Thrombophilia in Budd-Chiari syndrome patient

A 27-years old female patient presented with a severe general condition of generalized edema and hypotension. Two months earlier computed tomography imaged thrombosis of the inferior vena cava and the three hepatic veins, or Budd-Chiari syndrome (BCS). Additional findings were thrombosis of the right common iliac vein and thrombosis of the renal veins bilaterally. Genetic testing proved congenital thrombophilia. Anticoagulation therapy did not affect thrombotic occlusions. In another cardiovascular center, an unsuccessful attempt for interventional treatment of the inferior vena cava with a jugular approach was made. The patient was admitted to our hospital for further evaluation and decision on treatment strategy. Laboratory and non-invasive imaging at admission rejected hepatic cirrhosis. An abdominal ultrasound scan demonstrated complete occlusion of the three hepatic veins and post hepatic portal hypertension. When thrombosis of all hepatic veins was detected transjugular intrahepatic portosystemic shunt (TIPS) was an option. An endovascular strategy for inferior vena cava was undertaken and complete revascularization was achieved with the right femoral approach as a bridge to TIPS shunt procedure, since the patient didn’t meet the criteria for liver transplantation. In diagnosing disease, the main contributors were the gastroenterologist, diagnostic imaging specialist, and hematologist, while the multidisciplinary team included also cardiologist, interventional cardiologist, and angiologist. In this case the multidisciplinary decisions played a major role in diagnosing and building an appropriate therapeutic strategy for systemic illnesses and conditions for which medical guidance does not yet have clear guidelines.