Ageno Walter, Dentali Francesco, De Stefano Valerio, Barco Stefano, Lerede Teresa, Bazzan Mario, Piana Antonietta, Santoro Rita, Duce Rita, Poli Daniela, Martinelli Ida, Siragusa Sergio, Barillari Giovanni, Cattaneo Marco, Vidili Gianpaolo, Carpenedo Monica, Rancan Elena, Giaretta Ilaria, Tosetto Alberto
Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
Thromb Res. 2014 Jun;133(6):1052-5. doi: 10.1016/j.thromres.2014.03.044. Epub 2014 Apr 1.
Splanchnic vein thrombosis (SVT) is a serious complication in patients with paroxysmal nocturnal hemoglobinuria (PNH). Mutant PNH clones can be associated with an increased risk of SVT even in the absence of overt disease, but their prevalence in non-selected SVT patients remains unknown.
Patients with objective diagnosis of SVT and without known PNH were tested for the presence of PNH clone using high-sensitivity flow cytometric analysis.
A total of 202 SVT patients were eligible, 58.4% were males, mean age was 54.6years (range 17-94), site of thrombosis was portal in 103 patients, mesenteric in 67, splenic in 37, and supra-hepatic in 10. SVT was associated with JAK2 V6167F in 28 of 126 (22.2%) screened patients, liver cirrhosis in 15.3% patients, recent surgery in 10.9%, and myeloproliferative neoplasm in 10.6%, whereas in 34.6% of patients neither permanent nor transient risk factors were detected. None of the patients had a clearly demonstrable PNH clone, but in two patients (0.99%, 95% CI 0.17-3.91) we observed very small PNH clones (size 0.014% and 0.16%) confirmed in two independent samples. One patient had portal vein thrombosis and no associated risk factors, the second had superior mesenteric vein thrombosis and inflammatory bowel disease.
Very small PNH clones can be detected in patients with SVT and no clinical manifestations of disease. Future studies are needed to explore the potential role of this finding in the pathogenesis of SVT.
内脏静脉血栓形成（SVT）是阵发性夜间血红蛋白尿（PNH）患者的一种严重并发症。即使在没有明显疾病的情况下，突变的PNH克隆也可能与SVT风险增加有关，但其在未选择的SVT患者中的患病率仍然未知。
对客观诊断为SVT且无已知PNH的患者，使用高灵敏度流式细胞术分析检测PNH克隆的存在。
共有202例SVT患者符合条件，其中58.4%为男性，平均年龄54.6岁（范围17 - 94岁），血栓形成部位为门静脉103例、肠系膜静脉67例、脾静脉37例、肝上静脉10例。在126例筛查患者中，28例（22.2%）的SVT与JAK2 V6167F相关，15.3%的患者与肝硬化相关，10.9%与近期手术相关，10.6%与骨髓增殖性肿瘤相关，而34.6%的患者未检测到永久性或暂时性危险因素。所有患者均未检测到明确的PNH克隆，但在两名患者（0.99%，95%CI 0.17 - 3.91）中，我们在两个独立样本中观察到非常小的PNH克隆（大小分别为0.014%和0.16%）。一名患者有门静脉血栓形成且无相关危险因素，另一名患者有肠系膜上静脉血栓形成和炎症性肠病。
在无疾病临床表现的SVT患者中可检测到非常小的PNH克隆。未来需要进一步研究探索这一发现在SVT发病机制中的潜在作用。
