Division of Hematology-Oncology, Department of Medicine, Penn State Hershey Medical Center, Hershey, PA, USA.; The Pennsylvania State University, College of Medicine, Hershey, PA, USA.
Division of Hematology-Oncology, Department of Medicine, Penn State Hershey Medical Center, Hershey, PA, USA.; The Pennsylvania State University, College of Medicine, Hershey, PA, USA.
Thromb Res. 2019 Oct;182:75-78. doi: 10.1016/j.thromres.2019.07.030. Epub 2019 Aug 1.
Heterozygous Factor V R506Q [Factor V Leiden (FVL)] and prothrombin G20210A (PGM), the most common inherited thrombotic disorders in the Caucasian population, confer a low-moderate risk for first venous thromboembolic (VTE) event. We investigated the thrombotic complications of rare homozygous and compound heterozygous FVL and PGM.
A cohort of patients with homozygous and compound heterozygous FVL and PGM were evaluated at a major referral center in Central Pennsylvania, USA between June 2001 and March 2019. Data including incidence of first and recurrent thrombosis, associated risk factors, family history and demographics were collected.
Seventy-five patients were eligible for analysis: 47 had homozygous FVL, three had homozygous PGM, 19 had compound heterozygous FVL and PGM, five had compound homozygous FVL and heterozygous PGM, and one had compound heterozygous FVL and homozygous PGM. Fifty-nine patients experienced 111 thromboembolic events. Forty-seven percent of first thrombotic events occurred in patients without clinical or surgical conditions predisposing to thrombosis. The rate of recurrent thromboembolism was 59%. The mean time to recurrence was 8.5 years. Ninety percent of recurrent events occurred during times when patients were not treated with anticoagulation.
Persons with homozygous and compound heterozygous FVL and PGM are at a significantly increased risk of first unprovoked and recurrent VTE. Patients with first thromboembolic events should be considered for long-term anticoagulation.
杂合子因子 V R506Q [因子 V 莱顿（FVL）] 和凝血酶原 G20210A（PGM）是白种人群中最常见的遗传性血栓形成疾病，它们导致首次静脉血栓栓塞（VTE）事件的风险低至中度。我们研究了罕见的纯合子和复合杂合子 FVL 和 PGM 的血栓并发症。
在美国宾夕法尼亚州中部的一家主要转诊中心，我们对 2001 年 6 月至 2019 年 3 月期间患有纯合子和复合杂合子 FVL 和 PGM 的患者进行了评估。收集了包括首次和复发性血栓形成的发生率、相关危险因素、家族史和人口统计学数据。
75 名患者符合分析条件：47 名患者为纯合子 FVL，3 名患者为纯合子 PGM，19 名患者为复合杂合子 FVL 和 PGM，5 名患者为复合纯合子 FVL 和杂合子 PGM，1 名患者为复合杂合子 FVL 和纯合子 PGM。59 名患者发生了 111 次血栓栓塞事件。47%的首次血栓形成事件发生在没有导致血栓形成的临床或手术条件的患者中。复发性血栓栓塞的发生率为 59%。复发的平均时间为 8.5 年。90%的复发性事件发生在患者未接受抗凝治疗期间。
纯合子和复合杂合子 FVL 和 PGM 的患者首次发生无诱因和复发性 VTE 的风险显著增加。发生首次血栓栓塞事件的患者应考虑长期抗凝治疗。
