Last Updated on October 13, 2022
Introduction
• A myeloproliferative disorder caused by malignant proliferation of a clone derived from one pluripotent stem cell leading to an excess proliferation of red blood cell, leucocytes and platelets → hyperviscosity of blood & thrombosis
• JAK2 mutation is present in >95% cases
• Age group: commoner >60s, peak in 60s
Presentation
(i) Asymptomatic
• Detected from FBC
(ii) Symptomatic
Clinical Features
Symptom
Vague symptoms
• e.g. headache, tinnitus, visual disturbance
Characteristic symptoms
• Body itching, typically after a hot bath
• Erythromelalgia — burning sensation in fingers and toes
Physical examination
• Plethoric appearance
• Splenomegaly
Other features
• Patient may have features of arterial thrombosis or venous thrombosis
• Hypertension
• Low ESR
Investigations
Blood test
• FBC
• Serum ferritin
• ABG
• Liver function test
• Renal profile
• JAK2
Imaging
• Ultrasound abdomen
Others
• Bone marrow aspirate and trephine (BMAT)
Complications
• Thrombosis
• Haemorrhage
Management
Treatment options
• Tab Aspirin 75 mg OD
• Venesection
• Chemotherapy
Target
• Keep haematocrit less than 45%
Prognosis
• Variable; many remain well for years
• Thrombotic events may cause significant morbidity & mortality
• 30% will develop myelofibrosis
• 5% will develop acute leukaemia