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Year 3 - Haematology > Myeloprolifertive Disorders > Flashcards

Myeloprolifertive Disorders Flashcards

1
Q

What is the most common gene mutation in myeloproliferative disease?

A

JAK-2

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2
Q

What is polycythaemia?

A

Increased in red cell count and PCV

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3
Q

What is polycythaemia rubra vera?

A

Over-production of red cells
Increase in Hb and Hct
May have excessive production of other cells

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4
Q

What is JAK2?

A

Tyrosine kinase

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5
Q

How does polycythaemia rubra vera present?

A 
Tiredness
Itching
Vertigo
Headache
Visual problems
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6
Q

Which group tend to present with polycythaemia rubra vera?

A

> 60

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7
Q

What may be common when a patient with polycythaemia rubra vera is hot?

A

Itching

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8
Q

What are the major complications of PRV?

A

Haemorrhage

Thrombosis

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9
Q

What may be found on examination of polycythaemia rubra vera?

A

Cyanosis
Splenomegaly
Hepatomegaly

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10
Q

What is found on FBC in PRV?

A

High Hb

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11
Q

What does bone marrow aspirate show in PRV?

A

Hypercellular

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12
Q

How is PRV managed?

A

Venesection to get Hct <0.45
Low dose aspirin
Cytotoxic oral chemotherapy

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13
Q

What is essential thrombocythaemia?

A

Overproduction of abnormal platelets

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14
Q

How does essential thrombocythaemia present?

A

Usually with thrombosis

Erythromelalgia

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15
Q

What is erythromelalagia?

A

severe burning pain, erythema and warmth at the extremities

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16
Q

How is essential thrombocythaemia diagnosed?

A

Persistently high platelet count with no identifiable cause

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17
Q

What may cause secondary polycythaemia?

A

Chronic hypoxia
Smoking
EPO-secreting tumour

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18
Q

What may cause pseudopolycythaemia?

A

Dehydration
Diuretic therapy
obesity

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19
Q

What is a psuedopolycythaemia?

A

When the plasma volume is reduction so the ratio seems high but the number of platelets is normal

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20
Q

What does the JAK2 mutation cause in PRV?

A

loss of auto-inhibitions and activation of erythropoiesis in the absence of a ligand

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21
Q

What cytotoxic chemo drug is given to treat PRV?

A

Hydroxycarbamide

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22
Q

Why does essential thrombocythaemia present with bleeding sometimes?

A

Causes acquired vWF disease

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23
Q

In which scenarios may a reactive thrombosis occur?

A

Blood loss
Inflammation
Malignancy
Iron def

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24
Q

Which mutations may be present in essential thrombocythaemia?

A

JAK2
CALR
MPL

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25
Q

What diagnosis should be excluded on suspicion of essential thrombocythaemia?

A

CML

26
Q

How is ET managed?

A

Anti-platelets
Anagrelide
Hydroxycarbamide
Interferon alpha

27
Q

What is the action of anagrelide?

A

Inhibits megakaryocyte differention

28
Q

What is myelofibrosis?

A

Clonal proliferation of stem cells and abnormal myeloid cells

29
Q

What causes the fibrosis in myelofibrosis?

A

Hyperplasia of abnormal megakaryocytes which release fibroblast stimulating factors

30
Q

Give an example of a fibroblast stimulation factor

A

Platelet-derived growth factor

31
Q

“Tear drop” red cells are seen in which conditions?

A

Idiopathic myelofibrosis

32
Q

How does myelofibrosis present?

A

Marrow failure - anaemia, bleeding, infection
Splenomegaly
Extramedullary haemopoeisis

33
Q

Which mutations are seen in myelofibrosis?

A

JAK2

CALR

34
Q

How is idiopathic myelofibrosis treated?

A

Transfusions
Abx
Allogenic stem cell transplant
JAK2 inhibitors

35
Q

Give an example of a JAK2 inhibitor

A

Ruxolitinib

36
Q

What is the most common cause of raised cell counts?

A

Reactive

37
Q

What characterises CML?

A

Uncontrolled growth of myeloid cells

38
Q

Why is there less growth of non-myeloid cells in CML?

A

Overgrowth of myeloid cells push out the other cells and stop them growing

39
Q

Which gene is abnormal in CML?

A

BCR-ABL1

40
Q

Which chromosomal mutation is present in CML?

A

t(9;22)

Philadelphia chromosome

41
Q

Where is the abnormal ABL gene in CML?

A

Chromosome 9

42
Q

What is the effect of BCR-ABL mutations on DNA repair?

A

Inhibitory

43
Q

Why may upper abdo pain be present in CML?

A

Hepatosplenomegaly

44
Q

Why may CML cause poor appetite?

A

Spleen compresses stomach

45
Q

What does FBC show in CML?

A

Leucocytosis
Increased white cells
Normocytic/normochromic anaemia

46
Q

Why is gout more common in CML?

A

Increased cell turnover causes excess of purines

47
Q

Why does CML cause dyspnoea and fatigue?

A

Anaemia

48
Q

What causes the neurological defects in CML?

A

Hyperviscosity of the blood

49
Q

What are the three main stages of CML?

A

Chronic
Accelerated
Blast crisis

50
Q

Describe the chronic phase of CML

A

Asymptomatic

Mild fatigue or fullness

51
Q

Describe the accelerated phase of CML

A

Sign that disease is progressing and blast crisis is imminent

52
Q

What are the criteria for accelerated CML phase

A

Platelet counts <100,000 or >1,000,000
Increasing splenomegaly
10-19% myeloblasts
>20% basophils

53
Q

Describe the blast crisis phase of CML

A

Final phase which behaves like an acute leukaemia

54
Q

What are the criteria for blast crisis CML?

A

> 20% myeloblasts or lymphoblasts in blood or marrow
Large clusters of blasts in bone marrow
Chloroma

55
Q

What is a chloroma?

A

Extramedullary solid collection of leukaemia cells

56
Q

What does biochemistry show in CML?

A

Raised lactate dehydrogenase

Raised urate

57
Q

What does blood film show in CML?

A

Granulocytes at all stages of development

58
Q

How is CML managed?

A

Tyrosine kinase inhibitors

Bone marrow transplant

59
Q

Give an example of a tyrosine kinase inhibitor?

A

Imatinib

60
Q

How is response to imatinib treatment monitored?

A

PCR of BCAR-ABL

61
Q

When would a bone marrow transplant be offered in CML?

A

No response to medical treatment
Young, healthy patient
Offers cure

Year 3 - Haematology (17 decks)

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