Management of essential thrombocythemia in a resource-limited country: A Nigerian case study

Abstract

Essential thrombocythemia (ET) is one of the classical clonal myeloproliferative neoplasms (MPNs) that constitute a clinical entity distinct from the other MPNs such as polycythemia vera and primary myelofibrosis despite the similarities in their molecular basis. The genetic basis of ET has been associated with the detection of the mutation of three mutually exclusive driver mutations, namely, Janus kinase 2 (JAK2), calreticulin, and myeloproliferative leukemia genes, making them important biomarkers in the diagnosis of ET. This condition is clinically characterized by thrombohemorrhagic complications and progression to myelofibrosis and acute myeloid leukemia. The reduction of the thrombotic complication and/or the associated hemorrhage constitutes the primary goal of the therapeutic practice for the management of ET. We report here seven cases of ET referred to the University College Hospital within a 3-year period (2014–2016). This case series describes the management practices and the therapeutic outcomes in the patients (using the resolution of the clinical presentations and decrease in platelet count). The report also highlights some of the challenges encountered in the management of ET in a resource-limited country like Nigeria.