Week 19 - Polycythemia, Vit B12/Folate deficiency, thalessaemia Flashcards
what is Polycythaemia vera
a raised RBC count, haemoglobin and packed cell volume/haematocrit
what warrants investigation into Polycythaemia
If packed cell volume/haematocrit persistently raised (male >0.52, female >0.48) this warrants investigation
what is the mutation in Polycythaemia and what is the percentage
90% have JAK2 mutation
what is the presentation of Polycythaemia
headaches, dizziness, lethargy, sweating and pruritus
what is there increased risk of in Polycythaemia
thrombosis - especially strokes, and bleeding - hyperviscosity and platelet dysfunction
what may increased cell turnover in Polycythaemia lead to
gout
what are the clinical signs seen in Polycythaemia
plethora,rosacea, palpable splenomegaly
what are the investigations carried out for Polycythaemia
Investigations: elevated WCC, elevated platelets, iron deficiency, EPO estimation normal or low
what is seen in the bone marrow in polycythemia
hypercellularity
what is the management of Polycythaemia Vera
Management: aspirin (75mg/day), venesection (haematocrit to <0.45)
what is given in advanced cases of polycythaemia vera
Advanced disease: hydroxycarbamide to suppress erythropoiesis
what is the median survival in polycythemia vera
Median survival >10 years, 10% transform to myelofibrosis, 5% to AML
polycythaemia vera is the proliferation of what cells
eryhtroid cells
what is found in the blood with polycythemia vera
high haemoglobin
what JAK2 inhibitors are used in treatment
The mutation to remember is JAK2. Treatment might involve JAK2 inhibitors, such as ruxolitinib
what does Myelofibrosis
result from
primary Myelofibrosis, polycythaemia vera or essential thrombocythaemia
what is Myelofibrosis
where the proliferation of a single cell line leads to bone marrow fibrosis, where bone marrow is replaced by scar tissue.
bone marrow is replaced by scar tissue in response to what in Myelofibrosis
in response to cytokines released from the proliferating cells
what is one particular cytokine concerned with Myelofibrosis
fibroblast growth factor
what does fibrosis in Myelofibrosis affect
the production of blood cells and can lead to low haemoglobin (anaemia), low white blood cells (leukopenia) and low platelets (thrombocytopenia)
what happens when the bone marrow is replaced with scar tissue
the production of blood cells haematopoiesis starts to happen in other areas known as extramedullary haemotopoiesis
what does production of blood cells in the liver and spleen cause
hepatomegaly, splenomegaly, and portal hypertension
what happens when extramedullary haematopoeisis happens around the spine
it can cause spinal cord compression
what will a blood film in myelofibrosis show
Teardrop-shaped red blood cells
Anisocytosis (varying sizes of red blood cells)
Blasts (immature red and white cells)