Benyamna Ilham, El Fissi Houda, Bouzid Fadoua, El Mousadik Abdelhamid, Alif Najat
Department of Cardiology and Internal Medicine, Inezgane Provincial Hospital, Agadir, Morocco.
Laboratory of Biotechnologies and valorization of Natural Resources, Biology Department, Faculty of Sciences, Ibn Zohr University, Agadir, Morocco.
Biomedicine (Taipei). 2024 Mar 1;14(1):60-63. doi: 10.37796/2211-8039.1434. eCollection 2024.
Complete resistance to vitamin K antagonists is a rare but serious condition. It can complicate therapeutic management, especially when direct oral anticoagulants cannot be used. Some single mutations in the VKORC1 gene have been identified in patients partially or completely resistant to vitamin K antagonists. We report the cases of two women in their fifties who presented an unexplained peripheral venous thrombosis. The aetiological assessment did not show any abnormalities. Genetic testing showed that both patients had the VKORC1 5417 GG genotype. The VKORC1 3673 genotype was GG in case 1 and GA in case 2. The two patients showed complete resistance to vitamin K antagonists which required a change in treatment with favourable outcomes. Our goal is to offer optimal care guided by a literature review.
对维生素K拮抗剂完全耐药是一种罕见但严重的情况。它会使治疗管理复杂化,尤其是在无法使用直接口服抗凝剂时。在对维生素K拮抗剂部分或完全耐药的患者中,已鉴定出VKORC1基因的一些单基因突变。我们报告了两名五十多岁女性出现不明原因外周静脉血栓形成的病例。病因评估未显示任何异常。基因检测表明,两名患者均具有VKORC1 5417 GG基因型。病例1的VKORC1 3673基因型为GG,病例2为GA。两名患者对维生素K拮抗剂均表现出完全耐药,这需要改变治疗方法并取得了良好效果。我们的目标是通过文献综述提供最佳护理。