Chu Andrew, Aung Thu Thu, Arumugam Minni Shreya, Danckers Mauricio, Mitiek Mohi, Leslie Jonathan
Internal Medicine Residency Department, Aventura Hospital and Medical Center, 20900 Biscayne Boulevard, Aventura, FL 33190, USA.
Internal Medicine Residency Department, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA.
Case Rep Hematol. 2018 Sep 27;2018:9098604. doi: 10.1155/2018/9098604. eCollection 2018.
Factor V Leiden (FVL) is an autosomal dominant condition resulting in thrombophilia. Factor V normally acts as a cofactor for prothrombinase, helping cleave prothrombin to thrombin. A single point mutation in it disrupts factor V, making it unreceptive to protein C and increasing the risk of thrombosis. FVL mutation associated with right heart thrombus is a rare entity. Right heart thrombus or right heart thrombus-in-transit is associated with high mortality. We present a 51-year-old male with a past medical history of FVL homozygous mutation and recurrent blood clots, who has failed multiple different oral anticoagulants. He presented to the hospital with symptoms of shortness of breath and subsequently found to have a giant right heart thrombus. He was treated with surgical embolectomy. This case underscores the challenges faced by patients with FVL and recurrent blood clots.
莱顿V因子（FVL）是一种导致血栓形成倾向的常染色体显性遗传病。V因子通常作为凝血酶原酶的辅因子，帮助将凝血酶原裂解为凝血酶。其中的一个单点突变会破坏V因子，使其对蛋白C不敏感，并增加血栓形成的风险。与右心血栓相关的FVL突变是一种罕见情况。右心血栓或移动性右心血栓与高死亡率相关。我们报告一名51岁男性，有FVL纯合突变和复发性血凝块的既往病史，他对多种不同的口服抗凝剂治疗均无效。他因呼吸急促症状入院，随后被发现有巨大的右心血栓。他接受了手术取栓治疗。该病例突显了FVL和复发性血凝块患者所面临的挑战。
