Essential Thrombocythaemia Flashcards
Part of Myeoproliferative Neoplasms
What is the hallmark of essential thrombocythemia (ET)?
Uncontrolled production of abnormal platelets
At what age is essential thrombocythemia most commonly diagnosed?
The median age of diagnosis is around 65, but it can affect younger patients
What are the main pathophysiological mechanisms of essential thrombocythemia?
Platelet function is abnormal, leading to thrombosis and, at high platelet levels, bleeding due to acquired von Willebrand disease
How can bleeding occur in essential thrombocythemia?
High platelet counts can cause abnormal platelet function, leading to bleeding rather than thrombosis due to acquired von Willebrand disease
What are common clinical symptoms of essential thrombocythemia?
(1) Patients may be asymptomatic
(2) or experience symptoms like gout, fatigue, weight loss, sweats, thrombosis, splenomegaly, and unpredictable bleeding
What type of thrombosis is associated with essential thrombocythemia?
Both arterial and venous thrombosis, including TIA, MI, abdominal vessel thrombosis, claudication, and erythromelalgia
What mutations are commonly found in essential thrombocythemia?
1 - AK2 mutations (50-60%)
2 - CALR mutations (25%)
3 - MLP mutations (5%)
4 - ‘triple negative’ (10-20%)
What is the primary treatment for essential thrombocythemia?
Antiplatelet agents (eg, aspirin)
Cytoreductive therapy (eg, hydroxycarbamide, anagrelide, interferon-alpha)
What platelet count is required as part of a diagnosis of essential thrombocythaemia?
Greater than 600x10^9
A 45-year-old female is diagnosed with essential thrombocythaemia following hospital admission with a pulmonary embolism. She has a past medical history of asthma and is deemed unsuitable to take regular aspirin for this reason.
Which would be the most appropriate treatment for this patient? and why?
Hydroxyurea
