Myeloproliferative neoplasms (MPN) are considered a risk factor for Budd-Chiari syndrome (BCS
reaction (AS-PCR). The association of these mutations is rare, with only a few cases reported in the literature. The patient was treated with oral anticoagulation and antiplatelets with good results and proper follow-up. In conclusion, due to the possible coexistence of multiple prothrombotic factors in patients with Budd-Chiari syndrome, the approach to these patients must be focussed on searching for multiple factors and should include the JAK-2 V617F mutationKeywords: Budd-Chiari syndrome, Factor V G1691A mutation, JAK-2 V617F mutation The patient was found to be a heterozygous carrier of Factor V and homozygous wild type G20210A prothrombin mutations. The JAK-2 V617F mutation was detected by allele-specific polymerase chain reaction [AS-PCR] (9). All family members were also tested for possible mutations and her father, one sister, one daughter and one son were also carriers of Factor V Leiden, and the rest of the family members were negative for G20210A prothrombin and JAK-2
RESUMEN
Neoplasias mieloproliferativas (MPN) se consideran un factor de riesgo para el síndrome de BuddChiari (BCS). La clasificación actual de MPN por la Organización Mundial de la Salud se basa en la presencia de la mutación somática JAK-2 V617F, que está presente en 40 a 60% de los pacientes con BCS. La mutación del factor V Leiden se encuentra en alrededor del 53% de los pacientes con BCS