Polycythaemia (rubra) vera

• increase Hb, PCV, Red cell count

• PCV more reliabel indicator compared to Hb

• clonal stem cell disorder

• over 95% have JAK-2 mutation

• onset insidious

• aged >60yrs

  • tiredness

  • depression

  • vertigo

  • tinnitus

  • visual disturbance

• severe itching after hot bath = common

• gout due to increased cell turnover may be feature

• patient usuallly plethoric

• spleen palpable in 70%

  • distinguish primary from secondary

Major

Hb >18.5g/dL M ; 16.5g/dL F

Presence of Jak2

Minor

bone marrow biopsy shouwing hypercellulairty

serum EPO below reference range

Endogenous erythroid colony formation in vitro

management

• aim keep PCV \<0.45 and platelet below 400

• Venesection

  • \<0.45L/L

• chemotherapy

  • hydroxyruea

• low dose aspirin

• (Anagrelide)

• needs to be controlled prior to surgery

prognosis

• develops into myelofibrosis in 30% of cases

• AML 5%

• natural history of the disease

secondary polycyhaemia

• Altitude

• lung disease

• cardiac disease (right - left shunt)

• Heavy smoking

• increase affinity of familial polycaythaemia

• stress

• dehydration

• burns

• inappropriate increase in erythropoeitin

  • Renal disease-renal cell carcinoma

  • adrenal tymours

  • massive uterine fibroma

Essential thrombocyhaemia

• closely related to PV

• noraml Hb and WCC and platelet usually >600

• presents symptomatically

  • thromboemoblic

• or during routine review/bloods

• management is with hydroxyurea to control platelet to \<400

Myelofibrosis

• clonal proliferation of stem cells and myeloid metaplasia in liver, spleen and other organs

• 25% have preceeding hsitory of PV

• 50% have Jak2

• presents insidiously with lethargy, weakness and weight loss

• splenomegaly

• severe pain related to inspiration

  • perisplenitis 2ary to splenic infarction

• bone pain and attacks of gout

• Investigations:

  • FBC

    • anaemia

    • poikilocytes and tear-drop red cells

    • platelets initially elevated but may drop

    • WBC may be over 100x10^9

    • later leucopenia may develop

  • bone marrow aspiration

    • often unsuccessful

      • = clue

      • fibrosis seen

  • philadelphia chromosone absent

    • distinguish between CML

  • LAP score = normal / high

  • high serum urate

  • low serum folate

    • increase haemopoeitic activity

• main differential = meylofibrosis rom CML

• Treatment = gneral supportive measures:

  • transfusion

  • folic acid

  • analgesics

  • allopurinol

  • hydroxyrea

  • splenomegaly

• prognosis

  • may survive for 109yrs or more

  • 10-20% transofrm to AML

Myelodysplasia

• group of acquired conditions that are due to defect in stem cells

• increase bone marrow failure

• natural history variable

• 30% transform to AML

• occurs mainly in elderly

• presents with symptoms of anaemia, infection or bleeding dur to pancytopenia

• serial blood counts -> progressive marrow failure

• marrow shows increased cellulairty despite pancytopenia

• ring sideroblasts present

• management

  • supportive care

  • gentle chemo

  • intensive chemo

  • lenalidomide

  • bone marrow transplantation