Essential thrombocythaemia

Question 1

What is essential thrombocythaemia?

Answer 1

Essential thrombocythaemia is the uncontrolled production of abnormal platelets, causing thrombosis or, at high levels, bleeding due to acquired von Willebrand disease

Question 2

What re some clinical features of essential thrombocythaemia?

Answer 2

• Features common to MPN
• Bleeding
• Peripheral thrombosis

Question 3

What are the aims of investigations in essential thrombocythaemia?

Answer 3

To make a diagnosis and rule out reactive thrombosis caused by blood loss, inflammation, malignancy or iron deficiency

Question 4

What genetic testing is required in essential thrombocythaemia?

Answer 4

• JAK2 mutation 60%
• CALR (Calreticulin) 25%
• MPL 5%
• BCR-ABL1 to rule out CML
  10-20% of cases will be triple negative

Question 5

How is essential thrombocythaemia managed?

Answer 5

ET is managed using anti-platelet therapy such as aspirin to prevent thrombosis, and cytoreductive therapy to control proliferation

Question 6

What are some examples of cytoreductive therapeutic agents?

Answer 6

• Hydroxycarbamide
• Anagrelide
• Interferon alpha