JAK2V617F mutation prevalence on Chilean adults suffering from primary mesenteric and portal venous thromboses

International Journal of Laboratory Hematology
Jaime González-MonteroGuillermo Conte Lanza

Abstract

Mesenteric and portal venous thromboses are rare diseases with high mortality rates and are strongly associated with hepatic cirrhosis, and abdominal inflammatory or tumoral processes, but in some cases can be the first sign of myeloproliferative neoplasm (MPN) or hereditary thrombophilia. JAK2V617F mutation detection is an important diagnostic tool for MPN patients. The aim of this study was to describe the JAK2V617F mutation prevalence on Chilean patients suffering from a primary splanchnic venous thrombosis (SVT), in order to assess how it relates to primary MVT and PVT in our specific population. A retrospective observational study was conducted in patients referred to the University of Chile Clinical Hospital with mesenteric and/or portal venous thrombosis diagnosis over a 7-year period. Patients with primary thrombosis underwent hereditary thrombophilia study and JAK2V617F mutation screening. A total of 123 patients had splanchnic venous thrombosis (mesenteric and/or portal) as their main discharge diagnosis. Sixty patients (49%) had primary mesenteric or portal venous thrombosis (no attributable secondary cause). Hereditary thrombophilia and MPN were diagnosed in 21.6% and 43.3% of SVT patients, respectively. Twenty SVT ...Continue Reading

References

Feb 3, 2000·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·L AmitranoA Balzano
Mar 8, 2000·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·M H DenningerD Valla
Mar 23, 2005·Lancet·E Joanna BaxterUNKNOWN Cancer Genome Project
Nov 30, 2006·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Massimo PrimignaniPier Mannuccio Mannucci
Mar 20, 2009·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·S Abu-DaffM Al-Shahed
Aug 20, 2009·Digestive Diseases and Sciences·Sandra Guerra XavierNelson Spector
May 4, 2010·Journal of Vascular Surgery·Christopher D Owens
Oct 22, 2010·Thrombosis Research·Shrimati Shetty, Kanjaksha Ghosh
Nov 2, 2011·Journal of Thrombosis and Haemostasis : JTH·J HoekstraH L A Janssen
Oct 3, 2012·Thrombosis Research·Nicoletta RivaWalter Ageno

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