Shyam Tharun, Winn Soe P, Shet Vallabh, Nanda Saumya, Noor Momna, Tamazyan Vahagn, Jindal Palvi S, Kumar Kamlesh, Zatsepina Alina, Peeke Stephen, Astashkevich Mariya
Maimonides Medical Center, United States.
University of Connecticut New Britain Program, United States.
J Community Hosp Intern Med Perspect. 2025 Mar 7;15(2):71-75. doi: 10.55729/2000-9666.1463. eCollection 2025.
Factor VII deficiency (FVIID) is a rare autosomal dominant disorder that occurs in approximately 1 in 500,000 individuals. Paradoxically, 3-4 percent of cases of FVIID result in thrombosis. The etiology behind this clotting predilection is thought to be multifactorial, possibly due to an associated pro-coagulant mutation. We hereby describe a case of FVIID with a heterozygous Factor V Leiden mutation (FVLM) in a patient with bivalvular infective endocarditis undergoing open-heart surgery. This case highlights the complexity of managing patients with concomitant bleeding and thrombotic tendencies, especially in the context of major surgery. We recommend tailoring anticoagulation strategies on a case by case basis to manage these risks.
因子 VII 缺乏症（FVIID）是一种罕见的常染色体显性疾病，发病率约为五十万分之一。矛盾的是，3%-4% 的 FVIID 病例会导致血栓形成。这种凝血倾向背后的病因被认为是多因素的，可能与一种相关的促凝血突变有关。我们在此描述一例患有双瓣膜感染性心内膜炎且正在接受心脏直视手术的患者，该患者存在杂合子因子 V 莱顿突变（FVLM）。此病例凸显了管理同时具有出血和血栓形成倾向患者的复杂性，尤其是在大手术背景下。我们建议根据具体情况定制抗凝策略以管理这些风险。
