Kumar Narender, Sharma Saniya, Binota Jogeshwar, Ahluwalia Jasmina, Varma Neelam, Naseem Shano, Chand Ishwar, Uppal Varun, Sinha Saroj K
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012 India.
Department of Gastroenterology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, 160012 India.
Indian J Hematol Blood Transfus. 2020 Oct;36(4):700-704. doi: 10.1007/s12288-020-01292-x. Epub 2020 May 25.
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.
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形式。它是骨髓增殖性肿瘤（MPN）常见的并发症之一。在西方研究中，内脏静脉血栓形成（SVT）患者中JAK2V617F突变的患病率很高，范围在7%至59%之间。印度SVT患者中这种突变的频率存在异质性。这是一项前瞻性病例对照研究。总共对52例SVT患者和40例对照进行了JAK2V617F突变以及其他常规血栓形成倾向风险因素的筛查。在总共52例病例中，10例患有布加综合征（BCS），2例患有肠系膜静脉血栓形成（MVT），其余40例为门静脉血栓形成/肝外门静脉阻塞（PVT/EHPVO）。在2例病例中发现了JAK2V617F突变，而对照中未发现。在血栓形成倾向标志物中，杂合子因子V Leiden（FVL）突变、蛋白C（PC）、蛋白S（PS）和抗磷脂抗体（APA）分别在2例、3例、1例和3例病例中出现。此外，8例还显示有异常的风险因素（5例为遗传性，3例为后天获得性），然而由于失访未进行重复检测。在对照中，1人显示存在APA，1人显示多种血栓形成倾向风险因素缺乏。在北印度SVT患者中，JAK2V617F突变的发生率为3.8%。与现有的印度数据相比，突变频率较低。其他血栓形成倾向标志物（包括遗传性和后天获得性）更为常见（18%），因此应对患者进行这些血栓形成倾向标志物的常规筛查。
