Chronic myeloproliferative disorders Flashcards
Is maturation affected in myeloproliferative disorders?
There is increased production of cells but in contrast to leukaemia, maturation is relatively preserved
- so there are lots of normal cells
Which myeloproliferative disorder is BCR-ABL1 positive?
Chronic myeloid leukaemia
Which myeloproliferative disorders are BCR-ABL1 negative?
Idiopathic myelofibrosis
Polycythaemia rubra vera
Essential thrombocytopenia
(All except chronic myeloid leukaemia)
Which chronic myeloproliferative disorder involves an over production of red cells?
Polycythaemia rubra vera
Which chronic myeloproliferative disorder involves an over production of platelets?
Essential thrombocytopenia
Which chronic myeloproliferative disorder involves an over production of granulocytes?
Chronic myeloid leukaemia
What are some of the common signs and symptoms of myeloproliferative disorders?
Fatigue, weight loss and night sweats
Splenomegaly - abdominal discomfort
Thrombosis
Gout
Fibrosis
Blood films in myelofibrosis show tear-dropped shaped RBCs and leucoerythroblastic film. What are some other causes of this kind of film?
Sepsis
Marrow infiltration
What investigations should be done for myelofibrosis?
Blood film and FBC
Dry aspirate
Trephine biopsy
JAK2 mutation status
What are the treatment options for myelofibrosis?
Supportive; blood transfusion/ platelets/ antibiotics
Allogenic stem cell transplantation
Splenectomy
JAK2 inhibitors
What is polycythaemia rubra vera?
A chronic myeloproliferative disorder
High red blood cells
What are some secondary causes of polycythaemia?
COPD
Smoking
EPO secreting tumours (e.g renal or hepatocellular)
What are some causes of pseudopolycythaemia?
Dehydration
Diuretic therapy
Obesity
What are some of the clinical features of polycythaemia rubra vera?
Headache
Fatigue
Itch (esp after hot baths/ showers)
Facial plethora
Burning in the fingers and the toes
Splenomegaly
Thrombosis
What investigations should be done for polycythaemia?
FBC and blood film
JAK2 mutation status
Investigate for other causes than rubra vera
What are the treatment options for polycythaemia rubra vera?
Venesection
Aspirin
Hydroxycarbamide (cytotoxic oral chemotherapy)
Venesection is a treatment option for polycythaemia rubra vera. What is the aim for haematocrit levels?
<0.45
What is essential thrombocytopenia?
Uncontrolled production of abnormal platelets which predisposes to thrombosis and abnormal bleeding
What investigations should be done for essential thrombocytopenia?
Exclude CML
JAK2 mutation status
CALR (calreticulin) in those without JAK2 mutation
What are the treatment options for essential thrombocytopenia?
Aspirin
Hydroxycarbamide (cytoreductive therapy)
What is the relevance of the philadelphia chromosome in CML?
The philadelphia chromosome results in a new gene; BCR-ABL1
This gene product is a tyrosine kinase which causes abnormal phosphorylation which causes the haematological changes seen in CML
What are some of the clinical features of chronic myeloid leukaemia?
Asymptomatic
Splenomegaly
Hypermetabolic syndromes
Gout
Priapism
How is chronic myeloid leukaemia managed?
Tyrosine kinase inhibitors (imatinib)
Stem cell/ bone marrow transplantation
What is the most common cause of high cell counts; myeloproliferative disorders or reactive causes?
Reactive causes
What are some examples of reactive causes which can cause a high granulocyte count?
Infection
Physiological post-surgery
Steroids
What are some examples of reactive causes which can cause a high platelet count?
Infection
Malignancy
Iron deficiency
Blood loss
What are some examples of reactive causes which can cause a high red cell count?
Pseudopolycythaemia
secondary polycythaemia
A high Hb level in a patient without any relevant history is suggestive of which condition?
Secondary polycythaemia
