What is the pathophysiology of essential primary thrombocythemia?

(Essential Thrombocytosis; Primary Thrombocythemia) Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an increased platelet count, megakaryocytic hyperplasia, and a hemorrhagic or microvascular thrombotic tendency.

What is primary and secondary thrombocytosis?

There are two types of thrombocytosis: primary and secondary. Primary thrombocytosis is a disease in which abnormal cells in the bone marrow cause an increase in platelets. It is also called essential thrombocythemia (or ET).

Is primary thrombocythemia the same as essential thrombocythemia?

Essential thrombocytosis (ET), or primary thrombocythemia, is a rare disorder in which the body produces too many platelets for unknown reasons. This can cause abnormal blood clotting or bleeding.

What causes essential hemorrhagic thrombocythemia?

Essential thrombocythemia may be caused by acquiring somatic mutations (not inherited mutations ) in any of several genes , including the JAK2 gene (most frequently) and CALR gene. In rare cases, the disease is caused by mutations in the MPL, THPO, or TET2 gene.

How to find out if you have primary thrombocythemia?

How is primary thrombocythemia diagnosed? 1 Complete blood count (CBC). A CBC measures the number of platelets in your blood. 2 Blood smear. A blood smear examines the condition of your platelets. 3 Genetic testing. This test will help determine whether you have an inherited condition that causes a high platelet count.

What are the side effects of primary thrombocytosis?

Primary thrombocytosis, or essential thrombocythemia, can cause serious bleeding or clotting complications. These can usually be avoided by maintaining good control of the platelet count with medications. After many years of having the disease, however, bone marrow fibrosis (scarring) can develop.

What’s the difference between essential and secondary thrombocythemia?

Secondary or reactive thrombocytosis. Secondary thrombocythemia (this is a less favored term). In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn’t known. When this process occurs without other blood cell disorders, it’s called essential thrombocythemia.

What happens to the platelets in thrombocythemia?

In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. They may form blood clots or, surprisingly, cause bleeding when they don’t work well. Bleeding also can occur because of a condition that develops called von Willebrand disease.