Medical University of South Carolina Charleston, SC
Introduction: Patients that present with Budd-Chiari Syndrome (BCS) may have underlying myeloproliferative neoplasms (MPN). Long-term prognosis is taken into consideration when evaluating for transplant. Here we present a complex patient with BCS secondary to MPN.
Case Description/Methods: A 63-year-old male with new onset cirrhosis complicated by ascites and hepatic encephalopathy was hospitalized with three days of abdominal pain, distention, and diarrhea. He denied any new medications. He had no known personal or family history of liver or autoimmune diseases. He denied alcohol use. Initial laboratory evaluation included MELD-Na 15, undetectable acetaminophen, negative viral hepatitis serologies, and paracentesis was negative for infection with SAAG of 1.9. CT showed cirrhotic morphology, splenomegaly, and ascites. Ultrasound with doppler and CT venogram showed findings consistent with Budd-Chiari Syndrome (BCS). He was started on therapeutic heparin. The patient decompensated further with high MELD-Na and renal failure ultimately requiring renal replacement therapy and pressors. He was found to have a positive JAK2 V617F mutation. With leukocytosis and JAK2 mutation, bone marrow biopsy was obtained showing MPN consistent with myelofibrosis (MF). He was listed for transplant as MF was not deemed an absolute contraindication. Unfortunately, he decompensated further with variceal bleed and expired prior to transplant.
Discussion: Considerations for our patient prior to transplant included the risk of leukemic transformation in setting of immunosuppression as well as increased thrombotic risk in the peri/post-operative setting. One study evaluated the prognosis of liver transplant with BCS and MPN and effects of immunosuppression. There was no difference in survival in BCS patients with or without MPN. Progression of MPN was not noted after transplant. The major concern was, however, was his thrombotic risk. One study identified portal vein thrombosis as an independent risk factor for graft loss in transplant recipients, independent of other factors. Listing the patient for transplant was controversial for these reasons. Hydroxyurea was initiated to mitigate these risks and bridge to transplant in this otherwise healthy, young, and high functioning patient. This case highlights the rapid decline of a complex patient with BCS secondary to myeloproliferative disease and the current data available to guide decision making in the transplant evaluation process.
