Goldstein Gal, Maor Jacob, Kleinbaum Yeruham, Palumbo Michal, Sidi Yehezkel, Salomon Ophira
aPediatric Hemato-Oncology and Bone Marrow Transplantation, The Edmond and Lily Safra Children Hospital bDepartment of Gastroenterology cDepartment of Diagnostic Imaging dDepartment of Internal Medicine C eThe Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Blood Coagul Fibrinolysis. 2013 Dec;24(8):848-53. doi: 10.1097/MBC.0b013e328364b9e6.
Polycythemia vera is a Philadelphia chromosome-negative myeloproliferative disorder with incidence of 1% under the age of 25. The Budd-Chiari syndrome (BCS) is a well known complication of polycythemia vera even in children, and characterized by occlusion of hepatic outflow. A computerized archive search of medical records at Sheba Medical Center of the past three decades of patients with polycythemia vera and BCS under the age of 25 years was performed. A work-up for JAK2 V617F mutation and thrombophilia was done. Medical charts and imaging tests were carefully reviewed. Three patients under the age of 22 were finally recruited. Two of those were found in life-threatening condition and improved clinically following treatment with bivalirudin, a direct thrombin inhibitor. It is conceivable that bivalirudin contributed to a favorable outcome of those patients in comparison to historical outcome previously reported. In conclusion, polycythemia vera in the young is not a mild disease since BCS, which is one of its complication, can be fatal even in those age group unrelated to the presence of hereditary thrombophilia. Once BCS occurs, we would suggest giving a trial with bivalirudin before an invasive procedure is planned.
真性红细胞增多症是一种费城染色体阴性的骨髓增殖性疾病，25岁以下人群的发病率为1%。布加综合征（BCS）是真性红细胞增多症一种广为人知的并发症，即使在儿童中也有发生，其特征是肝静脉流出道阻塞。我们对Sheba医疗中心过去三十年里25岁以下患有真性红细胞增多症和布加综合征的患者的病历进行了计算机存档检索。对JAK2 V617F突变和易栓症进行了检查。仔细查阅了病历和影像学检查结果。最终招募了3名22岁以下的患者。其中两名患者处于危及生命的状态，在使用直接凝血酶抑制剂比伐芦定治疗后临床症状有所改善。可以想象，与先前报道的历史结果相比，比伐芦定有助于这些患者获得良好的治疗效果。总之，年轻人的真性红细胞增多症并非轻症疾病，因为其并发症之一布加综合征即使在与遗传性易栓症无关的年龄组中也可能致命。一旦发生布加综合征，我们建议在计划进行侵入性手术前试用比伐芦定。
