Myeloproliferative

Question 1

what is myelodysplastic syndrome?

Answer 1

heterogenous group of clonal haemotopoietic stem cell disorders which are characterised by

• ineffective haematopoiesis
• peripheral cytopaenia
• risk of progression into AML

Question 2

What are some risk factors of myelodysplastic syndrome?

Answer 2

• older age
• previous chemotherapy
• previous radiotherapy

Question 3

how does myelodysplastic syndrome present?

Answer 3

• anaemia - fatigue, weakness, pallor
• neutropenia - recurrent infections
• thrombocytopenia - easy bruising or bleeding

Question 4

how is myelodysplastic syndrome diagnosed?

Answer 4

• peripheral blood counts: pancytopenia
• bone marrow biopsy: dysplastic changes, blasts
• cytogenetic analysis: chromosomal abnormalities

Question 5

How is myelodysplastic syndrome managed?

Answer 5

*depends on age, overall health, severity of sx

• W&W
• supportive: blood transfusions, growth factors, platelet transfusions, EPO, GCSF
• disease modifying therapy
• immunosuppression
• allogenic stem cell transplant

Question 6

what causes polycythaemia vera?

Answer 6

primary: JAK2 mutation

secondary: tissue hypoxia, COPD, smoking, altitude, OSA, excessive EPO

relative: dehydration, stress, Gaisbock syndrome

Question 7

how do you differentiate between primary and secondary polycythaemia vera?

Answer 7

• red cell mass studies used
• true polycythaemia - total red cell mass in males >35ml/kg and in women >32ml/kg
• JAK2 Mutation, low EPO, hypercellularity, hyperviscocity sx in primary
• no mutation, high EPO, normal cellularity in BM, underlying hypoxic sx in secondary

Question 8

What are some signs of polycythaemia vera?

Answer 8

• ruddy complexion
• conjunctival plethora
• splenomegaly
• hypertension

Question 9

How is polycythaemia vera managed?

Answer 9

• venesection
• aspirin to reduce thrombus formation
• chemo: hydroxycarbamide to help control
• myelosuppression

Question 10

What are some causes of thrombocytosis?

Answer 10

🍽️ platelets >400

• primary - JAK2 mutation
• reactive - stress in infection, surgery, iron deficiency anaemia
• malignancy
• hyposplenism

Question 11

What is essential thrombocythaemia?

Answer 11

*myelofibrosis and acute leukaemia risk

• megakaryocyte proliferation resulting in an overproduction of plt
• plt > 600
• burning sensation in hands

Question 12

How is essential thrombocythaemia managed?

Answer 12

• low dose aspirin to reduce thrombosis risk
• interferon-alpha in young
• chemo with hydroxycarbamide to control
• anagrelide plt lowering agent

Question 13

what is myelofibrosis?

Answer 13

proliferation of single cells like leads to BM fibrosis, BM replaced with scar tissue

*in response to cytokines released from cells
*pancytopenia picture

Question 14

what causes myelofibrosis?

Answer 14

• primary
• polycythaemia vera
• essential thrombocythaemia

Question 15

what are some features of myelofibrosis?

Answer 15

• extra medullary haematopoiesis: hepatosplenomegaly, SCC
• blood film: teardrop red cells, anisocytosis, blasts

Question 16

what is the management for myelofibrosis?

Answer 16

• no active treatment for mild
• supportive - anaemia, splenomegaly and portal hypertension
• chemo - hydroxycarbamide to control
• targeted - JAK2 inhibitors like ruxolitinib
• allogenic stem cell transplantation

Question 17

what is the presentation of myeloproliferative syndromes?

Answer 17

• non-specific: fatigue, weight loss, night sweats, fever
• anaemia SOB, tired, dizzy
• splenomegaly: abdo pain
• portal HTN: ascites, varices
• low plt: bleeding, bruising
• raised hb: itching, headaches
• neutropenia: infection
• gout

Question 18

what is the main complication of myeloproliferative syndromes?

Answer 18

Thrombosis - polycythaemia and thrombocythaemia

• MI, stroke, VTE (DVT or PE)

Question 19

How is myeloproliferative syndromes investigated?

Answer 19

• BM biopsy
• BM aspiration - dry with myelofibrosis due to scar tissue
• JAK2, MPL, CALR mutations for management