特发性脑静脉血栓形成患者中的高同型半胱氨酸血症及其他新发现的遗传性凝血障碍（因子V莱顿突变和凝血酶原基因突变）

Hyperhomocysteinemia and other newly recognized inherited coagulation disorders (factor V Leiden and prothrombin gene mutation) in patients with idiopathic cerebral vein thrombosis.

作者信息

Ventura Paolo, Cobelli Milena, Marietta Marco, Panini Rossana, Rosa Maria Cristina, Salvioli Gianfranco

机构信息

Department of Internal Medicine, University of Modena and Reggio Emilia, Italy.

出版信息

Cerebrovasc Dis. 2004;17(2-3):153-9. doi: 10.1159/000075784. Epub 2003 Dec 23.

DOI:10.1159/000075784

PMID:14707415

Abstract

BACKGROUND

Idiopathic cerebral vein thrombosis (iCVT) represents approximately 30% of the cases of cerebral vein thrombosis (CVT). New, inherited - factor V Leiden (FVL) and prothrombin gene mutation (PTHRA20210) - and inherited/acquired - hyperhomocysteinemia (HHcy) - prothrombotic conditions have been detected recently.

METHODS

We assessed fasting plasma homocysteine (Hcy) levels and main Hcy determinants, FVL and PTHRA(20210) in 30 patients with documented iCVT and 40 age- and sex-matched healthy subjects.

RESULTS

A strong and significant association of PTHRA(20210) [30% (9/30) vs. 2.5% (1/40) iCVT vs. controls, respectively, p = 0.001; OR = 16.174, p = 0.002] and HHcy [13/30 (43.3%) vs. 4/40 (10%) iCVT vs. controls, respectively; p = 0.002, OR = 6.88, p = 0.002] with iCVT was found.

CONCLUSIONS

PTHRA(20210) and HHcy should be considered when screening for thrombophilia and should be assessed in patients with a family or personal history of CVT.

摘要

背景

特发性脑静脉血栓形成（iCVT）约占脑静脉血栓形成（CVT）病例的30%。最近发现了新的遗传性——因子V莱顿突变（FVL）和凝血酶原基因突变（PTHRA20210）——以及遗传性/获得性——高同型半胱氨酸血症（HHcy）——这些促血栓形成情况。

方法

我们评估了30例确诊为iCVT的患者以及40名年龄和性别匹配的健康受试者的空腹血浆同型半胱氨酸（Hcy）水平及主要Hcy决定因素FVL和PTHRA(20210)。

结果

发现PTHRA(20210) [iCVT组分别为30%（9/30），对照组为2.5%（1/40），p = 0.001；OR = 16.174，p = 0.002]和HHcy [iCVT组分别为13/30（43.3%），对照组为4/40（10%）；p = 0.002，OR = 6.88，p = 0.002]与iCVT之间存在强烈且显著的关联。