Splanchnic vein thrombosis is an uncommon life-threatening form of venous thrombosis. It is one the common complication among MPN’s. In the western studies the prevalence of JAK2V617F mutation among SVT patient is high and ranges from 7 to 59%. The frequency of this mutation among Indian SVT patients is heterogenous. This was a prospective case control study. A total 52 cases of SVT and 40 controls were screened for JAK2V617F mutation along with other routine thrombophilic risk factors. Out of total 52 cases, 10 had BCS, 2 had MVT and rest 40 were of PVT/EHPVO. The JAK2V617F mutation was seen in two cases and not in controls. Among the thrombophilic markers, heterozygous FVL mutation, PC, PS and presence of APA were seen in 2, 3, 1 and 3 cases respectively. In addition, eight cases also showed deranged risk factors (5 inherited and 3 acquired), however the repeat testing was not performed due to loss of follow up. Among controls, one person showed presence of APA and one person showed multiple thrombophilic risk factor deficiency. JAK2V617F mutation was observed in 3.8% among north Indian SVT patients. The frequency of mutation is on the lower side as compared to the available Indian data. The other thrombophilia markers (both inherited and acquired) are more frequent (18%) and patients should be routinely screened for these thrombophilia markers.

中文翻译：

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内脏静脉血栓形成患者的 JAK2V617F 突变

内脏静脉血栓形成是一种罕见的危及生命的静脉血栓形成。这是 MPN 中常见的并发症之一。在西方研究中，SVT 患者 JAK2V617F 突变的患病率很高，范围从 7% 到 59%。这种突变在印度 SVT 患者中的频率是异质的。这是一项前瞻性病例对照研究。共筛查了 52 例 SVT 和 40 例对照患者的 JAK2V617F 突变以及其他常规血栓形成危险因素。在总共 52 例中，10 例为 BCS，2 例为 MVT，其余 40 例为 PVT/EHPVO。JAK2V617F 突变出现在两个病例中，而不是在对照中。在易栓标志物中，杂合的 FVL 突变、PC、PS 和 APA 的存在分别见于 2、3、1 和 3 例。此外，8例还表现出精神错乱的危险因素（5个遗传性和3个获得性），然而，由于失去随访，没有进行重复测试。在对照组中，1 人表现出 APA 的存在，1 人表现出多种血栓形成危险因素缺乏。在北印度 SVT 患者中观察到 JAK2V617F 突变的发生率为 3.8%。与可用的印度数据相比，突变频率较低。其他易栓症标志物（遗传性和获得性）更常见（18%），患者应定期筛查这些易栓症标志物。与可用的印度数据相比，突变频率较低。其他易栓症标志物（遗传性和获得性）更常见（18%），患者应定期筛查这些易栓症标志物。与可用的印度数据相比，突变频率较低。其他易栓症标志物（遗传性和获得性）更常见（18%），患者应定期筛查这些易栓症标志物。