Makoto Ikejiri, Usui Masanobu, Wada Hideo, Matsumoto Takeshi, Ohishi Kohshi, Shindo Akihiro, Yamashita Yoshiki, Nakatani Kaname, Tamaki Shigehisa, Tomimoto Hidekazu, Isaji Shuji
1 Central Laboratory, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
2 Hepatobiliary Pancreatic and Transplant Surgery, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Clin Appl Thromb Hemost. 2018 Oct;24(7):1117-1121. doi: 10.1177/1076029618774146. Epub 2018 May 10.
We explored the relationship between abdominal vein thromboses, including portal vein thrombosis (PVT) and superior mesenteric vein thrombosis (SMVT), and thrombophilia. The frequency of thrombophilia, such as antithrombin (AT), protein C (PC), or protein S (PS) gene mutations, was examined in 21 patients with PVT, 6 patients with SMVT, and 6 patients with both PVT and SMVT. Low levels of AT, PC, or PS were frequently detected in patients with PVT or mesenteric vein thrombosis, and 4 mutations in the PS gene, 3 mutations in the PC gene, and 2 mutations in AT the gene were detected. Protein S Tokushima was detected in 3 of 4 patients with a PS gene mutation and was associated with 2 other PS gene mutations. The onset of PVT or SMVT was almost idiopathic in patients with congenital thrombophilia. Both PVT and SMVT were frequently caused by an AT, a PC, or a PS mutation, and the onset of these thromboses due to thrombophilia was frequently idiopathic.
我们探究了腹部静脉血栓形成(包括门静脉血栓形成(PVT)和肠系膜上静脉血栓形成(SMVT))与易栓症之间的关系。我们检测了21例PVT患者、6例SMVT患者以及6例同时患有PVT和SMVT的患者中抗凝血酶(AT)、蛋白C(PC)或蛋白S(PS)基因突变等易栓症的发生频率。在PVT或肠系膜静脉血栓形成患者中经常检测到低水平的AT、PC或PS,并且检测到4例PS基因突变、3例PC基因突变以及2例AT基因突变。在4例PS基因突变患者中的3例检测到德岛蛋白S,并且该蛋白与另外2例PS基因突变相关。先天性易栓症患者中PVT或SMVT的发病几乎都是特发性的。PVT和SMVT均常由AT、PC或PS突变引起,并且这些因易栓症导致的血栓形成的发病常常是特发性的。