Nugroho Johanes, Gunadi Ruth
Department of Cardiology and Vascular Medicine, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia.
Dr. Soetomo General Hospital, Surabaya, Indonesia.
Case Rep Cardiol. 2021 Nov 20;2021:2563578. doi: 10.1155/2021/2563578. eCollection 2021.
Acute limb ischemia (ALI) is rarely observed in young populations. The hypercoagulable state is a notable cause of ALI other than artery disease progression and cardiac embolization. A hypercoagulable state occurs in essential thrombocytosis because of the overproduction of hematopoietic cells secondary to the mutation of the JAK2, CALR, or MPL genes. We report a rare case of a 37-year-old woman presenting with Rutherford IIA ALI in the left lower extremity. Laboratory data revealed she had a platelet count reaching up to 1.38 mil/L, with other blood profiles being normal. A JAK2 mutation examination was later performed and proved positive. After careful management with catheter-directed thrombolysis, surgical thrombectomy, and cytoreductive therapy using hydroxyurea, the symptoms subsided and eventually restored the patient to physical activity in less than one month.
急性肢体缺血（ALI）在年轻人群中很少见。高凝状态是除动脉疾病进展和心脏栓塞之外导致ALI的一个显著原因。由于JAK2、CALR或MPL基因突变导致造血细胞过度生成，原发性血小板增多症会出现高凝状态。我们报告一例罕见病例，一名37岁女性出现左下肢卢瑟福IIA级ALI。实验室数据显示她的血小板计数高达138万/升，其他血液指标正常。后来进行了JAK2突变检测，结果呈阳性。经过导管定向溶栓、手术取栓以及使用羟基脲进行减细胞治疗的精心处理后，症状消退，最终患者在不到一个月的时间内恢复了体力活动。
