P87 Thrombophilia screening in portal vein thrombosis: diagnostic yield versus clinical relevance

<h3>Introduction</h3> Portal vein thrombosis (PVT) is a common vascular complication in chronic liver disease but may also occur in non-cirrhotic individuals. In the absence of identifiable local or transient risk factors, inherited thrombophilia is often investigated. However, the clinical and prognostic relevance of such testing remains uncertain. This study aimed to evaluate the diagnostic yield, as well as the clinical and prognostic utility, of thrombophilia screening in patients with PVT. <h3>Methods</h3> We conducted a retrospective analytical study including 83 patients diagnosed with acute or chronic PVT between 2014 and 2025. Thrombophilia screening was systematically performed after the acute phase, and after exclusion of transient or acquired causes (e.g., decompensated cirrhosis, active malignancy, infection, pregnancy, etc). The workup included protein C, protein S, and antithrombin III assays, as well as genetic testing for factor V Leiden and prothrombin G20210A mutations. Clinical, biochemical, imaging, and outcome data were analyzed. <h3>Results</h3> The median age was 44.9 years, with a strong female predominance (77.1%). Only 9.6% had cirrhosis. Thrombosis was complete in 78.3%, extended to the splenic vein in 18.1%, and was associated with cavernous transformation in 75.9% of cases. Thrombophilia testing revealed abnormalities in 31 patients (37.3%), including: Protein C deficiency: 30.1% Protein S deficiency: 34.9% Antithrombin III deficiency: 7.2% Combined deficiencies: 19 patients had both protein C and S deficiency; 4 patients had triple deficiency. No factor V Leiden or prothrombin gene mutations were detected. All patients received anticoagulation. Among those with thrombophilia, 40% developed clinical decompensation (ascites, GI bleeding, or hepatic encephalopathy). At follow-up, outcomes were as follows: stabilization in 22 patients (73.3%), extension in 5 cases (16.7%), two deaths (6.7%), and complete repermeabilization in one patient (3.3%). Univariate analysis showed no significant association between thrombophilia and either clinical decompensation (p = 0.56) or unfavorable outcome (p = 0.63). <h3>Conclusion</h3> Despite a relatively high diagnostic yield (37.3%), systematic thrombophilia screening in PVT was not associated with meaningful clinical or prognostic impact. Given the lack of therapeutic consequence, the cost, and the complexity of interpretation, our findings argue against routine testing in all patients. Instead, thrombophilia screening should be reserved for selected patients: young, non-cirrhotic individuals without local risk factors, or those with a strong personal or family history suggestive of a prothrombotic condition. This study supports a more targeted and cost-effective approach to thrombophilia workup in clinical practice.