专家采用了许多不同的定义来描述KTS。“Klippel-Trenaunay-Weber”这个术语曾用于描述伴动静脉瘘的KTS患者的特征，当时的这个术语事实上就是目前称作Parkes Weber综合征的这个不同的疾病。

一些专家学者将KTS定义为存在3个主要特征中的任意2个：毛细血管畸形、软组织或骨肥大，以及静脉曲张或静脉畸形[5]。我们将使用2014年更新的国际脉管性疾病研究学会(International Society for the Study of Vascular Anomalies, ISSVA)的分类标准，该学会将KTS定义为毛细血管畸形、静脉畸形和肢体过度生长联合表现，伴或不伴淋巴管畸形[1]。然而，我们认识到过去许多诊断为不伴淋巴管受累的KTS的较轻度疾病更适合诊断为DCMO[2]。

                                         

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Literature review current through: 2017-06 . | This topic last updated: 2016-07-14.
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