Ph-NEGATIVE CHRONIC MYELOPROLIFERATIVE NEOPLASM (PRIMARY MYELOFIBROSIS) – AS ONE OF THE REASONS OF THE BUDD-CHIARI SYNDROME. CLINICAL CASE OF A YOUNG PATIENT.

Abstract

Aim. To show the peculiarity of clinical manifestation, diagnostic and therapeutic approach of misdiagnosed chronic myeloproliferative neoplasms (CMPN), which has debuted by hepatic thrombosis. Patients and methods. We present the results of clinical description, observation data and treatment results in a patient with Budd-Chiari syndrome (BCS) as manifestation of latent primary (idiopathic) myelofibrosis. Standard clinical and laboratory analyses, investigation of molecular markers of CMPN, cytomorphological examination of bone marrow, marker of thrombophilia, ultrasound Doppler investigation of portal vessels have been used. Results. We observed a patient with primary myelofibrosis (PM), which started with BCS. The hematological disorder was not recognized properly due to the latent course of the disease and thrombosis at background. The appropriate treatment of PM was not prescribed. The diagnosis of PM was verified, and moreover we have found hereditary thrombophilic factors. Only after verification of the diagnosis anticoagulant and cytostatic therapy was started. The result was positive: we observed a resolution of clinical symptoms, normalization of blood counts and partial restore of blood flow in hepatic veins. But discontinuation of the antithrombotic therapy provoked rethrombosis of the same localization. The resumption of anticoagulant therapy led to positive clinical effect again. Conclusion. The described clinical case shows that the BCS development can be the consequence of the existing myeloproliferative neoplasm. Hereditary thrombophilia factors and very important in maintenance of the thrombotic state in patients with CMPN. Therefore special attention should be paid not only to cytoreductive therapy for normalization of blood counts, but also to perpetual intake of anticoagulants particularly in case of thrombotic complication of such localization.

Keywords

• chronic myeloproliferative neoplasms
• Budd-Chiari syndrome
• portal hypertension
• thrombophilia.