Genetic Testing in the Diagnosis and Treatment of Cerebral venous sinus thrombosis: A Case Report

Background Protein C is a critical anticoagulant glycoprotein, and its deficiency is associated with hypercoagulable states and predisposes individuals to thrombotic events, including Cerebral venous sinus thrombosis (CVST), which often requires long-term anticoagulation. Case presentation: We report a case of a 17-year-old male who presented with headache, nausea, and vomiting. Magnetic resonance imaging (MRI) revealed extensive intracranial venous thrombosis. Hematological tests indicated that protein C was decreased to 41% and genetic testing confirmed a heterozygous A point mutation on exon 7. The patient was placed on anticoagulant therapy and underwent venous thrombectomy. However, postoperative anticoagulation therapy did not prevent the progression of venous thrombosis. The further pharmacogenomic analysis subsequently guided the selection of an appropriate anticoagulant based on Based on efficacy and safety, leading to the improved outcomes. Conclusions This case highlights that symptomatic protein C deficiency requires long-term anticoagulation. Crucially, pharmacogenomic testing can optimize anticoagulant selection, enhancing treatment efficacy in CVST patients with this condition.