Essential Thrombocythemia

Essential thrombocythemia (ET) was regarded as a disease of the elderly with a median age of presentation of 60 years. However, increasingly more young patients, particularly women, are being found to have ET. Classically, it is a clonal disorder originating in a multipotent stem cell. However, definite clonal hemopoiesis has been shown in only half of young female ET patients.1 "Nonclonal" ET patients are either at an early stage of evolution of classical ET or other mechanisms are involved. A few families with thrombocytosis have been described. Some of these show high thrombopoietin (TPO) production due to one of several different mutations in the TPO gene. This indicates that other mechanisms causing excessive megakaryopoiesis occur and still others have yet to be discovered.

Thrombocytoses can be divided into primary, in which megakaryopoiesis is abnormal, and secondary, in which megakaryopoiesis is normal. Primary causes are ET, poly-cythemia vera (PV), chronic myeloid leukemia (CML), chronic idiopathic myelofibrosis (CIMF), and myelodysplasia (MDS). Secondary causes include the commonly encountered acquired type; the causes of which are listed in Table 10-1, and the rare familial congenital type with high TPO production.

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