No one knows what causes the onset of essential thrombocythemia (ET) or other myeloproliferative neoplasms (MPNs). Like many other MPNs, ET is not a genetically inherited disorder, but there may be a familial predisposition to the disease in some patients.
However, researchers have discovered mutations that alter the activity of proteins that control signaling pathways (important regulators of cell growth and development) in many patients with ET. Signaling pathways are important regulators of cell growth and development.
As mentioned before cause of ET is not fully understood. About half of
patients with ET have a mutation of the JAK2 (Janus kinase 2)
gene in their blood cells. Whether or not a patient has the
mutation does not appear to significantly affect the nature
or course of the disease. Research is under way to determine
the precise role of the JAK2 mutation in the biology of the
disease and to identify other mutations in ET patients.
The incidence (newly diagnosed cases) of ET for all races
and ethnicities is approximately 2.2 per 100,000 population
each year. ET occasionally occurs in older children, but is
mostly diagnosed in adult men and women. The prevalence
(estimated number of people alive on a certain date in a
population with a diagnosis of the disease) is approximately
24 cases per 100,000 population, which has been shown in
several small studies.