Related Experiment Video

Updated: Jan 16, 2026

Author Spotlight: Advancing Cancer Associated Thrombosis Research in Rodent Models
04:40

Author Spotlight: Advancing Cancer Associated Thrombosis Research in Rodent Models

Published on: January 5, 2024

3.1K

Dual Thrombophilic Mutations in Cerebral Venous Sinus Thrombosis: A Case Report Emphasizing Thrombophilia Screening

Yu Sun1, Weijing Liang1, Liqiao Zhao1

  • 1Department of Neurology, Taiyuan Central Hospital, Taiyuan, CHN.

Cureus
|September 30, 2025
PubMed

Cerebral venous sinus thrombosis (CVST), a rare stroke subtype, often involves inherited thrombophilias. We report a 40-year-old man presenting with progressive headache, blurred vision, and elevated intracranial pressure. Magnetic resonance venography confirmed CVST. Thrombophilia screening identified heterozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation and plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphism. These gene polymorphisms have been consistently associated with thrombosis development and prothrombotic states across studies, potentially indicating an underlying inherited thrombophilia in carriers. Initial therapy with anticoagulation (low molecular weight heparin/warfarin) and vitamin B supplementation resolved symptoms. Discontinuation of medication after 12 months resulted in thrombotic recurrence, which was reversed upon resumption of therapy. Serial monitoring showed sustained remission, normalized homocysteine, and therapeutic International Normalized Ratio (INR). This case highlights the synergistic thrombotic risk of coexisting MTHFR C677T and PAI-1 4G/5G variants in CVST, emphasizing the necessity of comprehensive thrombophilia screening to guide lifelong anticoagulation in hereditary hypercoagulable states. Adherence to indefinite therapy is critical to prevent recurrence in such patients.

Keywords:
anticoagulant therapycerebral venous sinus thrombosis (cvst)mthfr c677tpai-1thrombophilia screening

More Related Videos

Electrolytic Inferior Vena Cava Model EIM of Venous Thrombosis06:03

Electrolytic Inferior Vena Cava Model EIM of Venous Thrombosis

Published on: July 12, 2011

17.7K
Point-Of-Care Ultrasound Screening for Proximal Lower Extremity Deep Venous Thrombosis06:45

Point-Of-Care Ultrasound Screening for Proximal Lower Extremity Deep Venous Thrombosis

Published on: February 10, 2023

15.9K

Related Concept Videos

Venous Thrombosis III: Interprofessional Care01:29

Venous Thrombosis III: Interprofessional Care

Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
280
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies01:20

Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies

The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
294
Venous Thrombosis I: Introduction01:30

Venous Thrombosis I: Introduction

Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
373
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
1.7K
Venous Thrombosis IV: Nursing Management01:30

Venous Thrombosis IV: Nursing Management

Nursing management begins with a thorough assessment of the patient's health history. Key factors include trauma to veins, peripherally inserted central catheters, varicose veins, recent pregnancy or childbirth, surgery, bacteremia, prolonged bed rest, atrial fibrillation, COPD, heart failure, cancer, coagulation disorders, myocardial infarction, spinal cord injury, stroke, prolonged travel, recent bone fractures, and dehydration. Review medication intake, particularly oral contraceptives,...
201
Anticoagulant Drugs: Vitamin K Antagonists and Direct Oral Anticoagulants01:18

Anticoagulant Drugs: Vitamin K Antagonists and Direct Oral Anticoagulants

Oral anticoagulants are vital tools in preventing and treating blood clotting disorders. This diverse class of medications can be categorized as vitamin K antagonists, exemplified by warfarin, and direct thrombin inhibitors (DTIs), such as dabigatran, as well as factor Xa inhibitors, including rivaroxaban.
Warfarin, a prominent vitamin K antagonist family member, exerts its effect by inhibiting the enzyme VKORC1 (vitamin K epoxide reductase complex 1). By hindering this enzyme, warfarin...
2.1K