1357 Pseudocirrhosis in Subacute/Chronic Budd-Chiari Syndrome With JAK 2 Mutation

Abstract

INTRODUCTION: Budd Chiari Syndrome (BCS) is a rare disorder often characterized by hepatic venous outflow obstruction. Myeloproliferative disorders especially V617F-JAK2 mutations account for almost 40% of these patients. BCS may present differently depending on location, extent, severity of obstruction and existence of collaterals. The course of disease may be fulminant, acute, subacute or chronic, ranging from incidental findings to fatal acute hepatic failure. CASE DESCRIPTION/METHODS: A 74-year-old female with remote history of alcoholism, presented to our facility with bleeding per rectum for 2 days. Labs on admission revealed WBC 18.4, HGB 16.8, PLT 588, AST 570, ALT 804 and TB 4.6. Ultrasound Abdomen with Doppler revealed ascites and portal vein thrombosis. Follow-up MRI Abdomen confirmed thrombus in main portal vein and non-opacification of major intrahepatic veins suggesting Budd Chiari Syndrome. Hypercoagulability workup showed positive JAK2 mutation. She was started on IV Heparin immediately. Diagnostic paracentesis revealed transudative fluid and liver elastography confirmed cirrhosis. Grade 2 esophageal varices were seen on EGD with a negative colonoscopy. Other possible etiology of congestive hepatopathy/cirrhosis were excluded. Patient was discharged on daily oral Rivaroxaban with intermittent therapeutic paracentesis. Over next 3 months, she had recurrent admissions for decompensated liver disease. During her last visit however, we noted preserved synthetic liver function and inconsistencies in her presentation thus a liver biopsy was obtained which revealed centrilobular hepatocellular necrosis, sinusoidal dilatation and mild portal fibrosis consistent with hepatic venous outflow obstruction. However, there was no evidence of cirrhosis. She was transferred to an advanced facility for portal vein reconstruction to relieve the obstruction from splanchnic venous thrombosis and possibly reverse the “pseudocirrhosis”. DISCUSSION: Pseudocirrhosis is often associated with metastatic cancers in response to chemotherapy induced ischemic injury. Although it radiologically and clinically mimics liver cirrhosis, it can be prevented with early detection. To our knowledge, this is the first reported case of pseudocirrhosis in BCS. Subacute/chronic BCS may present with cirrhotic complications like portal hypertension, ascites and variceal bleeding. Apart from anticoagulation, these patients may require other interventions to bypass the obstruction like Direct Intrahepatic Portosystemic Shunt (DIPS) placement.