2423 A Case of Budd-Chiari in the Setting of Paroxysmal Nocturnal Hemoglobinuria

Abstract

INTRODUCTION: Paroxysmal nocturnal hemoglobinuria has an incidence of 1.3 case per 1 million, but the incidence is significantly increased in patients with aplastic anemia. We present a patient with a history of aplastic anemia who presents with findings concerning for Budd-Chiari. CASE DESCRIPTION/METHODS: A 44 year old man with a history of aplastic anemia presented with dyspnea and abdominal distention that started over the course of several days. At time of presentation, he appeared uncomfortable, but was hemodynamically stable. Due to initial concern for PE, CT chest was obtained and negative for pulmonary process. CT did note liver changes concerning for cirrhosis, however patient denied history of liver disease or risk factors associated with cirrhosis. Work up for causes of cirrhosis was initiated, and lab studies were unrevealing. SAAG score of 2.1 indicating portal hypertension as a cause of ascites. Due patient's fairly rapid onset of symptoms and otherwise unremarkable work up, CT liver protocol was performed with concern for Budd-Chiari. Imaging was suggestive of cirrhosis, and could not rule out Budd-Chiari, however no evidence of thrombosis was identified. Portal venous duplex suggested patent portal system without thrombosis. Given high level of suspicion for Budd-Chiari, hepatic venography was obtained, and significant for partial or complete thrombosis of all hepatic veins. In the setting of a patient with aplastic anemia and Budd-Chiari, work up for PNH was initiated and consistent with PNH. With diagnosis of cirrhosis due to Budd-Chiari, patient was referred to transplant clinic. With new diagnosis of PNH, he was started on Eculizumab with Hematology follow up. DISCUSSION: If there is concern for Budd-Chiari, diagnosis is generally with doppler ultrasonography. If US unremarkable, CT or MRI can be performed. If noninvasive diagnostic tools are nondiagnostic, hepatic venography can be performed given there is strong clinical suspicion. In PNH, thrombosis is the leading cause of death, though rare as a presenting symptom. Thromboses typically occur in unusual locations, and approximately two-thirds of thrombosis occur in intra-abdominal locations. The incidence of PNH is significantly increased in patients with aplastic anemia. In a patient with high concern for Budd-Chiari and unremarkable noninvasive testing, hepatic venography is a helpful diagnostic tool. In a patient with significant thrombosis such as this with a history of aplastic anemia, it is important to consider PNH.