Essential thrombocythemia is a chronic disease common in people over age 50 and slightly more common in women. Young people can develop it as well. It is characterised by the overproduction of platelets by megakaryocytes in the bone marrow. Essential thrombocythemia is an uncommon disorder where the body produces too many blood platelets. This condition may cause to feel fatigued, lightheaded and to experience headaches and vision changes. It also increases the risk of blood clots.
The greatest health risk in patients with ET is an increased risk of developing blood clots. Blood clots can be in the deep vessels of the legs or lungs; ET patients are also more likely to experience strokes and heart attacks. ET patients can develop clots elsewhere, including within the abdomen, an otherwise rare site for clots to form. The risk of clotting increases with age, and disease-associated risks may be quite different for children than for adults, with children generally being at low risk for clots and other problems related to ET.
Germline mutations of the CHEK2 gene have been reported in some myeloid and lymphoid malignancies, but their impact on development of essential thrombocythemia has not been studied. In 16 out of 106 (15.1%) consecutive patients, newly diagnosed with essential thrombocythemia, we found one of four analyzed CHEK2 mutations: I157T, 1100delC, IVS2+1G>A or del5395. They were associated with the increased risk of disease (OR=3.8; P=0.002). The median age at ET diagnosis among CHEK2+/JAK2V617F+ patients was seven years lower than that among CHEK2−/JAK2V617F+ (52 vs. 59 years; P=0.04), whereas there was no difference in the medians of hematologic parameters between these groups.