P124 The prevalence of JAK2 V617F mutation in myelodysplastic syndrome

✍ Scribed by M. Radič Antolic; R. Zadro; P. Rončevič; S. Bašič Kinda; B. Labar

• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 46 KB
• Volume: 21
• Category: Article
• ISSN: 0268-960X
• DOI: 10.1016/s0268-960x(07)70202-3

✦ Synopsis

reductase enzyme mutation, 5Gdel1G of gen PAI-1) and hyperhomocysteinaemia up to 24 mcmol/L were also discovered. Patient received interferon-alpha, hydroxyurea, acetylsalicylic acid, sulodexide, vitamin therapy B6, B12 with positive effect. We observed disappearance of ascites, reduction of the sizes of spleen, normalization of blood counts. During next 2 years the patient was supervised by hematologist. However abdominal pain became more intensive again after cancellation of sulodexide by patient's own desire in July 2006. She was hospitalized in bad condition, acute hepatic rethrombosis was suspected. There was ascites, hepatosplenomegaly, fever. Analysis of hemostasis showed significant decrease of natural anticoagulants antithrombin III up to 61% and protein C up to 41%. The patient was administered twentyfour-hour heparin therapy, she also received fresh frozen plasma, acetylsalicylic acid, diuretics, hydroxyurea. A positive clinicohematologic effect was achieved. And that fact gave a possibility to transfer the patient on low molecular weight heparin and later on peroral anticoagulant.

Conclusion:

We conclude that the development of Budd-Chiari syndrome in the described clinical case is the consequence of the existed idiopathic myelofibrosis with hyperthrombocytosis and hereditary thrombophilia (mutations MTHFR, PAI-1). We consider that patients with CMPD and abdominal thromboses must be under continuous medical supervision and receive cytoreductive therapy, antithrombotic prophylaxis with direct anticoagulant and antiaggregants.