Myeloproliferative Disorders

Question 1

What are myeloproliferative disorders

Answer 1

Chronic myeloid leukemia: too many myeloid cells
Poycythaemia rubra vera: too many red blood cells
Essential thrombocytopenia: too many platelets
Myelofibrosis: excessive fibrosis in the marrow secondary to probable ET/PRV (scarring of bone marrow)

Question 2

What is the genetic abnormality of polycythaemia rubra vera, essential thrombocytopenia and primary myelofibrosis

Answer 2

JAK 2 mutation

Question 3

What is JAK2

Answer 3

A signalling protein

Question 4

What is polycythaemia vera

Answer 4

Too many red blood cells

Question 5

What is the clinical presentaion of polycythaemia vera

Answer 5

Red face
Prutitus after hot bath
Palpable spleen
Headache
Diziness
Blurred vision

Question 6

Whta are the signs of polycthaemia vera

Answer 6

Plethora
Conjunctival suffusion
Trendeny to thrombosis
Tendencing to bleeding

Question 7

What are the causes of polycythaemia vera

Answer 7

JAK2 positive 
Hypoxia: low oxygen
Smoking
Lung disease
Cyanotic heart disease
Altitude
Rare tumours
Rare hb variatns
Too much erythropoietin

Question 8

What is the treatment of polycthaemia vera

Answer 8

Reduce the risk of thrombosis and haemorrhage

Minimise the risk of transformation to acute leukemia and myelofibrosis

Question 9

What does the therapy for polycythaemia vera involve

Answer 9

Venesection
Anti platelet treatment with aspirin
Hydroxycarbamide for thrombocytosis

Question 10

What is essential thrombocytopenia

Answer 10

Too many platelets

Question 11

What is the clinical feature of essential thrombocytopenia

Answer 11

Vascular events of: thrombosis, microvascular occlusive symptoms 
Erythomelagia
Acroparathaesia
Digital ischaemia
Too many bleeding

Question 12

What is the dignosis of essential thrombocytopenia by

Answer 12

Look at platelet count
Look for JAK2 mutation
Rule out no other myeloid malignancy e.g CML
No reacitive cuase for thrombocytopenia and normal iron stores
Bone marrow aspiration of trephine biopsy

Question 13

What is the treatment of essential thrombocytopenia

Answer 13

Hydroxyurea
Anagrelise (platelet inhibitor)
Low dose peglated IFN alpha 2a

Question 14

What is myelofibrosis

Answer 14

Scarring of the bone marrow

Question 15

What are the features of myelofibrosis

Answer 15

Splenomegaly
Spleen pain
Fevers, sweats, backpain
Infections
Hepatomegaly
Marrow failure
Hypermetabolic symptoms 
Hyperuricaenia

Question 16

How is myelofibrosis diagnosed

Answer 16

Bone marrow biopsy

Pathogenic mutations

Question 17

What are the features of myelofibrosis on a blood film

Answer 17

Tear drop shaped RBC
Large platelet
Myelocyyte
Nucleated red cell

Question 18

What is the treatment of myelofibrosis

Answer 18

JAK inhibitor of ruxolitinib

Question 19

What is chronic myeloid leukemia

Answer 19

Type of myeloproliferative disease; accumulation of myeloid progenitor cells, high WBC and large spleen

Question 20

What is the cause of CML

Answer 20

Translocation of chromosome 9 and 22 resulting in BCR-ABL gene

Question 21

What is the treatment of CML

Answer 21

Imatinib (tyrosine kinase inhibitor)

Question 22

What is myelodysplasia

Answer 22

Bone marrow cancer

Question 23

What does myelodysplasia present as

Answer 23

anaemia
Neutropenia
Thrombocytopenia

Question 24

What are the causes of myelodysplasia

Answer 24

secondary to chemotheraoy

Genetic abnormality

Question 25

What does myelodysplasia give rise to

Answer 25

Reduced mature rbc, platelets, white cell that are less functinoine
Blasts accumulating due to mature failure

Question 26

What is the treatment of myelodysplasia

Answer 26

Blood transfusion