Abstract

RAMIREZ LOPEZ, María Isabel; ROJAS GOMEZ, Silvia Rossana; MONSALVE, Alfredo Alejandro  and  RAMIREZ, Braandoon. Mutation of Factor II G20210A unusual cause of portal hypertension a case report. Gen [online]. 2025, vol.79, n.2, pp.90-94.  Epub May 12, 2025. ISSN 0016-3503.  https://doi.org/10.61155/gen.v79i2.741.

Traumatic Left portal hypertension is a clinical syndrome characterized by obstruction of prehepatic portal vein flow. Its etiologies include neoplasms, chronic pancreatitis, splenic vein thrombosis, and, less frequently, hypercoagulability states. The incidence is estimated at 2-4 cases per 100,000 inhabitants. We present the case of a 35-year-old female with a history of open cholecystectomy in 2022. In July 2023, she developed symptoms characterized by hematochezia and hematemesis. She also reported pain in the upper and lower limbs, accompanied by bruises unrelated to trauma. Gastroscopy revealed large esophagogastric varices and fundic varices. Imaging studies with a portal emphasis showed thrombosis of both the portal and splenic veins. A comprehensive panel was conducted to rule out hypercoagulability states and hereditary thrombophilia, revealing a Factor II G20210A mutation, leading to the diagnosis of congenital thrombophilia. The patient underwent three sessions of endoscopic variceal ligation, and treatment with beta-blockers and direct oral anticoagulants (DOACs) was initiated. The prothrombin gene mutation alone is generally insufficient to cause venous thrombosis, particularly in heterozygous individuals. There are few reported cases of portal and splenic vein thrombosis following cholecystectomy as a triggering factor associated with the Factor II G20210A prothrombin mutation, as observed in our patient.

Keywords : Portal thrombosis; esophageal varices; left portal hypertension; factor II mutation.

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