INTENSIVE HEMATOLOGY SCREENING FOR MYELOPROLIFERATIVE NEOPLASM AND EARLY RADIOLOGICAL INTERVENTION IS ASSOCIATED WITH EXCELLENT OUTCOMES IN BUDD CHIARI SYNDROME
(Abstract release date: 05/19/16)
EHA Library. Mo A. 06/09/16; 133106; E1557
Dr. Allison Mo
Contributions
Contributions
Abstract
Abstract: E1557
Type: Eposter Presentation
Background
Budd Chiari Syndrome (BCS) is a rare and life-threatening disorder, resulting from thrombosis of the hepatic veins. Aetiologies include prothrombotic states such as Myeloproliferative Neoplasm (MPN). Current treatment strategies involve a step-wise approach of anticoagulation followed successively by radiological and surgical interventions, and ultimately liver transplantation.
Aims
We aimed to retrospectively describe our institution’s experience with the management of patients with BCS, including the diagnosis (by bone marrow biopsy and molecular testing for JAK2 and calreticulin mutations) and management of concomitant MPN.
Methods
In this retrospective study, approved by the hospital's Research Ethics committee, all cases of primary BCS, including new and recurrent presentations, presenting between January 2000 and August 2012 were identified from the hospital’s computerised database.
Results
27 patients with primary BCS presented during the study period. Twenty-four patients (89%) had identifiable risk factors, with the commonest being MPN, detected in 17/24 (71%) of the tested patients. This included 4 patients who initially presented with normal peripheral blood counts. The MPN diagnosis was made on the basis of JAK2V617F positivity (n=13), either alone (n= 8) or with a confirmatory bone marrow biopsy (n=5); or on marrow biopsy alone (n=4). The calreticulin mutation was detected in 2/9 tested patients (one patient with JAK2 negative MPN and one with ET with unknown JAK2 status). Subtypes of MPN included: Polycythaemia Vera (n = 8), Essential Thrombocytosis(n = 6), MPN unclassified (n=2) and Chronic Myeloid Leukaemia (n=1). An additional thrombophilic state was present in six of the MPN patients: the oral contraceptive pill (n=4), factor V Leiden heterozygosity (n=1), anticardiolipin antibody and recent in-vitro fertilisation (IVF) treatment (n=1). Of the six patients with a known diagnosis of MPN prior to BCS, three were on treatment with hydroxyurea, aspirin or venesection but none were anticoagulated prior to BCS diagnosis. Of the 11 patients with newly diagnosed MPN, additional treatment included hydroxyurea alone (n=3), venesection alone (n= 2), hydroxyurea and venesection (n=2), hydroxyurea and splenectomy (n= 1) and interferon (n= 1). Three patients with MPN were not given additional cytoreductive treatment: two in the context of normal peripheral blood counts, and one diagnosed just prior to death.All patients in the study were anticoagulated with warfarin or Low Molecular Weight Heparin, and 2 of the MPN patients also had aspirin. 25 of the 27 (92.6%) patients also had upfront radiological interventions, consisting of TIPS (transjugular intrahepatic portosystemic shunt) in 18 (67%) patients and/or angioplasty/stenting in 11 (40%). No patient developed TIPS failure. At a median follow up of 59 months (range 2 to 248 months), the overall survival was 96% at one year and 81% at five years, much greater than predicted by the patients’ median Rotterdam score of 1.16 (range 0.07 – 2.11). No patients required liver transplantation.
Conclusion
There is a high incidence of MPN in patients with primary BCS, predominantly JAK2V617F positive, including patients with normal peripheral blood counts at the time of diagnosis. All BCS patients should therefore have JAK2 testing and, if negative, calreticulin mutation testing. A bone marrow biopsy should be considered if these are negative, in the context of unexplained polycythaemia or thrombocytosis. Furthermore, we advocate early radiological hepatic decompression as an alternative to the step-wise approach, as we have demonstrated excellent medium term outcomes with no TIPS failure and no patients requiring transplantation.
Session topic: E-poster
Keyword(s): Anticoagulation, Liver disease, Myeloproliferative disorder, Thrombosis
Type: Eposter Presentation
Background
Budd Chiari Syndrome (BCS) is a rare and life-threatening disorder, resulting from thrombosis of the hepatic veins. Aetiologies include prothrombotic states such as Myeloproliferative Neoplasm (MPN). Current treatment strategies involve a step-wise approach of anticoagulation followed successively by radiological and surgical interventions, and ultimately liver transplantation.
Aims
We aimed to retrospectively describe our institution’s experience with the management of patients with BCS, including the diagnosis (by bone marrow biopsy and molecular testing for JAK2 and calreticulin mutations) and management of concomitant MPN.
Methods
In this retrospective study, approved by the hospital's Research Ethics committee, all cases of primary BCS, including new and recurrent presentations, presenting between January 2000 and August 2012 were identified from the hospital’s computerised database.
