Sayed Wafaa S, Al-Bayati Aws, Elzubair Lina G, Mohamed Sherif, Alharthi Mueed
Clinical Pathology, Aswan University Hospital, Aswan, EGY.
Clinical Pathology, Khamis Mushait General Hospital, Khamis Mushait, SAU.
Cureus. 2024 Nov 25;16(11):e74401. doi: 10.7759/cureus.74401. eCollection 2024 Nov.
Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs). However, little is known about whether inherited thrombophilia represents an additive risk factor in mutated subjects. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs. Methods We studied 60 patients with MPDs, 32 with polycythemia vera (PV), 24 with essential thrombocythemia (ET), and four with primary myelofibrosis (PMF). All patients were examined for JAK2 V617F and FVL mutations. Results The study included 50 (83.3%) males and 10 (16.7%) females, with a mean age of 44.23 ± 11.32 years. JAK2 was found positive among all (100%) of the studied patients. Thirty-eight patients out of 60 (63.3%) had thrombotic events. FVL was found positive in 12 (20%) patients. The patients with JAK2 and FVL mutations had a higher incidence of thrombotic events (11/38, 28.9%) than those with JAK2 but without FVL mutations (1/22, 4.5%). The relative risk ratios for increased risk for having thrombotic events were 2.1 (95% confidence interval (95% CI): 1.2-3.8, p=0.03) and 4.3 (95% CI: 2.1-9.5, p<0.001) for patients with mutations alone, and those with both JAK2 and FVL mutations, respectively. Conclusions In the present study of patients with MPDs from Saudi Arabia, JAK2 mutations were found among all the studied patients, and FVL mutations were encountered in 20% of patients. The patients with both JAK2 and FVL mutations had a higher incidence of thrombotic events than those with JAK2 but without FVL mutations. The relative risk ratios for increased risk for thrombotic events among patients with MPDs were 2.1 and 4.3 for patients with JAK2 mutations alone and those with JAK2 and FVL mutations, respectively. Further larger prospective studies are warranted.
Janus激酶2（JAK2）V617F突变与骨髓增殖性疾病（MPD）患者血栓形成风险增加相关。然而，关于遗传性血栓形成倾向是否是突变患者的一个附加风险因素，人们知之甚少。我们探讨了沙特阿拉伯MPD患者中JAK2和凝血因子V莱顿（FVL）联合突变与血栓形成并发症之间的关联。方法：我们研究了60例MPD患者，其中32例真性红细胞增多症（PV），24例原发性血小板增多症（ET），4例原发性骨髓纤维化（PMF）。所有患者均检测JAK2 V617F和FVL突变。结果：该研究包括50例（83.3%）男性和10例（16.7%）女性，平均年龄44.23±11.32岁。所有（100%）研究患者JAK2均呈阳性。60例患者中有38例（63.3%）发生血栓事件。12例（20%）患者FVL呈阳性。JAK2和FVL突变患者的血栓形成事件发生率（11/38，28.9%）高于JAK2阳性但FVL未突变患者（1/22，4.5%）。单独JAK2突变患者和JAK2与FVL均突变患者发生血栓形成事件风险增加的相对风险比分别为2.1（95%置信区间（95%CI）：1.2 - 3.8，p = 0.03）和4.3（95%CI：2.1 - 9.5，p < 0.001）。结论：在本项针对沙特阿拉伯MPD患者的研究中，所有研究患者均发现JAK2突变，20%的患者存在FVL突变。JAK2和FVL均突变患者的血栓形成事件发生率高于JAK2阳性但FVL未突变患者。MPD患者中单独JAK2突变患者和JAK2与FVL均突变患者发生血栓形成事件风险增加的相对风险比分别为2.1和4.3。有必要开展进一步更大规模的前瞻性研究。
