Dipartimento di Medicina Clinica Sperimentale, Policlinico G.B. Rossi, Piazzale Scuro, 37134 Verona, Italy.
Joint Bone Spine. 2010 Jul;77(4):330-4. doi: 10.1016/j.jbspin.2010.02.022. Epub 2010 May 8.
Behcet's disease (BD) may complicate with arterial and venous thrombosis. The purpose of this work is to evaluate in an Italian group of BD patients with thrombotic events a large panel of inherited and acquired thrombophilic factors.
Thirty BD patients, of which nine with previously arterial or venous thrombosis and 21 without, underwent the following investigations: plasma antithrombin activity, protein C activity, free protein S level, sensitivity to APC, total plasma homocysteine concentration, serum folate level, determination of anti-phospholipid antibodies, serum Lp(a) levels, tests for gene polymorphisms of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase genes. Tests for the gene polymorphisms were also performed in a group of healthy control subjects.
All the six patients with arterial or deep venous thrombosis showed thrombophilic conditions such as protein C or protein S deficiency (one case each), hyperhomocysteinemia (two cases), positivity of anti-phospholipid antibodies associated with APC resistance or hyperhomocysteinemia (one case each). Among three subjects with superficial thrombophlebitis only one showed a mild hyperhomocysteinemia. No differences were found between BD patients and control subjects concerning polymorphisms of the genes considered. Among BD patients the Factor V H1299R mutation showed a weak association with venous thrombosis (P=0.048).
In BD patients different concomitant significant thrombophilic risk factors may contribute to the development of thrombotic events. Patients affected by vasculo-Behcet should be evaluated for the presence of coexisting major thrombophilic conditions.
白塞病(BD)可能并发动脉和静脉血栓形成。本研究的目的是评估意大利一组BD 患者伴血栓形成事件时存在的多种遗传性和获得性血栓形成倾向因素。
30 例 BD 患者,其中 9 例之前有动脉或静脉血栓形成,21 例无血栓形成,进行了以下检查:血浆抗凝血酶活性、蛋白 C 活性、游离蛋白 S 水平、对 APC 的敏感性、总血浆同型半胱氨酸浓度、血清叶酸水平、抗磷脂抗体测定、血清 Lp(a)水平、凝血因子 V Leiden、凝血酶原和亚甲基四氢叶酸还原酶基因的多态性检测。还在一组健康对照受试者中进行了基因多态性检测。
6 例有动脉或深静脉血栓形成的患者均存在血栓形成倾向,如蛋白 C 或蛋白 S 缺乏(各 1 例)、高同型半胱氨酸血症(2 例)、抗磷脂抗体阳性伴 APC 抵抗或高同型半胱氨酸血症(各 1 例)。3 例浅表血栓性静脉炎患者中仅 1 例存在轻度高同型半胱氨酸血症。BD 患者与对照组之间考虑的基因多态性无差异。BD 患者中凝血因子 V H1299R 突变与静脉血栓形成有弱相关性(P=0.048)。
在 BD 患者中,不同的同时存在的显著血栓形成倾向因素可能导致血栓形成事件的发生。患有血管白塞病的患者应评估是否存在并存的主要血栓形成倾向。