S2943 Budd-Chiari Syndrome Diagnosis Achieved With High Clinical Suspicion Raised by EUS-Guided Portal Pressures and Liver Biopsy

Abstract

Introduction: Budd Chiari syndrome (BCS) is a rare syndrome due to hepatic venous obstruction in the absence of cardiac cause, mostly secondary to thrombosis. As high as 80%of patients present with ascites. The diagnosis should be suspected in patient with acute or chronic liver disease without identified cause. Venous obstruction can be seen on Doppler ultrasound, CT, or MRI of the hepatic veins and inferior vena cava. In some cases, hepatic venogram is needed for its diagnostic and therapeutic advantages. We report a 50-year-old woman with BCS who underwent successful wire recanalization, angioplasty and thrombolysis of the right hepatic vein. Case Description/Methods: 50-year-old woman with no significant past medical history presented with abdominal distension and bilateral lower extremity swelling of two weeks duration. On exam, abdomen was distended with positive signs of fluid collection with +3 bilateral lower extremity edema. Labs revealed total bilirubin 3.3 direct bilirubin 1.4, ALP 477, ALT 38, AST 96, PT 14.4, INR 1.35. Ultrasound showed Heterogeneous appearance of liver and large volume ascites. Doppler study showed normal hepatic and portal venous flow. Abdominal MRI showed hepatic steatosis and caudate lobe hypertrophy. Large volume paracentesis was done with analysis showing SAAG of 3.1, WBC 364, Neutrophils 8. EGD revealed large esophageal varices. Viral hepatitis panel, ceruloplasmin, alpha-1antitripsin, ASMA, AMA antibodies were negative. EUS guided liver biopsy and portal pressure measurement was done showing venous pressure gradient of 13 consistent with portal hypertension. Liver biopsy showed grade 2 fibrosis and zone 3 congestion. Hepatic venogram showed chronically occluded right hepatic vein on which successful wire recanalization was done. Pt was worked up for hypercoagulable state and was found to have JAK 2 mutation and Protein C deficiency. Apixaban, Beta blocker and diuretics were started. Patient showed significant improvement with ascites and MELD score. Discussion: First line investigation for diagnosis of BCS is doppler ultrasound. Doppler US and MRI venography didn’t reveal the hepatic venous thrombosis in our patient. However, high index of suspicion, finding of elevated IVC pressure on EUS, and caudate lobe hypertrophy found on imaging as well as congestion liver biopsy findings led us to further investigate with hepatic venogram which confirmed the diagnosis and provided therapeutic advantages. Table 1. - Prothrombotic risk factors for BCS ACG Clinical Guideline A. Acquired thrombophilia B. Inherited thrombophilia C. Systemic factors D. Hormonal factors Myeloproliferative disorderPolycythemia veraEssential thrombocytosisIdiopathic myelofibrosisJAK 2 mutationPNH Hyperhomocysteinemia Factor V LeidenProthrombin gene G20210A mutationMTHFR C677T mutationThalassemiaPC deficiencyProtein C deficiencyAntithrombin deficiency SarcoidosisVasculitisBehcet’s diseaseConnective tissue diseaseInflammatory bowel diseases OCP usePregnancy Disorders of the Hepatic and Mesenteric Circulation Simonetto, Douglas A.; Singal, Ashwani K.; Garcia-Tsao, Guadalupe; Caldwell, Stephen H.; Ahn, Joseph; Kamath, Patrick S. Official journal of the American College of Gastroenterology | ACG115(1):18-40, January 2020. doi: 10.14309/ajg.0000000000000486