Predisposition to Budd-Chiari Syndrome: A Single-Center Case Series of a Rare Subset of Venous Thromboembolism

Introduction: Budd-Chiari Syndrome (BCS) is a consequence of obstruction of hepatic venous outflow tract leading to increased sinusoidal pressure, portal hypertension and hepatic necrosis. The true incidence and ideal management strategy including the duration of anticoagulation is not fully clear due to the rarity of the event in general population. Many associations like hypercoagulablestates, tumors, infections, and auto immune diseases are described. We intend to describe the patient population diagnosed with BCS and following up in our thrombosis clinic.

Methods: We identified 9 patients diagnosed with from 2010-2015. We evaluated various demographics, laboratory data, identifiable etiology of BCS, Child-Pugh score (CP), Model of End stage Liver Disease score (MELD), presence of esophageal varices, anticoagulation used and duration of therapy.

Results: Characteristics of the study population included a median age of 36 years (28-58 y), 55% females and 77% whites (Table 1). Following anticoagulants used: Warfarin (n=7), Heparin switched to Bivalirudin due to heparin induced thrombocytopenia (n=1), None (n=1) and those 7 remained on indefinite anticoagulation. The one treated with Heparin-Bivalirudin died soon from diagnosis and the one with no identifiable thrombophilia was non compliant and did not receive anticoagulation. Of those 7 on Warfarin only one experienced anticoagulation failure with recurrence of thrombosis needing a change in anticoagulant. At diagnosis median INR was 1.5 (1-2.4), median Anti thrombin (AT) activity of 68% (39-111%) (Ref range 80-120%) in 8 evaluated patients, Protein C was 62% (65-145%) in 3 patients tested, Protein S was 90% (71-170%) in 3 tested patients. Other tests were positive for heterozygous factor V Leiden (FVL) mutation (11%) and Antiphospholipid antibody syndrome (APS) (11%) but not for Prothrombin G20210A mutation. Median Creatinine was 1.04 mg/dL (0.5-2.2 mg/dL), bilirubin 2.8 mg/dL (0.3-6.4 mg/dL), Albumin 3.3 gm/dL (2.3-3.4 gm/dL), Alkaline phosphatase 163 U/L (86-275 U/L), AST 135 U/L (14-1037 U/L), ALT 236 U/L (18-1694 U/L), Hemoglobin 15.8 gm/dL (9.9-20 gm/dL), Platelet count of 335 x 10E3/cmm (70-971 x 10E3/cmm). 2 of the 5 women were on OC pills (One >6 month and one patient <6 months duration). 8 of 9 had ascites, 2 of 9 had alcohol abuse, 4 of 9 had cirrhosis. Median MELD score was 11 (6-28) and Child-Pugh score of 9 (8-13), 3 of 9 patients did not have varices, 3 of 9 had smoking history. Median BMI is 30 (18-38), 3 of 9 underwent liver transplant and 1 of 9 underwent TIPS but died before liver transplant. Etiologies include Myeloproliferative Neoplasms (67%), APS (11%), Sarcoidosis(11%) and none (11%).

Conclusions: The incidence of Myeloprolifeartive neoplasms was very high (67%) in our cohort and indicates that such disorders be ruled out in patients with BCS at diagnosis. The most common familial thrombophilia including Factor V Leiden and Prothrombingene mutations appear to be less frequent than reported previously. Acquired AT deficiency is not uncommon. Proper evaluation of the underlying etiology may help identify important disorders and may guide anticoagulant management.

APS-Antiphospholipid antibody syndrome, AT-Antithrombin activity, ET-Essential thrombocythemia, MPN-MyeloprolifeativeNeoplasms, NA-Not available, PV-Polycythemia Vera