MPL-Positive Essential Thrombocytosis Presenting as Budd-Chiari Syndrome in a Middle-Aged Woman with an Initially Normal Platelet Count

Budd-Chiari syndrome (BCS) results from an occlusion of the hepatic venous flow which in turn leads to portal hypertension causing ascites and other signs of liver dysfunction. Here, we present the case of a 43-year-old woman with recurrent ascites who was found to have BCS secondary to an inferior vena cava thrombosis extending into the hepatic veins. Although she had a normal platelet count on admission, additional laboratory investigations revealed an MPL mutation. She was discharged on anticoagulation with apixaban and later found to have thrombocytosis on repeat blood work, confirming the diagnosis of essential thrombocytosis, following which she was started on myelosuppressive therapy with hydroxyurea.

A Case of Budd-Chiari Syndrome Associated with Erythrocytosis and Homozygous MTHFR C677T Mutation

An erythrocytosis describes an increased erythrocyte, subclassified into relative due to hemoconcentration or absolute by an increase in erythrocyte mass, defined as an increase in hemoglobin concentration and/or hematocrit in the peripheral blood above the sex-specific normal range. Budd-Chiari Syndrome (BCS) is related to an obstruction of the hepatic venous flow leading to occlusion of hepatic veins and their tributaries. Genetic and environmental factors can interact for risk determination of venous thromboembolism. The risk associated with SNP 677C>T and 1298A>C of the methylenetetrahydrofolate reductase (MTHFR), 1691G>A of the Factor V Leiden (FVL) and 20210G>A of the prothrombin (FII) genes were investigated in many studies involving thrombosis. This case report describes the clinical, hematological and biochemistry data about a 48-year-old woman diagnosed with PV and a BCS associated, also carrying 677C>T SNP in homozygosity. The patient started therapy with phlebotomy, hydroxyurea and oral anticoagulant. Currently, she presents a better clinical and laboratory condition with normalized values of hematological and platelet indices. This case report aims to contribute with evidence of related comorbidities and makes it possible to report that genetic factors are involved since the patient's mother had already been diagnosed with absolute erythrocytosis in 2016 at 78 years old. For this main result, we understand that it is clear that a family genetic study can reveal clinical modifying factors in these patients, as there are different clinical severities in the family. Furthermore, we believe in the need for a greater number of randomized clinical trials to add better evidence to complement an ideal therapeutic approach in these patients.

Case Report: Budd Chiari Syndrome

Budd-syndrome Chiari's is a rare condition is causes by obstruction to hepatic venous outflow. The female patient 25-year old who was admitted to Acharya Vinoba Bahave Rural Hospital on date 19/06/2019. 4 months ago, she noticed that her abdomen had become prominent. Her appetite became poor and she had vomiting bouts whenever she took food. A detailed clinical evaluation of the The syndrome of Budd-Chiari is based on a comprehensive history of of the patient, angiography is often used to assist in the diagnosis. The treatment also uses (MRI) and ultrasound technique. If the condition is detected early, treatment of Budd-Chiari syndrome is more effective. Large doses of corticosteroid, prednisone can also be recommended as heparin like anticoagulants can be efficient in the treatment of Budd-Chiari syndrome individuals. However, the condition typically has an acute onset and can become chronic later in life. The present case with right anticoagulant therapy, early diagnosis and successful treatment is reported.