Results
27 patients with primary BCS presented during the study period. Twenty-four patients (89%) had identifiable risk factors, with the commonest being MPN, detected in 17/24 (71%) of the tested patients. This included 4 patients who initially presented with normal peripheral blood counts. The MPN diagnosis was made on the basis of JAK2V617F positivity (n=13), either alone (n= 8) or with a confirmatory bone marrow biopsy (n=5); or on marrow biopsy alone (n=4). The calreticulin mutation was detected in 2/9 tested patients (one patient with JAK2 negative MPN and one with ET with unknown JAK2 status). Subtypes of MPN included: Polycythaemia Vera (n = 8), Essential Thrombocytosis(n = 6), MPN unclassified (n=2) and Chronic Myeloid Leukaemia (n=1). An additional thrombophilic state was present in six of the MPN patients: the oral contraceptive pill (n=4), factor V Leiden heterozygosity (n=1), anticardiolipin antibody and recent in-vitro fertilisation (IVF) treatment (n=1). Of the six patients with a known diagnosis of MPN prior to BCS, three were on treatment with hydroxyurea, aspirin or venesection but none were anticoagulated prior to BCS diagnosis. Of the 11 patients with newly diagnosed MPN, additional treatment included hydroxyurea alone (n=3), venesection alone (n= 2), hydroxyurea and venesection (n=2), hydroxyurea and splenectomy (n= 1) and interferon (n= 1). Three patients with MPN were not given additional cytoreductive treatment: two in the context of normal peripheral blood counts, and one diagnosed just prior to death.All patients in the study were anticoagulated with warfarin or Low Molecular Weight Heparin, and 2 of the MPN patients also had aspirin. 25 of the 27 (92.6%) patients also had upfront radiological interventions, consisting of TIPS (transjugular intrahepatic portosystemic shunt) in 18 (67%) patients and/or angioplasty/stenting in 11 (40%). No patient developed TIPS failure. At a median follow up of 59 months (range 2 to 248 months), the overall survival was 96% at one year and 81% at five years, much greater than predicted by the patients’ median Rotterdam score of 1.16 (range 0.07 – 2.11). No patients required liver transplantation.
Conclusion
There is a high incidence of MPN in patients with primary BCS, predominantly JAK2V617F positive, including patients with normal peripheral blood counts at the time of diagnosis. All BCS patients should therefore have JAK2 testing and, if negative, calreticulin mutation testing. A bone marrow biopsy should be considered if these are negative, in the context of unexplained polycythaemia or thrombocytosis. Furthermore, we advocate early radiological hepatic decompression as an alternative to the step-wise approach, as we have demonstrated excellent medium term outcomes with no TIPS failure and no patients requiring transplantation.
Session topic: E-poster
Keyword(s): Anticoagulation, Liver disease, Myeloproliferative disorder, Thrombosis
Abstract: E1557
Type: Eposter Presentation
Background
Budd Chiari Syndrome (BCS) is a rare and life-threatening disorder, resulting from thrombosis of the hepatic veins. Aetiologies include prothrombotic states such as Myeloproliferative Neoplasm (MPN). Current treatment strategies involve a step-wise approach of anticoagulation followed successively by radiological and surgical interventions, and ultimately liver transplantation.
Aims
We aimed to retrospectively describe our institution’s experience with the management of patients with BCS, including the diagnosis (by bone marrow biopsy and molecular testing for JAK2 and calreticulin mutations) and management of concomitant MPN.
Methods
In this retrospective study, approved by the hospital's Research Ethics committee, all cases of primary BCS, including new and recurrent presentations, presenting between January 2000 and August 2012 were identified from the hospital’s computerised database.
Results
27 patients with primary BCS presented during the study period. Twenty-four patients (89%) had identifiable risk factors, with the commonest being MPN, detected in 17/24 (71%) of the tested patients. This included 4 patients who initially presented with normal peripheral blood counts. The MPN diagnosis was made on the basis of JAK2V617F positivity (n=13), either alone (n= 8) or with a confirmatory bone marrow biopsy (n=5); or on marrow biopsy alone (n=4). The calreticulin mutation was detected in 2/9 tested patients (one patient with JAK2 negative MPN and one with ET with unknown JAK2 status). Subtypes of MPN included: Polycythaemia Vera (n = 8), Essential Thrombocytosis(n = 6), MPN unclassified (n=2) and Chronic Myeloid Leukaemia (n=1). An additional thrombophilic state was present in six of the MPN patients: the oral contraceptive pill (n=4), factor V Leiden heterozygosity (n=1), anticardiolipin antibody and recent in-vitro fertilisation (IVF) treatment (n=1). Of the six patients with a known diagnosis of MPN prior to BCS, three were on treatment with hydroxyurea, aspirin or venesection but none were anticoagulated prior to BCS diagnosis. Of the 11 patients with newly diagnosed MPN, additional treatment included hydroxyurea alone (n=3), venesection alone (n= 2), hydroxyurea and venesection (n=2), hydroxyurea and splenectomy (n= 1) and interferon (n= 1). Three patients with MPN were not given additional cytoreductive treatment: two in the context of normal peripheral blood counts, and one diagnosed just prior to death.All patients in the study were anticoagulated with warfarin or Low Molecular Weight Heparin, and 2 of the MPN patients also had aspirin. 25 of the 27 (92.6%) patients also had upfront radiological interventions, consisting of TIPS (transjugular intrahepatic portosystemic shunt) in 18 (67%) patients and/or angioplasty/stenting in 11 (40%). No patient developed TIPS failure. At a median follow up of 59 months (range 2 to 248 months), the overall survival was 96% at one year and 81% at five years, much greater than predicted by the patients’ median Rotterdam score of 1.16 (range 0.07 – 2.11). No patients required liver transplantation.
