Myeloproliferative Disorders Flashcards
What are myeloproliferative disorders?
Disorders of clonal haematopoietic stem cells with increased production of one or more types of haematopoietic cells.
What cancers are BCR-ABL1 negative?
Primary myelofibrosis
Polycythaemia vera
Essential thrombocytopenia
What genetic mutation is linked to CML?
Philadelphia chromosome
How can CML present?
Causes proliferation of granulocytes and their precursors. May also cause thrombocytopenia.
Patient will have intact maturation for 3-5 years, before an acute blast crisis develops.
What is the Philadelphia chromosome?
Translocation between chromosome 9 and 22. Produces BCR-ABL1 gene.
What is the treatment of choice in CML?
Imatinib - a tyrosine kinase inhibitor
How does polycythaemia vera present?
Characterised by high haemoglobin and haematocrit due to increased RBC production.
What causes secondary polycythaemia?
Hypoxia
What causes pseudopolycythaemia?
Dehydration
What are symptoms of polycythaemia vera?
Headache
Fatigue
Itch - this is worsened by warm water
What mutation is linked to polycythaemia vera?
JAK2
How is polycythaemia vera investigated?
Check for presence of JAK2
Rule out causes of secondary polycythaemia and pseudopolycythaemia
How is PV treated?
Reduce thrombotic risk
Give aspirin
Venesect if >0.45 haematocrit
May need chemotherapy
What occurs in essential thrombocytopenia?
Causes overproduction of platelets that are both morphologically and functionally abnormal.
Produces an increased thrombotic tendency.
What is the effect of an extremely high platelet count, as seen in ET?
Increased bleeding tendency
An acquired Von WIllebrand disease.
