Splanchnic venous thrombosis in JAK2 V617F mutation positive myeloproliferative neoplasms – long term follow-up of a regional case series

BACKGROUND: Splanchnic Vein Thrombosis (SVT) is strongly associated with underlying JAK2 V617F positive myeloproliferative neoplasms (MPN). METHODS: Patients attending the tertiary haematology service in Northern Ireland with SVT and underlying JAK2 V617F MPN were identified by consultant staff. A retrospective audit was undertaken to examine therapeutic interventions and relevant outcomes. Descriptive statistics were used for qualitative data whilst students t-test allowed comparison of quantitative data. RESULTS: We report on the medium to long term follow-up of fourteen patients presenting with SVT on the basis of JAK2 V617F positive MPN. Females comprised 78.5% of the patients and there was an average age of 47.3 years at time of diagnosis. There was significant morbidity evident at diagnosis with liver transplantation attempted in all patients with Budd Chiari (n = 3), oesophageal varices present in 57.1%, ascites present in 42.8% and splenomegaly evident in 71.4%. 42.8% of patients did not exhibit classical phenotypic blood count findings for MPN at time of diagnosis. Over a median follow-up of 88.5 months (range = 8–211 months) recurrence of SVT was only documented in the setting of interventional liver procedure. Major haemorrhagic complications were recorded in 35.7% of patients and there was an association with dual anticoagulation and antiplatelet use. Recurrent thrombosis outside of the splanchnic venous system occurred in 28.5% of patients, predominantly occurring off therapeutic anticoagulation. No deaths were recorded and one transformation to myelofibrosis was seen during follow-up. Cytoreduction therapies were routinely used but had a high discontinuation rate due to cytopenias and intolerance. CONCLUSION: This analysis highlights the complexities of management of this group of patients over a period of long follow-up with a focus on the evidence behind therapeutic options.