Extensive thrombosis revealing a Leinden factor mutation

Youssef Bouktib1, Ayoub El Hajjami1, Badr Boutakioute1

  • 1Department of radiology Arrazi, Mohammed VI University Hospital, Marrakesh, Morocco.

Factor V Leiden (FVL) mutation is the most common hereditary thrombophilia and a well-established predisposing factor for venous thromboembolism, while its role in arterial thrombosis remains incompletely understood. We report the case of a 30-year-old postpartum woman who presented with extensive multifocal thromboembolic disease, including bilateral pulmonary embolism, renal infarction, left ventricular apical thrombus in the setting of peripartum cardiomyopathy (LVEF 20%), and acute ischemic stroke-all attributed to an underlying heterozygous Factor V Leiden mutation confirmed by PCR. Multimodality imaging, including CT pulmonary angiography, transthoracic echocardiography, and brain MRI, was central to establishing the full extent of thromboembolic disease and guiding anticoagulation therapy. This case highlights the pivotal role of imaging in diagnosing multifocal thromboembolism and underscores the importance of systematic thrombophilia workup in young patients presenting with unexplained or extensive thrombotic events, particularly in the postpartum period.

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