Genetic Diagnosis and Combinational Treatment With Pharmacomechanical Thrombectomy and Transjugular Intrahepatic Portosystemic Shunt for Non-cirrhotic and Non-malignant Portal Vein Thrombosis

ObjectiveThis study aimed to evaluate the potential role of the whole-exome sequencing (WES) technique in screening pathogenic genes of non-cirrhotic and non-malignant portal vein thrombosis (PVT) and the clinical efficacy of AngioJet-assisted pharmacomechanical thrombectomy (PMT) with transjugular intrahepatic portosystemic stent shunt (TIPS) to treat this disease.Methods16 patients with acute non-cirrhotic and non-malignant PVT were retrospectively analyzed. 14 patients received genetically diagnosed using the WES technique, ten patients received PMT with or without TIPS and 6 cases received anticoagulation alone. Changes in clinical symptoms, and recanalization of the portal vein (PV) were also recorded.Results4 patients (28.6%) had JAK2 V617 F mutation, 4 patients (28.6%) had PROC mutations, 3 patients (21.4%) had SERPINC1mutations. Among patients treated with anticoagulation alone, 5 patients (83.3%, 5/6) developed cavernous transformation of PV and one patient with JAK2 V617 F mutation achieved complete recanalization of PV. One patient treated with PMT without TIPS developed PV cavernous transformation, eight patients (80%) treated with PMT and TIPS achieved complete or partial recanalization of PV. Three patients who developed intestinal necrosis all had SERPINC1 mutations and one of them died of intestinal necrosis. No recurrence was found during follow-up (1-36 months).ConclusionsThe WES technique offers a promising way to screen for thrombophilia in patients with non-cirrhotic and non-malignant PVT. Patients with SERPINC1 mutations are more inclined to develop intestinal necrosis than others. PMT combined with TIPS provides a safe and effective therapeutic alternative.