Conclusion
There is a high incidence of MPN in patients with primary BCS, predominantly JAK2V617F positive, including patients with normal peripheral blood counts at the time of diagnosis. All BCS patients should therefore have JAK2 testing and, if negative, calreticulin mutation testing. A bone marrow biopsy should be considered if these are negative, in the context of unexplained polycythaemia or thrombocytosis. Furthermore, we advocate early radiological hepatic decompression as an alternative to the step-wise approach, as we have demonstrated excellent medium term outcomes with no TIPS failure and no patients requiring transplantation.
Session topic: E-poster
Keyword(s): Anticoagulation, Liver disease, Myeloproliferative disorder, Thrombosis
Type: Eposter Presentation
Background
Budd Chiari Syndrome (BCS) is a rare and life-threatening disorder, resulting from thrombosis of the hepatic veins. Aetiologies include prothrombotic states such as Myeloproliferative Neoplasm (MPN). Current treatment strategies involve a step-wise approach of anticoagulation followed successively by radiological and surgical interventions, and ultimately liver transplantation.
Aims
We aimed to retrospectively describe our institution’s experience with the management of patients with BCS, including the diagnosis (by bone marrow biopsy and molecular testing for JAK2 and calreticulin mutations) and management of concomitant MPN.
Methods
In this retrospective study, approved by the hospital's Research Ethics committee, all cases of primary BCS, including new and recurrent presentations, presenting between January 2000 and August 2012 were identified from the hospital’s computerised database.
Results
27 patients with primary BCS presented during the study period. Twenty-four patients (89%) had identifiable risk factors, with the commonest being MPN, detected in 17/24 (71%) of the tested patients. This included 4 patients who initially presented with normal peripheral blood counts. The MPN diagnosis was made on the basis of JAK2V617F positivity (n=13), either alone (n= 8) or with a confirmatory bone marrow biopsy (n=5); or on marrow biopsy alone (n=4). The calreticulin mutation was detected in 2/9 tested patients (one patient with JAK2 negative MPN and one with ET with unknown JAK2 status). Subtypes of MPN included: Polycythaemia Vera (n = 8), Essential Thrombocytosis(n = 6), MPN unclassified (n=2) and Chronic Myeloid Leukaemia (n=1). An additional thrombophilic state was present in six of the MPN patients: the oral contraceptive pill (n=4), factor V Leiden heterozygosity (n=1), anticardiolipin antibody and recent in-vitro fertilisation (IVF) treatment (n=1). Of the six patients with a known diagnosis of MPN prior to BCS, three were on treatment with hydroxyurea, aspirin or venesection but none were anticoagulated prior to BCS diagnosis. Of the 11 patients with newly diagnosed MPN, additional treatment included hydroxyurea alone (n=3), venesection alone (n= 2), hydroxyurea and venesection (n=2), hydroxyurea and splenectomy (n= 1) and interferon (n= 1). Three patients with MPN were not given additional cytoreductive treatment: two in the context of normal peripheral blood counts, and one diagnosed just prior to death.All patients in the study were anticoagulated with warfarin or Low Molecular Weight Heparin, and 2 of the MPN patients also had aspirin. 25 of the 27 (92.6%) patients also had upfront radiological interventions, consisting of TIPS (transjugular intrahepatic portosystemic shunt) in 18 (67%) patients and/or angioplasty/stenting in 11 (40%). No patient developed TIPS failure. At a median follow up of 59 months (range 2 to 248 months), the overall survival was 96% at one year and 81% at five years, much greater than predicted by the patients’ median Rotterdam score of 1.16 (range 0.07 – 2.11). No patients required liver transplantation.
Conclusion
There is a high incidence of MPN in patients with primary BCS, predominantly JAK2V617F positive, including patients with normal peripheral blood counts at the time of diagnosis. All BCS patients should therefore have JAK2 testing and, if negative, calreticulin mutation testing. A bone marrow biopsy should be considered if these are negative, in the context of unexplained polycythaemia or thrombocytosis. Furthermore, we advocate early radiological hepatic decompression as an alternative to the step-wise approach, as we have demonstrated excellent medium term outcomes with no TIPS failure and no patients requiring transplantation.
Session topic: E-poster
Keyword(s): Anticoagulation, Liver disease, Myeloproliferative disorder, Thrombosis
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