scholarly journals High prevalence of the JAK2 V617F mutation in patients with extrahepatic portal vein thrombosis

Hepatology ◽  
2007 ◽  
Vol 45 (3) ◽  
pp. 831-832 ◽  
Author(s):  
Valerio De Stefano ◽  
Alessia Fiorini ◽  
Elena Rossi ◽  
Tommaso Za ◽  
Patrizia Chiusolo ◽  
...  
Blood ◽  
2012 ◽  
Vol 120 (25) ◽  
pp. 4921-4928 ◽  
Author(s):  
Jasper H. Smalberg ◽  
Lidia R. Arends ◽  
Dominique C. Valla ◽  
Jean-Jacques Kiladjian ◽  
Harry L. A. Janssen ◽  
...  

Abstract Myeloproliferative neoplasms (MPNs) are the most common cause of Budd-Chiari syndrome (BCS) and nonmalignant, noncirrhotic portal vein thrombosis (PVT). In this meta-analysis, we determined the prevalence of MPNs and their subtypes as well as JAK2V617F and its diagnostic role in these uncommon disorders. MEDLINE and EMBASE databases were searched. Prevalence of MPNs, JAK2V617F, and MPN subtypes were calculated using a random-effects model. A total of 1062 BCS and 855 PVT patients were included. In BCS, mean prevalence of MPNs and JAK2V617F was 40.9% (95% CI, 32.9%-49.5%) and 41.1% (95% CI, 32.3%-50.6%), respectively. In PVT, mean prevalence of MPNs and JAK2V617F was 31.5% (95% CI, 25.1%-38.8%) and 27.7% (95% CI, 20.8%-35.8%), respectively. JAK2V617F and MPNs were more frequent in BCS compared with PVT (P = .03 and P = .09, respectively). Polycythemia vera was more prevalent in BCS than in PVT (P = .001). JAK2V617F screening in splanchnic vein thrombosis (SVT) patients without typical hematologic MPN features identified MPN in 17.1% and 15.4% of screened BCS and PVT patients, respectively. These results demonstrate a high prevalence of MPNs and JAK2V617F in SVT patients and show differences in underlying etiology between these disorders. Furthermore, these results validate routine inclusion of JAK2V617F in the diagnostic workup of SVT patients.


Blood ◽  
2006 ◽  
Vol 108 (9) ◽  
pp. 3223-3224 ◽  
Author(s):  
Marjorie Boissinot ◽  
Eric Lippert ◽  
Francois Girodon ◽  
Irene Dobo ◽  
Marc Fouassier ◽  
...  

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 2372-2372
Author(s):  
Benjamin A. Derman ◽  
Hau C. Kwaan

Abstract Background There is a paucity of data on the incidence of risk factors for splanchnic vein thrombosis in current published literature. The present study is an attempt to determine the risk factors, diagnostic methods employed, treatment modalities, and outcomes in patients with splanchnic vein thrombosis in a single institution over a two-year period. Methods Retrospective chart review of patients, 18-90 years old, who were diagnosed with splanchnic vein thrombosis (SVT) at a single institution from January 1, 2010 to November 10, 2012. They were grouped as those with Budd-Chiari syndrome (BCS) and those with portal vein thrombosis (PVT), including those combined with splenic vein thrombosis (SPVT) and those with mesenteric vein thrombosis (MVT). Results Among the 246 patients studied, 21 had BCS and 225 had PVT. Associated risk factors in the order of frequency were liver disease being present in 48% of BCS, 69% of PVT, 45% of PVT+SPVT, and 52% of PVT+MVT. Next was regional cancer, being present in 24%in BCS and 47% of PVT. Third commonest was pancreatitis being present in 14% of BCS, 9% of PVT, 18% of PVT+SPVT, and 6% of PVT+MVT. Hereditary thrombophilias were found in 10% of the BCS group and 4% of PVT; however, it constituted 18% of the PVT+SPVT group, and 12% of the PVT+MVT group. 10% of patients in both the BCS and PVT groups had a liver transplant during their lifetime. The most common presenting symptom was abdominal pain occurring in 57% patients with BCS and 50% patients with PVT. The majority had laboratory findings of liver dysfunction at presentation with 86% in BCS group and 78% in PVT group. JAK2 V617F mutation, when tested, was present in 14% of those with BCS, 20% of the PVT group, 29% of those with PVT+SPVT and 22% of those with PVT+MVT. Diagnosis of SVT was most commonly made by computerized tomography (CT) with contrast (57% for BCS, 56% for PVT). Approximately 60% of BCS patients and 30% of PVT patients received either short-term or long-term anticoagulation; 20% of both groups received transjugular intrahepatic portal system (TIPS) catheterization. Recurrence of symptoms requiring a second hospitalization occurred in 24% of those with BCS and 15% of patients with PVT (36% of the PVT+SPVT and 27% of the PVT+MVT). In those patients with a greater comorbidity profile, including hypertension, diabetes, and malignancy, PVT is more likely than BCS to occur. Regional presence of inflammation or cancer, specifically underlying liver disease, hepatocellular carcinoma, pancreatic cancer, pancreatitis, as well as regional surgical procedures appear to play major role in splanchnic vein thrombosis, while hereditary thrombophilias and the JAK2 V617F mutation make up an important but small component of splanchnic vein thrombosis. Contrast-enhanced CT was the most commonly successful radiologic technique for diagnosis, though magnetic resonance imaging (MRI) provides a more accurate alternative. Anticoagulation was largely limited to patients with the most severe cases of SVT, and symptomatic recurrence was also more likely in these populations. Conclusions The present findings of risk factors associated with SVT are at variance with those in the current published literature, with higher incidence of regional cancer and lower incidence of JAK2 V617F mutation. There are, however, limitations to this study, including the fact that this is a retrospective analysis with data from a single institution. Verification of these findings has to been made in a prospective multi-institutional study involving a larger number of patients and a longer period of observation. Disclosures: No relevant conflicts of interest to declare.


2009 ◽  
Vol 101 (04) ◽  
pp. 787-789 ◽  
Author(s):  
Sandrine Boutruche ◽  
Christine Biron-Andréani ◽  
Jean-François Schved ◽  
Sylvie Tondeur

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