Portal vein thrombosis due to inherited combined deficiency of protein C and S in a young adult: A case report

Abstract

Protein S and C deficiency is a rare inherited thrombophilia that predisposes individuals to a hypercoagulable state, leading to clot formation in various locations, such as the deep veins of the legs, cerebral veins, and rarely the portal vein. We present the case of a 21-year-old male who came to the ER with hematemesis and melena secondary to chronic portal vein thrombosis (PVT) without any evidence of cirrhosis. Diagnostic investigations, including ultrasonography and computed tomography, confirmed the presence of thrombosis and cavernous transformation of the portal vein, splenic vein thrombosis, and splenomegaly. Coagulation profiling revealed diminished Protein S and C levels, thus confirming the diagnosis of a combined Protein S and C deficiency. Management involved indefinite anticoagulant therapy with direct oral anticoagulants to mitigate thromboembolic risks associated with the inherited thrombophilia. This case underscores the importance of considering rare coagulation disorders in young patients with unexplained thrombotic events, emphasizing the need for a comprehensive diagnostic approach and timely therapeutic interventions to minimize morbidity and mortality.