Background Thrombophilia is the tendency to thrombosis due to various acquired or genetic factors. Genetic thrombophilia refers to thromboembolism as a result of mutations in physiological anticoagulant or procoagulant genes, where persistent elevated factor VIII (FVIII) levels are also a common genetic factor in high thrombotic propensity. STAB2 variants can lead to increased plasma levels of the von Willebrand Factor (VWF) and/or its binding partner the coagulation cofactor factor FVIII. Nevertheless, venous thromboembolism has been the main clinical manifestation of STAB2 gene variants. In this paper, we report an interesting case in which a young armed police officer suffering from a STAB2 gene variant presented with acute myocardial infarction and pulmonary embolism. Case presentation A young armed police officer underwent emergency percutaneous coronary intervention(PCI) for ST-segment elevation myocardial infarction(STEMI) and his pulmonary image indicated pulmonary embolism. After thrombophilia testing, the diagnosis of arteriovenous thrombosis due to the STAB2 gene mutation and smoking was finally confirmed. Conclusion The STAB2 gene variant can manifest as venous and acute arterial thromboembolism. Young patients with unexplained arteriovenous thrombosis should undergo rigorous laboratory tests and related genetic screening of thrombophilia. While other arteriovenous thromboses should be excluded and antithrombotic therapy initiated promptly.
