Neoplasias mieloproliferativas y trombosis venosa esplácnica: estrategias diagnósticas y terapéuticas actuales

Myeloproliferative neoplasms (MPNs) are the most common etiologies of primary splanchnic vein thrombosis, present in almost forty percent of patients with Budd-Chiari syndrome or portal vein thrombosis. Diagnosis of MPNs can be difficult in these patients because key characteristics, such as elevated blood cell counts and splenomegaly, are confounded by portal hypertension or bleeding complications. In recent years, diagnostic tools have improved to provide more accurate diagnosis and classification of MPNs. Although bone marrow biopsy findings remain a major diagnostic criterion, molecular markers are playing an increasing role not only in diagnosis but also in better estimating prognosis. Therefore, though screening for JAK2V617F mutation should be the starting point of the diagnostic workup performed in all patients with splanchnic vein thrombosis, a multidisciplinary approach is needed to accurately diagnose the subtype of myeloproliferative neoplasm, recommend the useful additional tests (bone marrow biopsy, search for an additional mutation using targeted next-generation sequencing), and suggest the best treatment strategy. Indeed, providing a specific expert care pathway for patients with splanchnic vein thrombosis and underlying myeloproliferative neoplasm is crucial to determine the optimal management to reduce the risk of both hematological and hepatic complications.

Resumen tomado de PubMed (NCBI) para el registro citado, en el idioma original. La versión de referencia es la de la publicación original.

El resumen se deja sin traducir para conservar la redacción original de los autores.

Las neoplasias mieloproliferativas son la causa más frecuente de trombosis venosa esplácnica primaria y aparecen en casi el 40 % de los pacientes con síndrome de Budd-Chiari o trombosis portal. Los autores recomiendan buscar la mutación JAK2V617F en todo paciente con trombosis esplácnica; la biopsia de médula ósea sigue siendo un criterio mayor y los marcadores moleculares ganan peso en diagnóstico y pronóstico. El abordaje multidisciplinario y una vía asistencial especializada son cruciales para reducir complicaciones hematológicas y hepáticas.

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